#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_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	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_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ACAN	176	genome.wustl.edu	37	15	89400477	89400477	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:89400477G>T	ENST00000561243.1	+	11	4661	c.4661G>T	c.(4660-4662)gGt>gTt	p.G1554V	ACAN_ENST00000559004.1_Missense_Mutation_p.G1554V|ACAN_ENST00000439576.2_Missense_Mutation_p.G1554V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1554V			P16112	PGCA_HUMAN	aggrecan	1586	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|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)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGGAGAAGGTCTAGAGACC	0.537																																																	0													45.0	47.0	46.0					15																	89400477		1848	4091	5939	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4661G>T	15.37:g.89400477G>T	ENSP00000453342:p.Gly1554Val		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.G1554V	ENST00000561243.1	37	c.4661	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686775	0.14973	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.94931	-3.56;-3.56	4.46	-2.21	0.06973	.	1.533070	0.04605	N	0.399278	D	0.90150	0.6922	L	0.60455	1.87	0.09310	N	0.999996	P;B	0.37824	0.609;0.264	B;B	0.36335	0.222;0.17	T	0.79077	-0.1951	10	0.27785	T	0.31	0.5943	1.1388	0.01761	0.2333:0.1221:0.3942:0.2504	.	1554;1554	E7ENV9;E7EX88	.;.	V	1554;1554;1440	ENSP00000387356:G1554V;ENSP00000341615:G1554V	ENSP00000268134:G1440V	G	+	2	0	ACAN	87201481	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.315000	0.08081	-0.397000	0.07691	0.655000	0.94253	GGT	ACAN	-	NULL	ENSG00000157766		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2		0.00	56	0	G	NM_001135		89400477	+1			no_errors	ENST00000439576	ensembl	human	known	74_37	missense	15.38	55	10	SNP	0.000	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150524368	150524368	+	Intron	DEL	A	A	-	rs199813152		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:150524368delA	ENST00000271643.4	+	3	152				ADAMTSL4_ENST00000483335.1_3'UTR|ADAMTSL4_ENST00000369039.5_Intron|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Intron|ADAMTSL4_ENST00000369038.2_5'Flank|MIR4257_ENST00000581735.1_RNA	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4						apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			tctccatctcaaaaaaaaaaa	0.527																																																	0																																										SO:0001627	intron_variant	0			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000271643.4:c.-84-313A>-	1.37:g.150524368delA			B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	RNA	DEL	-	NULL	ENST00000271643.4	37	NULL	CCDS955.1	1																																																																																			ADAMTSL4	-	-	ENSG00000143382		0.527	ADAMTSL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding			0.00	10	0	A	NM_019032		150524368	+1	tier1		no_errors	ENST00000483335	ensembl	human	known	74_37	rna	27.27	8	3	DEL	0.000	-
AHNAK	79026	genome.wustl.edu	37	11	62297376	62297376	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:62297376C>T	ENST00000378024.4	-	5	4787	c.4513G>A	c.(4513-4515)Gac>Aac	p.D1505N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1505					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTGCCAGTCTGGGCCATGA	0.483																																																	0													193.0	204.0	201.0					11																	62297376		2202	4299	6501	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4513G>A	11.37:g.62297376C>T	ENSP00000367263:p.Asp1505Asn		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1505N	ENST00000378024.4	37	c.4513	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	18.30	3.592888	0.66219	.	.	ENSG00000124942	ENST00000378024	T	0.05382	3.45	4.34	4.34	0.51931	.	0.289604	0.33916	N	0.004426	T	0.13157	0.0319	M	0.77712	2.385	0.24732	N	0.993089	P	0.36768	0.569	B	0.40375	0.327	T	0.11108	-1.0601	10	0.23302	T	0.38	.	16.5107	0.84284	0.0:1.0:0.0:0.0	.	1505	Q09666	AHNK_HUMAN	N	1505	ENSP00000367263:D1505N	ENSP00000367263:D1505N	D	-	1	0	AHNAK	62053952	0.993000	0.37304	1.000000	0.80357	0.961000	0.63080	5.626000	0.67777	1.973000	0.57446	0.450000	0.29827	GAC	AHNAK	-	NULL	ENSG00000124942		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0.00	99	0	C	NM_024060		62297376	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	23.64	84	26	SNP	1.000	T
ALG5	29880	genome.wustl.edu	37	13	37563687	37563687	+	Nonsense_Mutation	SNP	A	A	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr13:37563687A>T	ENST00000239891.3	-	5	447	c.381T>A	c.(379-381)taT>taA	p.Y127*	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Nonsense_Mutation_p.Y127*|ALG5_ENST00000443765.1_Nonsense_Mutation_p.Y97*	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	127					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TGTCACTTCCATATTTCTGGC	0.284																																																	0													92.0	87.0	89.0					13																	37563687		2202	4299	6501	SO:0001587	stop_gained	0			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.381T>A	13.37:g.37563687A>T	ENSP00000239891:p.Tyr127*		B4DR37|Q5TBA6	Nonsense_Mutation	SNP	pfam_Glyco_trans_2	p.Y127*	ENST00000239891.3	37	c.381	CCDS9361.1	13	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498600	0.64298	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	.	.	.	5.91	-6.72	0.01755	.	0.053616	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.5098	19.1137	0.93330	0.3126:0.0:0.6874:0.0	.	.	.	.	X	97;127;127	.	ENSP00000239891:Y127X	Y	-	3	2	ALG5	36461687	0.002000	0.14202	0.783000	0.31826	0.845000	0.48019	-1.319000	0.02702	-1.352000	0.02194	-1.080000	0.02220	TAT	ALG5	-	pfam_Glyco_trans_2	ENSG00000120697		0.284	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG5	HGNC	protein_coding	OTTHUMT00000044528.2		0.00	30	0	A	NM_013338		37563687	-1			no_errors	ENST00000239891	ensembl	human	known	74_37	nonsense	7.69	24	2	SNP	0.747	T
AMDHD1	144193	genome.wustl.edu	37	12	96350709	96350709	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:96350709G>A	ENST00000266736.2	+	4	662	c.556G>A	c.(556-558)Gct>Act	p.A186T		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	186					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGGCATCTCGGCTACCTACTG	0.617																																																	0													83.0	93.0	89.0					12																	96350709		2203	4300	6503	SO:0001583	missense	0			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.556G>A	12.37:g.96350709G>A	ENSP00000266736:p.Ala186Thr		A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.A186T	ENST00000266736.2	37	c.556	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447121	0.43429	.	.	ENSG00000139344	ENST00000266736	T	0.47177	0.85	5.57	3.59	0.41128	Metal-dependent hydrolase, composite domain (1);	0.156319	0.64402	D	0.000016	T	0.25644	0.0624	N	0.16743	0.435	0.45139	D	0.998157	B	0.02656	0.0	B	0.12156	0.007	T	0.05903	-1.0857	10	0.11794	T	0.64	-15.2293	6.7983	0.23736	0.0924:0.0:0.5379:0.3697	.	186	Q96NU7	HUTI_HUMAN	T	186	ENSP00000266736:A186T	ENSP00000266736:A186T	A	+	1	0	AMDHD1	94874840	1.000000	0.71417	0.980000	0.43619	0.390000	0.30446	3.667000	0.54547	1.367000	0.46095	-0.424000	0.05967	GCT	AMDHD1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	ENSG00000139344		0.617	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1		0.00	25	0	G	NM_152435		96350709	+1			no_errors	ENST00000266736	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.985	A
ANKRD17	26057	genome.wustl.edu	37	4	73951038	73951038	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:73951038C>T	ENST00000358602.4	-	30	7203	c.7087G>A	c.(7087-7089)Gca>Aca	p.A2363T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2112T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2250T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2363					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTAGCAGCTGCGGGTGCTCCT	0.448																																																	0													156.0	165.0	162.0					4																	73951038		2203	4300	6503	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7087G>A	4.37:g.73951038C>T	ENSP00000351416:p.Ala2363Thr		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.A2363T	ENST00000358602.4	37	c.7087	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	11.04	1.523254	0.27299	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.67171	-0.25;-0.24;-0.2	5.81	-11.5	0.00074	.	0.832693	0.10755	N	0.637806	T	0.46833	0.1413	N	0.22421	0.69	0.09310	N	0.999995	B;B;B;B	0.12630	0.006;0.006;0.003;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.001	T	0.55082	-0.8196	10	0.06236	T	0.91	.	25.2045	0.99993	0.0:0.85:0.0:0.15	.	2362;2112;2363;2250	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	2363;1770;2112;2250;747	ENSP00000351416:A2363T;ENSP00000332265:A2112T;ENSP00000427151:A2250T	ENSP00000332265:A2112T	A	-	1	0	ANKRD17	74169902	0.000000	0.05858	0.011000	0.14972	0.713000	0.41058	-1.377000	0.02558	-2.569000	0.00469	-0.290000	0.09829	GCA	ANKRD17	-	NULL	ENSG00000132466		0.448	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1		0.00	43	0	C	NM_032217		73951038	-1			no_errors	ENST00000358602	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.005	T
ANKRD24	170961	genome.wustl.edu	37	19	4210081	4210081	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:4210081G>T	ENST00000600132.1	+	12	1173	c.897G>T	c.(895-897)caG>caT	p.Q299H	ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q389H|ANKRD24_ENST00000595096.1_3'UTR|RN7SL84P_ENST00000578969.1_RNA|ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q299H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	299										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ATGGAAAGCAGGGGGCCCCCA	0.662																																																	0													18.0	22.0	21.0					19																	4210081		1843	4079	5922	SO:0001583	missense	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.897G>T	19.37:g.4210081G>T	ENSP00000471252:p.Gln299His		O75268|O95781	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q299H	ENST00000600132.1	37	c.897	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368076	0.24771	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.34472	1.36;1.39	4.31	-1.0	0.10196	.	.	.	.	.	T	0.26810	0.0656	L	0.44542	1.39	0.09310	N	1	P;P	0.40032	0.574;0.699	B;B	0.38020	0.095;0.263	T	0.14392	-1.0474	9	0.62326	D	0.03	0.4587	6.3051	0.21135	0.2966:0.1741:0.5293:0.0	.	299;389	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	H	299;389	ENSP00000321731:Q299H;ENSP00000262970:Q389H	ENSP00000262970:Q389H	Q	+	3	2	ANKRD24	4161081	0.024000	0.19004	0.088000	0.20740	0.788000	0.44548	0.811000	0.27198	-0.298000	0.08921	0.462000	0.41574	CAG	ANKRD24	-	NULL	ENSG00000089847		0.662	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	-	0.00	82	0	G	XM_114000		4210081	+1	tier1	-	no_errors	ENST00000318934	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.005	T
ANKRD66	100287718	genome.wustl.edu	37	6	46721477	46721477	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:46721477G>A	ENST00000565422.1	+	4	352	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	ANKRD66_ENST00000536046.1_Missense_Mutation_p.R87Q	NM_001162435.2	NP_001155907.2	B4E2M5	ANR66_HUMAN	ankyrin repeat domain 66	116																	GAGGTGATACGGCTCCTGATA	0.498																																																	0													73.0	60.0	64.0					6																	46721477		692	1591	2283	SO:0001583	missense	0			AK304342	CCDS59024.1	6p12.3	2013-01-11			ENSG00000230062	ENSG00000230062		"""Ankyrin repeat domain containing"""	44669	protein-coding gene	gene with protein product							Standard	NM_001162435		Approved		uc011dwf.2	B4E2M5	OTTHUMG00000014791	ENST00000565422.1:c.347G>A	6.37:g.46721477G>A	ENSP00000454770:p.Arg116Gln			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R116Q	ENST00000565422.1	37	c.347	CCDS59024.1	6																																																																																			ANKRD66	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000230062		0.498	ANKRD66-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD66	HGNC	protein_coding	OTTHUMT00000432045.1	-	0.00	48	0	G	NM_001162435		46721477	+1	tier1	-	no_errors	ENST00000565422	ensembl	human	known	74_37	missense	56.52	20	26	SNP	0.023	A
ANO3	63982	genome.wustl.edu	37	11	26569083	26569083	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:26569083T>A	ENST00000256737.3	+	12	2127	c.1275T>A	c.(1273-1275)aaT>aaA	p.N425K	ANO3_ENST00000531568.1_Missense_Mutation_p.N279K|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.N409K|ANO3_ENST00000525139.1_Missense_Mutation_p.N409K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	425					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTACAATGAATAATAGTCAAG	0.338																																																	0													205.0	189.0	194.0					11																	26569083		2203	4300	6503	SO:0001583	missense	0			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1275T>A	11.37:g.26569083T>A	ENSP00000256737:p.Asn425Lys		B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.N425K	ENST00000256737.3	37	c.1275	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	T	17.21	3.331614	0.60853	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.44	5.59	-2.93	0.05598	.	0.098626	0.64402	D	0.000002	T	0.52581	0.1743	N	0.17800	0.525	0.38087	D	0.936853	B;P	0.36183	0.372;0.542	B;B	0.39771	0.216;0.309	T	0.44907	-0.9297	10	0.28530	T	0.3	.	12.4467	0.55654	0.0:0.3853:0.0:0.6147	.	327;425	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	409;409;425;327;279	ENSP00000440737:N409K;ENSP00000432576:N409K;ENSP00000256737:N425K;ENSP00000432394:N279K	ENSP00000256737:N425K	N	+	3	2	ANO3	26525659	0.841000	0.29509	0.274000	0.24659	0.987000	0.75469	-0.011000	0.12721	-0.448000	0.07128	0.477000	0.44152	AAT	ANO3	-	pfam_Anoctamin	ENSG00000134343		0.338	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	-	0.00	59	0	T	NM_031418		26569083	+1	tier1	-	no_errors	ENST00000256737	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.968	A
APOL2	23780	genome.wustl.edu	37	22	36633075	36633075	+	Intron	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr22:36633075G>A	ENST00000249066.6	-	2	344				APOL2_ENST00000451256.2_Intron|APOL2_ENST00000476579.1_5'UTR|APOL2_ENST00000358502.5_Intron	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2						acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GAGAAGAGGAGCAGGAGGGCA	0.592																																																	0																																										SO:0001627	intron_variant	0			AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.132+2411C>T	22.37:g.36633075G>A			B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	RNA	SNP	-	NULL	ENST00000249066.6	37	NULL	CCDS43014.1	22																																																																																			APOL2	-	-	ENSG00000128335		0.592	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APOL2	HGNC	protein_coding	OTTHUMT00000319279.1	-	0.00	11	0	G	NM_145637		36633075	-1	tier1	-	no_errors	ENST00000473549	ensembl	human	known	74_37	rna	40.00	6	4	SNP	0.006	A
ARHGAP9	64333	genome.wustl.edu	37	12	57869326	57869326	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:57869326C>T	ENST00000356411.2	-	11	1579	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.E541K|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.E552K|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.E462K|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.E278K|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.E462K|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	481	Lipid binding.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GACTCCTCTTCTTCGTCCTCC	0.721																																																	0													10.0	13.0	12.0					12																	57869326		2192	4282	6474	SO:0001583	missense	0			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1441G>A	12.37:g.57869326C>T	ENSP00000348782:p.Glu481Lys		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.E481K	ENST00000356411.2	37	c.1441		12	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871114	0.51695	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139	T;T;T;T;T;T	0.51325	3.11;3.08;1.76;3.06;3.02;0.71	5.24	4.35	0.52113	.	0.680119	0.14679	N	0.304866	T	0.58148	0.2102	L	0.47716	1.5	0.35880	D	0.828879	D;D;D;P;B	0.71674	0.997;0.997;0.998;0.932;0.057	D;D;D;B;B	0.78314	0.98;0.98;0.991;0.293;0.082	T	0.59467	-0.7449	10	0.27785	T	0.31	.	9.9788	0.41800	0.0:0.9061:0.0:0.0939	.	541;481;462;462;278	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	K	462;481;132;462;552;511;278;278	ENSP00000377380:E462K;ENSP00000348782:E481K;ENSP00000394307:E462K;ENSP00000377386:E552K;ENSP00000397950:E278K;ENSP00000449829:E278K	ENSP00000344852:E511K	E	-	1	0	ARHGAP9	56155593	0.753000	0.28349	0.697000	0.30258	0.557000	0.35523	2.277000	0.43417	1.373000	0.46208	0.455000	0.32223	GAA	ARHGAP9	-	NULL	ENSG00000123329		0.721	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding			0.00	38	0	C	NM_032496		57869326	-1			no_errors	ENST00000356411	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.888	T
ARL14EP	120534	genome.wustl.edu	37	11	30352585	30352585	+	Silent	SNP	T	T	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:30352585T>A	ENST00000282032.3	+	2	305	c.90T>A	c.(88-90)acT>acA	p.T30T		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	30						cytoplasm (GO:0005737)											GTTTTAAGACTTTGCAAGAAT	0.348																																																	0													88.0	81.0	84.0					11																	30352585		2202	4299	6501	SO:0001819	synonymous_variant	0			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.90T>A	11.37:g.30352585T>A			Q5HYH9	Silent	SNP	NULL	p.T30	ENST00000282032.3	37	c.90	CCDS7869.1	11																																																																																			ARL14EP	-	NULL	ENSG00000152219		0.348	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14EP	HGNC	protein_coding	OTTHUMT00000388129.1	-	0.00	19	0	T	NM_152316		30352585	+1	tier1	-	no_errors	ENST00000282032	ensembl	human	known	74_37	silent	30.77	9	4	SNP	0.997	A
ATAD5	79915	genome.wustl.edu	37	17	29161960	29161960	+	Missense_Mutation	SNP	G	G	T	rs60663953|rs80170526|rs398102309|rs72427574	byFrequency	TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr17:29161960G>T	ENST00000321990.4	+	2	1239	c.861G>T	c.(859-861)atG>atT	p.M287I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	287					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACTCTACAATGTCAATTTGTG	0.348																																																	0													40.0	40.0	40.0					17																	29161960		2195	4274	6469	SO:0001583	missense	0				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.861G>T	17.37:g.29161960G>T	ENSP00000313171:p.Met287Ile		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.M287I	ENST00000321990.4	37	c.861	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	5.215	0.225221	0.09916	.	.	ENSG00000176208	ENST00000321990	T	0.18810	2.19	5.61	0.154	0.14901	.	1.134440	0.06347	N	0.709245	T	0.15435	0.0372	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33445	-0.9868	10	0.45353	T	0.12	.	6.4897	0.22109	0.3734:0.0:0.5153:0.1114	.	287;287	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	I	287	ENSP00000313171:M287I	ENSP00000313171:M287I	M	+	3	0	ATAD5	26186086	0.003000	0.15002	0.005000	0.12908	0.767000	0.43475	0.774000	0.26675	-0.077000	0.12752	0.655000	0.94253	ATG	ATAD5	-	NULL	ENSG00000176208		0.348	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2		0.00	9	0	G	NM_024857		29161960	+1			no_errors	ENST00000321990	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	T
ATP8B1	5205	genome.wustl.edu	37	18	55334329	55334329	+	Silent	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:55334329A>G	ENST00000283684.4	-	19	2279	c.2280T>C	c.(2278-2280)gaT>gaC	p.D760D	ATP8B1_ENST00000536015.1_Silent_p.D760D|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	760					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTCACTTAATATCCTCCCCAT	0.363																																																	0													113.0	105.0	108.0					18																	55334329		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2280T>C	18.37:g.55334329A>G			Q9BTP8	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D760	ENST00000283684.4	37	c.2280	CCDS11965.1	18																																																																																			ATP8B1	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000081923		0.363	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	-	0.00	19	0	A	NM_005603		55334329	-1	tier1	-	no_errors	ENST00000283684	ensembl	human	known	74_37	silent	24.14	22	7	SNP	0.993	G
B4GALT7	11285	genome.wustl.edu	37	5	177036632	177036632	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:177036632G>A	ENST00000029410.5	+	6	1031	c.920G>A	c.(919-921)tGc>tAc	p.C307Y	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	307					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGCCCCCTGCACTGTCCTC	0.602																																																	0													73.0	68.0	69.0					5																	177036632		2202	4300	6502	SO:0001583	missense	0			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.920G>A	5.37:g.177036632G>A	ENSP00000029410:p.Cys307Tyr		B3KN39|Q9UHN2	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.C307Y	ENST00000029410.5	37	c.920	CCDS4429.1	5	.	.	.	.	.	.	.	.	.	.	.	22.2	4.260125	0.80246	.	.	ENSG00000027847	ENST00000029410;ENST00000541139	T	0.28895	1.59	5.21	5.21	0.72293	.	0.088367	0.85682	D	0.000000	T	0.44350	0.1289	M	0.81802	2.56	0.80722	D	1	D	0.54047	0.964	P	0.46917	0.531	T	0.46400	-0.9194	10	0.38643	T	0.18	-43.0933	16.596	0.84796	0.0:0.0:1.0:0.0	.	307	Q9UBV7	B4GT7_HUMAN	Y	307;193	ENSP00000029410:C307Y	ENSP00000029410:C307Y	C	+	2	0	B4GALT7	176969238	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.838000	0.92115	2.586000	0.87340	0.561000	0.74099	TGC	B4GALT7	-	NULL	ENSG00000027847		0.602	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	HGNC	protein_coding	OTTHUMT00000253421.1	-	0.00	39	0	G	NM_007255		177036632	+1	tier1	-	no_errors	ENST00000029410	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A
C18orf61	497259	genome.wustl.edu	37	18	12212039	12212039	+	RNA	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:12212039A>G	ENST00000586882.1	+	0	125					NR_049896.1																						AAAAAAAAAAAAGTTTTGTAA	0.328																																																	0																																												0																															18.37:g.12212039A>G				RNA	SNP	-	NULL	ENST00000586882.1	37	NULL		18																																																																																			RP11-64C12.3	-	-	ENSG00000267733		0.328	RP11-64C12.3-002	KNOWN	basic	processed_transcript	C18orf61	Clone_based_vega_gene	pseudogene	OTTHUMT00000452742.1		0.00	41	0	A			12212039	+1			no_errors	ENST00000586642	ensembl	human	known	74_37	rna	8.93	51	5	SNP	0.760	G
NOL4L	140688	genome.wustl.edu	37	20	31041555	31041556	+	Frame_Shift_Ins	INS	-	-	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr20:31041555_31041556insG	ENST00000359676.5	-	4	538_539	c.396_397insC	c.(394-399)ccctacfs	p.Y133fs	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		133						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCAGAGCTGTAGGGGGGGGACT	0.634																																																	0										28,4072		1,26,2023						5.0	1.0			20	27,7927		3,21,3953	no	frameshift	C20orf112	NM_080616.3		4,47,5976	A1A1,A1R,RR		0.3395,0.6829,0.4563				55,11999				SO:0001589	frameshift_variant	0																														ENST00000359676.5:c.397dupC	20.37:g.31041563_31041563dupG	ENSP00000352704:p.Tyr133fs		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Frame_Shift_Ins	INS	NULL	p.Y132fs	ENST00000359676.5	37	c.397_396	CCDS13202.1	20																																																																																			C20orf112	-	NULL	ENSG00000197183		0.634	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2		0.00	24	0	-			31041556	-1	tier1		no_errors	ENST00000359676	ensembl	human	known	74_37	frame_shift_ins	20.83	19	5	INS	0.997:0.034	G
C5orf42	65250	genome.wustl.edu	37	5	37196019	37196019	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:37196019A>T	ENST00000508244.1	-	20	3845	c.3752T>A	c.(3751-3753)tTt>tAt	p.F1251Y	C5orf42_ENST00000274258.7_Missense_Mutation_p.F132Y|C5orf42_ENST00000425232.2_Missense_Mutation_p.F1251Y			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1251						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGGTCTAAAAAATGCGATACC	0.388																																																	0													107.0	103.0	104.0					5																	37196019		2203	4300	6503	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3752T>A	5.37:g.37196019A>T	ENSP00000421690:p.Phe1251Tyr		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.F1251Y	ENST00000508244.1	37	c.3752	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359743	0.61403	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.39787	1.52;1.52;1.06;1.1	5.21	4.03	0.46877	.	0.000000	0.46442	D	0.000296	T	0.32526	0.0832	L	0.32530	0.975	0.28985	N	0.88838	P;P	0.46142	0.687;0.873	B;B	0.40477	0.259;0.33	T	0.21518	-1.0243	10	0.66056	D	0.02	.	11.5966	0.50977	0.8663:0.0:0.0:0.1337	.	1251;132	E9PH94;Q9H799	.;CE042_HUMAN	Y	1251;1251;132;299;132	ENSP00000421690:F1251Y;ENSP00000389014:F1251Y;ENSP00000274258:F132Y;ENSP00000424223:F299Y	ENSP00000274258:F132Y	F	-	2	0	C5orf42	37231776	1.000000	0.71417	0.900000	0.35374	0.072000	0.16883	6.141000	0.71744	0.909000	0.36697	0.533000	0.62120	TTT	C5orf42	-	NULL	ENSG00000197603		0.388	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0.00	38	0	A	NM_023073		37196019	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	11.39	70	9	SNP	0.992	T
CACNA1G	8913	genome.wustl.edu	37	17	48673930	48673930	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr17:48673930C>T	ENST00000359106.5	+	15	2987	c.2987C>T	c.(2986-2988)gCc>gTc	p.A996V	CACNA1G_ENST00000515411.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A973V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A996V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A996V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A973V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A973V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A973V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A973V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A973V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A996V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A973V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A996V|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A973V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A996V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A996V	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	996					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)			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)	TAGGGAGATGCCAACAAGTCC	0.607																																																	0													87.0	95.0	92.0					17																	48673930		2113	4210	6323	SO:0001583	missense	0			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.2987C>T	17.37:g.48673930C>T	ENSP00000352011:p.Ala996Val		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	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.A996V	ENST00000359106.5	37	c.2987	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	33	5.209029	0.95069	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97232	-4.23;-4.23;-4.3;-4.19;-4.23;-4.21;-4.18;-4.24;-4.28;-4.22;-4.23;-4.1;-4.12;-4.18;-4.14;-4.16;-4.18;-4.13;-4.11;-4.16;-4.22;-4.12;-4.17;-4.1;-4.17;-4.17	5.11	5.11	0.69529	.	0.381143	0.23813	N	0.044302	D	0.98118	0.9379	M	0.75615	2.305	0.58432	D	0.999999	D;D;D;D;P;D;D;P;D;P;P;D;D;P;D;P;D;D;P;D;D;D;D;P;D;D	0.71674	0.998;0.982;0.966;0.997;0.945;0.998;0.998;0.907;0.998;0.895;0.893;0.989;0.991;0.907;0.998;0.886;0.987;0.994;0.895;0.989;0.997;0.982;0.969;0.948;0.993;0.992	D;P;P;D;P;D;D;P;D;P;B;P;P;P;D;P;D;P;B;P;D;P;P;P;D;D	0.79784	0.978;0.806;0.744;0.989;0.564;0.993;0.986;0.627;0.986;0.573;0.423;0.905;0.806;0.507;0.993;0.715;0.926;0.758;0.392;0.802;0.97;0.855;0.656;0.655;0.978;0.966	D	0.97814	1.0252	10	0.28530	T	0.3	.	17.5445	0.87857	0.0:1.0:0.0:0.0	.	973;996;996;996;996;996;996;996;996;996;996;973;996;996;996;996;996;973;996;973;973;973;973;996;973;996	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	V	973;973;996;973;973;973;996;996;973;996;996;996;996;996;996;973;996;996;996;996;973;996;996;996;996;996	ENSP00000353990:A973V;ENSP00000339302:A973V;ENSP00000392390:A996V;ENSP00000347078:A973V;ENSP00000409759:A973V;ENSP00000425522:A973V;ENSP00000426261:A996V;ENSP00000425451:A996V;ENSP00000422407:A973V;ENSP00000426814:A996V;ENSP00000427238:A996V;ENSP00000423112:A996V;ENSP00000420918:A996V;ENSP00000426172:A996V;ENSP00000423045:A996V;ENSP00000427173:A973V;ENSP00000426098:A996V;ENSP00000425698:A996V;ENSP00000426232:A996V;ENSP00000423317:A996V;ENSP00000350979:A973V;ENSP00000352011:A996V;ENSP00000414388:A996V;ENSP00000423155:A996V;ENSP00000422268:A996V;ENSP00000421518:A996V	ENSP00000339302:A973V	A	+	2	0	CACNA1G	46028929	0.996000	0.38824	1.000000	0.80357	0.979000	0.70002	2.843000	0.48238	2.375000	0.81037	0.561000	0.74099	GCC	CACNA1G	-	NULL	ENSG00000006283		0.607	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1		0.00	83	0	C	NM_018896		48673930	+1			no_errors	ENST00000359106	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
CACNA2D1	781	genome.wustl.edu	37	7	81591785	81591785	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:81591785C>G	ENST00000356253.5	-	35	3098	c.2843G>C	c.(2842-2844)aGt>aCt	p.S948T	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S936T|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S148T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	948					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S936I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAAGGTCAAACTCAAGAGAAA	0.333																																																	1	Substitution - Missense(1)	ovary(1)											44.0	45.0	45.0					7																	81591785		2203	4300	6503	SO:0001583	missense	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2843G>C	7.37:g.81591785C>G	ENSP00000348589:p.Ser948Thr		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S948T	ENST00000356253.5	37	c.2843		7	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874817	0.72180	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.69926	-0.44;-0.44;-0.44	5.42	5.42	0.78866	.	0.043225	0.85682	D	0.000000	T	0.80308	0.4599	M	0.73962	2.25	0.41995	D	0.990865	D;P	0.62365	0.991;0.913	P;P	0.60173	0.87;0.771	T	0.80906	-0.1173	10	0.48119	T	0.1	-24.6262	19.2549	0.93943	0.0:1.0:0.0:0.0	.	148;936	B7Z658;P54289-2	.;.	T	936;955;948;148	ENSP00000349320:S936T;ENSP00000348589:S948T;ENSP00000443124:S148T	ENSP00000284088:S955T	S	-	2	0	CACNA2D1	81429721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.556000	0.86216	0.585000	0.79938	AGT	CACNA2D1	-	NULL	ENSG00000153956		0.333	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0.00	46	0	C			81591785	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	missense	20.69	46	12	SNP	1.000	G
CARKD	55739	genome.wustl.edu	37	13	111268083	111268083	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr13:111268083C>T	ENST00000309957.2	+	1	76	c.62C>T	c.(61-63)tCg>tTg	p.S21L	CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Intron|CARKD_ENST00000397191.4_Intron|CARKD_ENST00000470164.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GCATTGCTCTCGGCCGCACTC	0.721																																																	0													8.0	9.0	9.0					13																	111268083		2093	4136	6229	SO:0001583	missense	0			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.62C>T	13.37:g.111268083C>T	ENSP00000311984:p.Ser21Leu			Missense_Mutation	SNP	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel	p.S21L	ENST00000309957.2	37	c.62	CCDS9513.1	13	.	.	.	.	.	.	.	.	.	.	C	7.634	0.679447	0.14907	.	.	ENSG00000213995	ENST00000309957	T	0.23950	1.88	3.52	1.39	0.22231	.	1.112850	0.06807	N	0.789769	T	0.15565	0.0375	N	0.22421	0.69	0.09310	N	0.999995	B;B	0.17465	0.022;0.006	B;B	0.08055	0.003;0.001	T	0.31779	-0.9931	10	0.49607	T	0.09	-3.1191	1.9531	0.03370	0.1778:0.338:0.3503:0.1339	.	21;21	Q8IW45-2;Q8IW45	.;CARKD_HUMAN	L	21	ENSP00000311984:S21L	ENSP00000311984:S21L	S	+	2	0	CARKD	110066084	0.013000	0.17824	0.007000	0.13788	0.033000	0.12548	1.016000	0.29976	0.146000	0.19002	0.561000	0.74099	TCG	CARKD	-	NULL	ENSG00000213995		0.721	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARKD	HGNC	protein_coding	OTTHUMT00000045764.1	-	0.00	29	0	C	NM_018210		111268083	+1	tier1	-	no_errors	ENST00000309957	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.001	T
CASP5	838	genome.wustl.edu	37	11	104879584	104879584	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:104879584G>T	ENST00000260315.3	-	2	130	c.131C>A	c.(130-132)tCt>tAt	p.S44Y	CASP5_ENST00000393141.2_Missense_Mutation_p.S57Y|CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y|CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	44					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)		GGTCTGGATAGATGTTTGTCC	0.363																																																	0													150.0	135.0	140.0					11																	104879584		2202	4299	6501	SO:0001583	missense	0				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.131C>A	11.37:g.104879584G>T	ENSP00000260315:p.Ser44Tyr		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.S57Y	ENST00000260315.3	37	c.170	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	.	4.140	0.024356	0.08054	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.28454	4.56;1.61;4.59;4.56;2.72	1.15	-0.0252	0.13936	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	P;P	0.39782	0.561;0.688	B;B	0.23150	0.02;0.044	T	0.17992	-1.0351	9	0.87932	D	0	.	2.9172	0.05756	0.6522:0.0:0.3478:0.0	.	44;57	P51878;P51878-5	CASP5_HUMAN;.	Y	57;11;44;57;28	ENSP00000376849:S57Y;ENSP00000376847:S11Y;ENSP00000260315:S44Y;ENSP00000436877:S57Y;ENSP00000415241:S28Y	ENSP00000260315:S44Y	S	-	2	0	CASP5	104384794	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.836000	0.27545	-0.031000	0.13781	-0.312000	0.09012	TCT	CASP5	-	NULL	ENSG00000137757		0.363	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	-	0.00	110	0	G	NM_004347		104879584	-1	tier1	-	no_errors	ENST00000393141	ensembl	human	known	74_37	missense	17.39	76	16	SNP	0.001	T
CC2D2A	57545	genome.wustl.edu	37	4	15562218	15562218	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:15562218T>C	ENST00000503292.1	+	24	3167	c.2987T>C	c.(2986-2988)aTa>aCa	p.I996T	CC2D2A_ENST00000389652.5_Missense_Mutation_p.I947T|CC2D2A_ENST00000413206.1_Missense_Mutation_p.I996T|CC2D2A_ENST00000424120.1_Missense_Mutation_p.I996T	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	996					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCTGATATGATAGTAGAAGAA	0.249																																																	0													35.0	34.0	34.0					4																	15562218		1784	4053	5837	SO:0001583	missense	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2987T>C	4.37:g.15562218T>C	ENSP00000421809:p.Ile996Thr		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_dom,smart_C2_dom	p.I996T	ENST00000503292.1	37	c.2987	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290521	0.59976	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.59	5.59	0.84812	.	0.551590	0.18346	N	0.144005	T	0.41834	0.1176	L	0.39898	1.24	0.80722	D	1	B;B	0.31625	0.332;0.141	B;B	0.27076	0.047;0.076	T	0.39722	-0.9600	10	0.72032	D	0.01	.	15.7742	0.78198	0.0:0.0:0.0:1.0	.	996;947	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	T	996;996;947;947;996;947	ENSP00000403465:I996T;ENSP00000398391:I996T;ENSP00000421809:I996T;ENSP00000374303:I947T	ENSP00000374303:I947T	I	+	2	0	CC2D2A	15171316	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	7.196000	0.77805	2.130000	0.65690	0.533000	0.62120	ATA	CC2D2A	-	NULL	ENSG00000048342		0.249	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	-	0.00	59	0	T	NM_001080522		15562218	+1	tier1	-	no_errors	ENST00000413206	ensembl	human	known	74_37	missense	54.00	23	27	SNP	0.993	C
CCDC18	343099	genome.wustl.edu	37	1	93648967	93648967	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:93648967A>G	ENST00000343253.7	+	2	551	c.49A>G	c.(49-51)Agt>Ggt	p.S17G	CCDC18_ENST00000557479.1_Missense_Mutation_p.S135G|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.S17G|CCDC18_ENST00000338949.4_5'UTR|TMED5_ENST00000370282.3_5'Flank			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	17										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAAGAGGAAAGTTTGCTTGC	0.323																																																	0													106.0	101.0	103.0					1																	93648967		1823	4074	5897	SO:0001583	missense	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.49A>G	1.37:g.93648967A>G	ENSP00000343377:p.Ser17Gly		Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.S135G	ENST00000343253.7	37	c.403		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.37|10.37	1.332212|1.332212	0.24167|0.24167	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000448243|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.248287	.|0.34484	.|N	.|0.003934	T|T	0.19248|0.19248	0.0462|0.0462	L|L	0.28274|0.28274	0.84|0.84	0.80722|0.80722	D|D	1|1	.|B	.|0.33103	.|0.397	.|B	.|0.32090	.|0.14	T|T	0.10200|0.10200	-1.0640|-1.0640	5|9	.|0.23891	.|T	.|0.37	.|.	6.6227|6.6227	0.22812|0.22812	0.6923:0.157:0.0:0.1507|0.6923:0.157:0.0:0.1507	.|.	.|135	.|G3V388	.|.	R|G	63|17;17;135	.|.	.|ENSP00000343377:S17G	K|S	+|+	2|1	0|0	CCDC18|CCDC18	93421555|93421555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.137000|2.137000	0.42130|0.42130	2.126000|2.126000	0.65437|0.65437	0.459000|0.459000	0.35465|0.35465	AAG|AGT	CCDC18	-	NULL	ENSG00000122483		0.323	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1		0.00	25	0	A	NM_206886		93648967	+1			no_errors	ENST00000557479	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	G
CCL20	6364	genome.wustl.edu	37	2	228680154	228680154	+	Intron	DEL	T	T	-	rs34834265		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:228680154delT	ENST00000358813.4	+	2	134				CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000409189.3_Intron			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20						cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TACCTTTCACTTTTTTTTTTT	0.363																																																	0													49.0	57.0	55.0					2																	228680154		2201	4300	6501	SO:0001627	intron_variant	0			D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.77-16T>-	2.37:g.228680154delT			Q53S51|Q99664	RNA	DEL	-	NULL	ENST00000358813.4	37	NULL	CCDS2469.1	2																																																																																			CCL20	-	-	ENSG00000115009		0.363	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL20	HGNC	protein_coding	OTTHUMT00000331641.1		0.00	10	0	T	NM_004591		228680154	+1	tier1		no_errors	ENST00000473642	ensembl	human	known	74_37	rna	35.71	9	5	DEL	0.010	-
CCP110	9738	genome.wustl.edu	37	16	19554028	19554028	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:19554028G>T	ENST00000381396.5	+	7	2560	c.2313G>T	c.(2311-2313)ttG>ttT	p.L771F	CCP110_ENST00000396208.2_Missense_Mutation_p.L771F|CCP110_ENST00000396212.2_Missense_Mutation_p.L771F	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	771					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTAGTGGCTTGACCAAACTCT	0.393																																																	0													88.0	83.0	85.0					16																	19554028		2197	4300	6497	SO:0001583	missense	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2313G>T	16.37:g.19554028G>T	ENSP00000370803:p.Leu771Phe		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	NULL	p.L771F	ENST00000381396.5	37	c.2313	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629630	0.46944	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.15487	2.42;2.42;2.42	5.66	3.72	0.42706	.	0.479031	0.18857	N	0.129223	T	0.14614	0.0353	L	0.50333	1.59	0.24182	N	0.99558	P;P	0.45474	0.859;0.859	B;B	0.40534	0.332;0.246	T	0.13415	-1.0510	10	0.37606	T	0.19	-8.3662	5.8518	0.18697	0.1536:0.0:0.6145:0.2319	.	771;771	O43303;O43303-2	CP110_HUMAN;.	F	771	ENSP00000379515:L771F;ENSP00000370803:L771F;ENSP00000379511:L771F	ENSP00000370803:L771F	L	+	3	2	CCP110	19461529	0.998000	0.40836	0.999000	0.59377	0.975000	0.68041	1.273000	0.33121	0.747000	0.32809	-0.137000	0.14449	TTG	CCP110	-	NULL	ENSG00000103540		0.393	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2		0.00	26	0	G	NM_014711		19554028	+1			no_errors	ENST00000381396	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
CCZ1	51622	genome.wustl.edu	37	7	5942299	5942299	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:5942299A>G	ENST00000325974.6	+	6	512	c.446A>G	c.(445-447)aAt>aGt	p.N149S	CCZ1_ENST00000537980.1_Missense_Mutation_p.N6S	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	149						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TAGCTTTTTAATGGTACATTT	0.318																																																	0													41.0	44.0	43.0					7																	5942299		2195	4288	6483	SO:0001583	missense	0			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.446A>G	7.37:g.5942299A>G	ENSP00000325681:p.Asn149Ser		A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	pfam_DUF1712_fun	p.N149S	ENST00000325974.6	37	c.446	CCDS34597.1	7	.	.	.	.	.	.	.	.	.	.	A	17.46	3.396282	0.62177	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73369	0.3578	M	0.68593	2.085	0.80722	D	1	D	0.55172	0.97	P	0.60286	0.872	T	0.70414	-0.4878	9	0.23302	T	0.38	-29.7858	15.1979	0.73108	1.0:0.0:0.0:0.0	.	149	P86790	CCZ1L_HUMAN	S	149;6	.	ENSP00000325681:N149S	N	+	2	0	CCZ1	5908825	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.423000	0.90264	2.194000	0.70268	0.528000	0.53228	AAT	CCZ1	-	pfam_DUF1712_fun	ENSG00000122674		0.318	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1	HGNC	protein_coding	OTTHUMT00000340391.1	-	0.00	75	0	A	NM_015622		5942299	+1	tier1	-	no_errors	ENST00000325974	ensembl	human	known	74_37	missense	24.78	85	28	SNP	1.000	G
CD163	9332	genome.wustl.edu	37	12	7639546	7639546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:7639546G>T	ENST00000359156.4	-	9	2289	c.2087C>A	c.(2086-2088)tCg>tAg	p.S696*	CD163_ENST00000396620.3_Nonsense_Mutation_p.S729*|CD163_ENST00000432237.2_Nonsense_Mutation_p.S696*|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Nonsense_Mutation_p.S684*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	696					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S696L(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GCCCAAAGACGATGAATTGCA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											105.0	93.0	97.0					12																	7639546		2203	4300	6503	SO:0001587	stop_gained	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2087C>A	12.37:g.7639546G>T	ENSP00000352071:p.Ser696*		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.S696*	ENST00000359156.4	37	c.2087	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.730417	0.97796	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	4.75	3.86	0.44501	.	1.081370	0.07128	N	0.845110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1983	0.37242	0.103:0.0:0.897:0.0	.	.	.	.	X	696;684;729;696	.	ENSP00000352071:S696X	S	-	2	0	CD163	7530813	0.005000	0.15991	0.006000	0.13384	0.438000	0.31896	0.706000	0.25690	1.307000	0.44944	0.650000	0.86243	TCG	CD163	-	NULL	ENSG00000177575		0.438	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2		0.00	38	0	G	NM_004244, NM_203416		7639546	-1			no_errors	ENST00000359156	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.033	T
CDC42BPG	55561	genome.wustl.edu	37	11	64609344	64609344	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:64609344G>A	ENST00000342711.5	-	2	192	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ctctgcagacgcagttctttc	0.602																																																	0													82.0	69.0	74.0					11																	64609344		2199	4297	6496	SO:0001583	missense	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.193C>T	11.37:g.64609344G>A	ENSP00000345133:p.Arg65Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R65C	ENST00000342711.5	37	c.193	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138655	0.77775	.	.	ENSG00000171219	ENST00000342711	T	0.71579	-0.58	4.46	3.53	0.40419	.	0.000000	0.52532	D	0.000067	D	0.84023	0.5381	M	0.85197	2.74	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	D	0.86070	0.1537	10	0.87932	D	0	.	11.9501	0.52950	0.0:0.0:0.813:0.187	.	65	Q6DT37	MRCKG_HUMAN	C	65	ENSP00000345133:R65C	ENSP00000345133:R65C	R	-	1	0	CDC42BPG	64365920	0.492000	0.26027	0.969000	0.41365	0.888000	0.51559	0.967000	0.29344	1.147000	0.42369	0.555000	0.69702	CGT	CDC42BPG	-	NULL	ENSG00000171219		0.602	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	-	0.00	21	0	G	XM_290516		64609344	-1	tier1	-	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	A
CDKL4	344387	genome.wustl.edu	37	2	39417577	39417577	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:39417577C>T	ENST00000395035.3	-	5	520	c.521G>A	c.(520-522)gGa>gAa	p.G174E	CDKL4_ENST00000378803.1_Missense_Mutation_p.G174E			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				CTGAGTATCTCCCACAAGAAG	0.468																																																	0													166.0	164.0	165.0					2																	39417577		2203	4300	6503	SO:0001583	missense	0				CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.521G>A	2.37:g.39417577C>T	ENSP00000378476:p.Gly174Glu		Q2NME9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G174E	ENST00000395035.3	37	c.521		2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149046	0.78001	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.52295	0.67;0.67	5.07	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000043	T	0.62877	0.2464	L	0.53249	1.67	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66069	-0.6015	10	0.87932	D	0	-18.6852	13.0971	0.59200	0.1616:0.8384:0.0:0.0	.	174;174	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	E	174	ENSP00000368080:G174E;ENSP00000378476:G174E	ENSP00000368080:G174E	G	-	2	0	CDKL4	39271081	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.662000	0.68032	1.259000	0.44117	0.609000	0.83330	GGA	CDKL4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000205111		0.468	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	CDKL4	HGNC	protein_coding	OTTHUMT00000331655.1	-	0.00	24	0	C	XM_293029		39417577	-1	tier1	-	no_errors	ENST00000378803	ensembl	human	known	74_37	missense	28.07	41	16	SNP	1.000	T
CERS2	29956	genome.wustl.edu	37	1	150937700	150937700	+	3'UTR	SNP	T	T	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:150937700T>G	ENST00000271688.6	-	0	2453				RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_3'UTR|CERS2_ENST00000561294.1_Intron|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2						ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGATCCCCCTTCTCAATTCCT	0.269																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.*924A>C	1.37:g.150937700T>G			D3DV06|Q5SZE5|Q9HD96|Q9NW79	RNA	SNP	-	NULL	ENST00000271688.6	37	NULL	CCDS973.1	1																																																																																			CERS2	-	-	ENSG00000143418		0.269	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS2	HGNC	protein_coding	OTTHUMT00000084897.2	-	0.00	69	0	T	NM_022075		150937700	-1	tier1	-	no_errors	ENST00000345896	ensembl	human	known	74_37	rna	8.11	68	6	SNP	0.074	G
CGNL1	84952	genome.wustl.edu	37	15	57730212	57730212	+	Silent	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:57730212C>T	ENST00000281282.5	+	2	93	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	5	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCTGTATTTCGGTGAATATC	0.438																																																	0													239.0	252.0	247.0					15																	57730212		2192	4292	6484	SO:0001819	synonymous_variant	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.15C>T	15.37:g.57730212C>T			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.F5	ENST00000281282.5	37	c.15	CCDS10161.1	15																																																																																			CGNL1	-	NULL	ENSG00000128849		0.438	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	-	0.00	55	0	C	NM_032866		57730212	+1	tier1	-	no_errors	ENST00000281282	ensembl	human	known	74_37	silent	15.38	33	6	SNP	0.945	T
CHD2	1106	genome.wustl.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:93540315_93540316insA	ENST00000394196.4	+	29	4792_4793	c.3724_3725insA	c.(3724-3726)gaafs	p.E1242fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.E1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1242					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347																																																	0																																										SO:0001589	frameshift_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3735dupA	15.37:g.93540325_93540325dupA	ENSP00000377747:p.Glu1242fs		C6G482|Q96IP5	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Y1246fs	ENST00000394196.4	37	c.3724_3725	CCDS10374.2	15																																																																																			CHD2	-	NULL	ENSG00000173575		0.347	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3		0.00	30	0	-	NM_001271		93540316	+1	tier1		no_errors	ENST00000557381	ensembl	human	putative	74_37	frame_shift_ins	12.90	27	4	INS	1.000:1.000	A
CHRM2	1129	genome.wustl.edu	37	7	136700551	136700551	+	Silent	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:136700551C>T	ENST00000445907.2	+	3	1467	c.939C>T	c.(937-939)ggC>ggT	p.G313G	CHRM2_ENST00000397608.3_Silent_p.G313G|CHRM2_ENST00000401861.1_Silent_p.G313G|CHRM2_ENST00000402486.3_Silent_p.G313G|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Silent_p.G313G|CHRM2_ENST00000320658.5_Silent_p.G313G|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	313					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTTCCCTGGGCCATTCCAAAG	0.463																																																	0													93.0	94.0	94.0					7																	136700551		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.939C>T	7.37:g.136700551C>T			Q4VBK6|Q9P1X9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.G313	ENST00000445907.2	37	c.939	CCDS5843.1	7																																																																																			CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181072		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0.00	26	0	C			136700551	+1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	silent	50.00	11	11	SNP	1.000	T
CIRH1A	84916	genome.wustl.edu	37	16	69194279	69194279	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:69194279C>G	ENST00000314423.7	+	13	1642	c.1465C>G	c.(1465-1467)Ctt>Gtt	p.L489V	CIRH1A_ENST00000352319.4_Missense_Mutation_p.L374V|CIRH1A_ENST00000563094.1_Missense_Mutation_p.L489V			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	489					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GGCCATGTGTCTTTTGGCAGT	0.498																																					Melanoma(69;1156 1278 4951 8715 52012)												0													283.0	252.0	262.0					16																	69194279		2198	4300	6498	SO:0001583	missense	0			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1465C>G	16.37:g.69194279C>G	ENSP00000327179:p.Leu489Val		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L489V	ENST00000314423.7	37	c.1465	CCDS10872.1	16	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554612	0.45487	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.28895	1.59;2.32	5.89	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.121472	0.52532	N	0.000065	T	0.29817	0.0745	M	0.64997	1.995	0.40650	D	0.982021	B;B	0.14438	0.001;0.01	B;B	0.20384	0.029;0.025	T	0.10268	-1.0637	10	0.17369	T	0.5	.	10.9422	0.47281	0.0:0.8494:0.0:0.1506	.	489;489	Q969X6;Q969X6-3	CIR1A_HUMAN;.	V	489;374	ENSP00000327179:L489V;ENSP00000339164:L374V	ENSP00000327179:L489V	L	+	1	0	CIRH1A	67751780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.984000	0.49353	1.514000	0.48869	0.650000	0.86243	CTT	CIRH1A	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat	ENSG00000141076		0.498	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIRH1A	HGNC	protein_coding	OTTHUMT00000268950.2	-	0.00	32	0	C	NM_032830		69194279	+1	tier1	-	no_errors	ENST00000314423	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	G
CKAP5	9793	genome.wustl.edu	37	11	46810291	46810291	+	Silent	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:46810291T>C	ENST00000529230.1	-	16	1954	c.1908A>G	c.(1906-1908)ccA>ccG	p.P636P	CKAP5_ENST00000354558.3_Silent_p.P636P|CKAP5_ENST00000415402.1_Silent_p.P636P|CKAP5_ENST00000312055.5_Silent_p.P636P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	636					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATGCCTGGCATGGCATTTCAG	0.358																																					Ovarian(4;85 273 2202 4844 13323)												0													104.0	101.0	102.0					11																	46810291		2201	4299	6500	SO:0001819	synonymous_variant	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1908A>G	11.37:g.46810291T>C			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.P636	ENST00000529230.1	37	c.1908	CCDS31477.1	11																																																																																			CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.358	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	-	0.00	25	0	T	NM_014756		46810291	-1	tier1	-	no_errors	ENST00000415402	ensembl	human	known	74_37	silent	40.74	16	11	SNP	0.990	C
CLDN18	51208	genome.wustl.edu	37	3	137729265	137729265	+	Nonsense_Mutation	SNP	T	T	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:137729265T>A	ENST00000183605.5	+	1	424	c.198T>A	c.(196-198)taT>taA	p.Y66*	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	66					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCAGGCCCTATTTCACCATCC	0.612																																																	0													66.0	60.0	62.0					3																	137729265		2203	4300	6503	SO:0001587	stop_gained	0			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.198T>A	3.37:g.137729265T>A	ENSP00000183605:p.Tyr66*		A5PL21|Q96PH4	Nonsense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.Y66*	ENST00000183605.5	37	c.198	CCDS3095.1	3	.	.	.	.	.	.	.	.	.	.	T	32	5.178318	0.94846	.	.	ENSG00000066405	ENST00000183605;ENST00000536138	.	.	.	5.55	-1.24	0.09435	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1371	0.65295	0.0:0.5708:0.0:0.4292	.	.	.	.	X	66	.	ENSP00000183605:Y66X	Y	+	3	2	CLDN18	139211955	1.000000	0.71417	0.943000	0.38184	0.912000	0.54170	1.340000	0.33896	-0.159000	0.11021	-1.411000	0.01122	TAT	CLDN18	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000066405		0.612	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357199.2	-	0.00	52	0	T	NM_001002026		137729265	+1	tier1	-	no_errors	ENST00000183605	ensembl	human	known	74_37	nonsense	41.94	36	26	SNP	0.896	A
CNGA3	1261	genome.wustl.edu	37	2	98994176	98994176	+	Missense_Mutation	SNP	C	C	T	rs367575427		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:98994176C>T	ENST00000272602.2	+	2	167	c.128C>T	c.(127-129)tCg>tTg	p.S43L	CNGA3_ENST00000409937.1_5'UTR|CNGA3_ENST00000436404.2_Missense_Mutation_p.S43L|CNGA3_ENST00000393504.1_Missense_Mutation_p.S43L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	43					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAGGAGACATCGTCAGTGCTG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19107	0.0		0.0	False		,,,				2504	0.0																0													37.0	33.0	34.0					2																	98994176		2203	4300	6503	SO:0001583	missense	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.128C>T	2.37:g.98994176C>T	ENSP00000272602:p.Ser43Leu		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S43L	ENST00000272602.2	37	c.128	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182100	0.38511	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602	T;T;T	0.52526	0.66;0.66;0.66	4.79	3.91	0.45181	.	.	.	.	.	T	0.41581	0.1165	M	0.72894	2.215	0.09310	N	1	B;P	0.45428	0.004;0.858	B;B	0.31614	0.001;0.133	T	0.43458	-0.9390	9	0.59425	D	0.04	.	10.5751	0.45223	0.0:0.9084:0.0:0.0916	.	43;43	Q4VAP7;Q16281	.;CNGA3_HUMAN	L	43	ENSP00000377140:S43L;ENSP00000410070:S43L;ENSP00000272602:S43L	ENSP00000272602:S43L	S	+	2	0	CNGA3	98360608	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.408000	0.21065	1.376000	0.46267	-0.136000	0.14681	TCG	CNGA3	-	NULL	ENSG00000144191		0.582	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	-	0.00	25	0	C	NM_001298		98994176	+1	tier1	-	no_errors	ENST00000272602	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.014	T
CNTN5	53942	genome.wustl.edu	37	11	100170076	100170076	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:100170076T>G	ENST00000524871.1	+	20	2858	c.2568T>G	c.(2566-2568)aaT>aaG	p.N856K	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.N782K|CNTN5_ENST00000279463.3_Missense_Mutation_p.N856K|CNTN5_ENST00000527185.1_Missense_Mutation_p.N856K|CNTN5_ENST00000528682.1_Missense_Mutation_p.N856K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	856	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTATAACAATAAAGGAGATG	0.343																																																	0													96.0	93.0	94.0					11																	100170076		1837	4081	5918	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2568T>G	11.37:g.100170076T>G	ENSP00000435637:p.Asn856Lys		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N856K	ENST00000524871.1	37	c.2568	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	T	16.10	3.025942	0.54683	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.62	0.618	0.17624	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60183	0.2249	L	0.50333	1.59	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.54622	-0.8266	10	0.40728	T	0.16	.	8.2658	0.31813	0.0:0.474:0.0:0.526	.	782;856	O94779-2;O94779	.;CNTN5_HUMAN	K	856;856;856;782;856	ENSP00000433575:N856K;ENSP00000436185:N856K;ENSP00000435637:N856K;ENSP00000393229:N782K;ENSP00000279463:N856K	ENSP00000279463:N856K	N	+	3	2	CNTN5	99675286	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	0.587000	0.23909	0.109000	0.17891	-0.256000	0.11100	AAT	CNTN5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149972		0.343	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0.00	25	0	T	NM_014361		100170076	+1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.995	G
COPG1	22820	genome.wustl.edu	37	3	128984416	128984416	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:128984416A>G	ENST00000314797.6	+	14	1353	c.1249A>G	c.(1249-1251)Atc>Gtc	p.I417V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	417					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TAAGCGCGCTATCGTGGACTG	0.517																																																	0													178.0	158.0	165.0					3																	128984416		2203	4300	6503	SO:0001583	missense	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1249A>G	3.37:g.128984416A>G	ENSP00000325002:p.Ile417Val		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.I417V	ENST00000314797.6	37	c.1249	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	A	18.49	3.636164	0.67130	.	.	ENSG00000181789	ENST00000314797	T	0.11930	2.73	6.14	6.14	0.99180	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.067105	0.64402	D	0.000010	T	0.28499	0.0705	L	0.50333	1.59	0.50171	D	0.999858	P	0.40032	0.699	P	0.58130	0.833	T	0.02121	-1.1210	10	0.18710	T	0.47	-9.3066	14.758	0.69583	1.0:0.0:0.0:0.0	.	417	Q9Y678	COPG_HUMAN	V	417	ENSP00000325002:I417V	ENSP00000325002:I417V	I	+	1	0	COPG	130467106	1.000000	0.71417	0.993000	0.49108	0.625000	0.37756	9.085000	0.94083	2.367000	0.80283	0.529000	0.55759	ATC	COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu	ENSG00000181789		0.517	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	-	0.00	25	0	A	NM_016128		128984416	+1	tier1	-	no_errors	ENST00000314797	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	G
COQ5	84274	genome.wustl.edu	37	12	120960101	120960101	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:120960101T>C	ENST00000288532.6	-	2	308	c.268A>G	c.(268-270)Atc>Gtc	p.I90V	COQ5_ENST00000445328.2_Missense_Mutation_p.I90V	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	90					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACGATGGATACCAAGACTC	0.458																																																	0													238.0	192.0	208.0					12																	120960101		2203	4300	6503	SO:0001583	missense	0			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.268A>G	12.37:g.120960101T>C	ENSP00000288532:p.Ile90Val		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.I90V	ENST00000288532.6	37	c.268	CCDS31912.1	12	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889140	0.52014	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000552443;ENST00000551769;ENST00000547736	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.91	5.91	0.95273	UbiE/COQ5 methyltransferase, conserved site (1);	0.048285	0.85682	D	0.000000	T	0.59390	0.2190	L	0.49126	1.545	0.24081	N	0.995943	B;B	0.31519	0.226;0.327	B;B	0.40329	0.326;0.252	T	0.55617	-0.8113	10	0.33940	T	0.23	.	8.4189	0.32687	0.0:0.1459:0.0:0.8541	.	90;90	B4DP72;Q5HYK3	.;COQ5_HUMAN	V	90;90;90;9;9;64	ENSP00000288532:I90V;ENSP00000401798:I90V;ENSP00000449863:I9V;ENSP00000450001:I9V;ENSP00000449933:I64V	ENSP00000288532:I90V	I	-	1	0	COQ5	119444484	0.968000	0.33430	0.982000	0.44146	0.995000	0.86356	1.721000	0.38032	2.263000	0.75096	0.379000	0.24179	ATC	COQ5	-	pfam_UbiE/COQ5_MeTrFase	ENSG00000110871		0.458	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2	-	0.00	28	0	T	NM_032314		120960101	-1	tier1	-	no_errors	ENST00000288532	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.993	C
CPT1C	126129	genome.wustl.edu	37	19	50207991	50207991	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:50207991G>A	ENST00000392518.4	+	8	1090	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	CPT1C_ENST00000323446.5_Missense_Mutation_p.V240M|CPT1C_ENST00000354199.5_Missense_Mutation_p.V240M|CPT1C_ENST00000598293.1_Missense_Mutation_p.V240M|CPT1C_ENST00000405931.2_Missense_Mutation_p.V240M	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	240					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGAGGAATTTGTGTACCTGCG	0.602																																																	0													50.0	46.0	47.0					19																	50207991		2203	4300	6503	SO:0001583	missense	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.718G>A	19.37:g.50207991G>A	ENSP00000376303:p.Val240Met		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.V240M	ENST00000392518.4	37	c.718	CCDS12779.1	19	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511635	0.64522	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	4.46	3.41	0.39046	.	0.164115	0.28647	N	0.014613	D	0.89942	0.6861	L	0.39397	1.21	0.39467	D	0.967662	D;D;D;D	0.76494	0.996;0.996;0.999;0.993	D;D;D;D	0.76071	0.959;0.939;0.97;0.987	D	0.89794	0.3970	10	0.87932	D	0	-22.6937	7.7946	0.29140	0.1932:0.0:0.8067:0.0	.	78;240;240;240	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	M	240;240;240;240;78	ENSP00000376303:V240M;ENSP00000346138:V240M;ENSP00000384465:V240M;ENSP00000319343:V240M	ENSP00000295404:V78M	V	+	1	0	CPT1C	54899803	0.874000	0.30092	1.000000	0.80357	0.991000	0.79684	1.441000	0.35035	2.202000	0.70862	0.561000	0.74099	GTG	CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.602	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	-	0.00	39	0	G	NM_152359		50207991	+1	tier1	-	no_errors	ENST00000323446	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.997	A
CRKL	1399	genome.wustl.edu	37	22	21272499	21272499	+	Silent	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr22:21272499C>T	ENST00000354336.3	+	1	786	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	93	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GATCCACTACCTGGACACCAC	0.587																																					Pancreas(85;3 1441 23889 42519 42763)												0													44.0	43.0	43.0					22																	21272499		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.277C>T	22.37:g.21272499C>T			A8KA44|D3DX35	Silent	SNP	pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.L93	ENST00000354336.3	37	c.277	CCDS13785.1	22																																																																																			CRKL	-	smart_SH2,pfscan_SH2	ENSG00000099942		0.587	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRKL	HGNC	protein_coding	OTTHUMT00000320158.1	-	0.00	14	0	C	NM_005207		21272499	+1	tier1	-	no_errors	ENST00000354336	ensembl	human	known	74_37	silent	33.33	10	5	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113299359	113299359	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:113299359G>A	ENST00000297405.5	-	58	9509	c.9265C>T	c.(9265-9267)Cat>Tat	p.H3089Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H3049Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H3019Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2920Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3089	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGAGCCATGAAGGATGTAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													188.0	161.0	170.0					8																	113299359		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9265C>T	8.37:g.113299359G>A	ENSP00000297405:p.His3089Tyr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H3089Y	ENST00000297405.5	37	c.9265	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814897	0.32053	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.36	3.52	0.40303	Complement control module (2);Sushi/SCR/CCP (3);	0.317269	0.29908	N	0.010884	T	0.33644	0.0870	N	0.04787	-0.16	0.23411	N	0.997738	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.003	T	0.19811	-1.0294	10	0.06365	T	0.9	.	9.7007	0.40184	0.0743:0.0:0.7841:0.1416	.	2920;3089;3049	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	3049;3089;2359;2920;3019	ENSP00000345799:H3049Y;ENSP00000297405:H3089Y;ENSP00000341558:H2359Y;ENSP00000412263:H2920Y;ENSP00000343124:H3019Y	ENSP00000297405:H3089Y	H	-	1	0	CSMD3	113368535	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	1.949000	0.40313	0.708000	0.31955	0.650000	0.86243	CAT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	82	0	G	NM_052900		113299359	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	37.21	54	32	SNP	0.999	A
CSMD3	114788	genome.wustl.edu	37	8	114290890	114290890	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:114290890A>C	ENST00000297405.5	-	3	689	c.445T>G	c.(445-447)Tct>Gct	p.S149A	CSMD3_ENST00000343508.3_Missense_Mutation_p.S109A|CSMD3_ENST00000352409.3_Missense_Mutation_p.S149A|CSMD3_ENST00000455883.2_Missense_Mutation_p.S149A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	149	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGAACACAGATTTGGTACTT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													124.0	109.0	115.0					8																	114290890		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.445T>G	8.37:g.114290890A>C	ENSP00000297405:p.Ser149Ala		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S149A	ENST00000297405.5	37	c.445	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539119	0.65085	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.18	5.18	0.71444	CUB (5);	0.194050	0.32175	N	0.006461	T	0.55641	0.1933	M	0.80746	2.51	0.31619	N	0.650514	P;D;B;B	0.56035	0.902;0.974;0.165;0.047	P;D;B;B	0.67725	0.817;0.953;0.082;0.026	T	0.66320	-0.5953	10	0.56958	D	0.05	.	13.2705	0.60157	1.0:0.0:0.0:0.0	.	149;149;149;109	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	A	109;149;149;149	ENSP00000345799:S109A;ENSP00000297405:S149A;ENSP00000412263:S149A;ENSP00000343124:S149A	ENSP00000297405:S149A	S	-	1	0	CSMD3	114360066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.668000	0.91158	2.071000	0.62044	0.443000	0.29094	TCT	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	31	0	A	NM_052900		114290890	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	C
DAAM1	23002	genome.wustl.edu	37	14	59789936	59789936	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr14:59789936G>A	ENST00000395125.1	+	5	790	c.767G>A	c.(766-768)cGc>cAc	p.R256H	DAAM1_ENST00000360909.3_Missense_Mutation_p.R256H|DAAM1_ENST00000351081.1_Missense_Mutation_p.R256H	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	256	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAAGGACCCGCTTTCAGGTG	0.547																																																	0													18.0	18.0	18.0					14																	59789936		2203	4300	6503	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.767G>A	14.37:g.59789936G>A	ENSP00000378557:p.Arg256His		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.R256H	ENST00000395125.1	37	c.767	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669915	0.88348	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89875	-2.58;-2.58;-2.58	6.02	6.02	0.97574	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.095632	0.64402	D	0.000001	D	0.96300	0.8793	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.96322	0.9237	10	0.66056	D	0.02	.	20.1323	0.98003	0.0:0.0:1.0:0.0	.	256;256	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	H	256	ENSP00000354162:R256H;ENSP00000247170:R256H;ENSP00000378557:R256H	ENSP00000247170:R256H	R	+	2	0	DAAM1	58859689	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	CGC	DAAM1	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000100592		0.547	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2		0.00	22	0	G	NM_014992		59789936	+1			no_errors	ENST00000351081	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	A
DBNL	28988	genome.wustl.edu	37	7	44098544	44098544	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:44098544G>C	ENST00000448521.1	+	9	895	c.797G>C	c.(796-798)aGg>aCg	p.R266T	DBNL_ENST00000490734.2_Missense_Mutation_p.R172T|DBNL_ENST00000452943.1_Missense_Mutation_p.R242T|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Missense_Mutation_p.R218T|DBNL_ENST00000468694.1_Missense_Mutation_p.R275T|DBNL_ENST00000440166.1_Missense_Mutation_p.R163T|DBNL_ENST00000494774.1_Missense_Mutation_p.R267T	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	266					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CAGAAGGAGAGGGCCATGTCC	0.627																																					NSCLC(68;573 1327 18604 34760 37992)												0													114.0	101.0	105.0					7																	44098544		2203	4300	6503	SO:0001583	missense	0			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.797G>C	7.37:g.44098544G>C	ENSP00000411701:p.Arg266Thr		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain	p.R275T	ENST00000448521.1	37	c.824	CCDS34623.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.0|23.0|23.0	4.368011|4.368011|4.368011	0.82463|0.82463|0.82463	.|.|.	.|.|.	ENSG00000136279|ENSG00000136279|ENSG00000136279	ENST00000432854|ENST00000452661|ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	T|.|T;T;T;T;T;T;T	0.26810|.|0.33438	1.71|.|1.88;2.17;2.19;2.19;1.41;1.89;2.18	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	.|.|.	.|.|0.046501	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.52484|0.52484|0.52484	0.1737|0.1737|0.1737	M|M|M	0.66939|0.66939|0.66939	2.045|2.045|2.045	0.41855|0.41855|0.41855	D|D|D	0.990191|0.990191|0.990191	.|.|D;D;D;D;D;D;D;P;D	.|.|0.89917	.|.|1.0;0.998;0.996;1.0;0.97;0.998;0.997;0.952;0.992	.|.|D;P;D;D;D;P;D;P;P	.|.|0.85130	.|.|0.94;0.859;0.954;0.997;0.921;0.859;0.933;0.663;0.903	T|T|T	0.53301|0.53301|0.53301	-0.8458|-0.8458|-0.8458	7|5|10	0.51188|.|0.62326	T|.|D	0.08|.|0.03	-47.9447|-47.9447|-47.9447	12.2999|12.2999|12.2999	0.54868|0.54868|0.54868	0.0797:0.0:0.9203:0.0|0.0797:0.0:0.9203:0.0|0.0797:0.0:0.9203:0.0	.|.|.	.|.|163;215;196;218;172;242;275;266;267	.|.|B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.|.|.;.;.;.;.;.;.;DBNL_HUMAN;.	D|R|T	194|6|266;218;163;242;275;267;172;196	ENSP00000398931:E194D|.|ENSP00000411701:R266T;ENSP00000416421:R218T;ENSP00000415173:R163T;ENSP00000405343:R242T;ENSP00000417653:R275T;ENSP00000419992:R267T;ENSP00000417749:R172T	ENSP00000398931:E194D|.|ENSP00000415173:R163T	E|G|R	+|+|+	3|1|2	2|0|0	DBNL|DBNL|DBNL	44065069|44065069|44065069	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	2.629000|2.629000|2.629000	0.46485|0.46485|0.46485	2.684000|2.684000|2.684000	0.91462|0.91462|0.91462	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|GGG|AGG	DBNL	-	NULL	ENSG00000136279		0.627	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2		0.00	45	0	G	NM_014063		44098544	+1			no_errors	ENST00000468694	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	C
DHRSX	207063	genome.wustl.edu	37	X	2184836	2184836	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:2184836C>T	ENST00000334651.5	-	5	593	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	181							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCAGAGGAGACGGTGACCACC	0.547																																																	0									ILE/VAL	1,4405		0,1,2202	390.0	344.0	360.0		541	2.1	0.4	X	dbSNP_134	360	0,8592		0,0,4296	no	missense	DHRSX	NM_145177.2	29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	181/331	2184836	1,12997	2203	4296	6499	SO:0001583	missense	0			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.541G>A	X.37:g.2184836C>T	ENSP00000334113:p.Val181Ile		Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.V181I	ENST00000334651.5	37	c.541	CCDS35195.1	X	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629329	0.28978	2.27E-4	0.0	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	D;D;D	0.87571	-2.27;-2.27;-2.27	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.070917	0.56097	U	0.000026	D	0.89347	0.6689	L	0.59912	1.85	0.19775	N	0.999956	D	0.76494	0.999	P	0.62491	0.903	T	0.81070	-0.1099	10	0.72032	D	0.01	.	9.4639	0.38800	0.0:0.7846:0.2154:0.0	.	181	Q8N5I4	DHRSX_HUMAN	I	181;158;114	ENSP00000334113:V181I;ENSP00000391778:V158I;ENSP00000402741:V114I	ENSP00000334113:V181I	V	-	1	0	DHRSX	2194836	1.000000	0.71417	0.425000	0.26659	0.436000	0.31835	1.771000	0.38542	0.856000	0.35383	0.272000	0.19324	GTC	DHRSX	-	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase	ENSG00000169084		0.547	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	HGNC	protein_coding	OTTHUMT00000055617.3	-	0.00	145	0	C	NM_145177		2184836	-1	tier1	-	no_errors	ENST00000334651	ensembl	human	known	74_37	missense	15.92	131	25	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13871845	13871845	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:13871845T>G	ENST00000265104.4	-	23	3530	c.3426A>C	c.(3424-3426)aaA>aaC	p.K1142N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1142	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATTGTAGCGTTTGAAGCAAT	0.343									Kartagener syndrome																																								0													93.0	102.0	99.0					5																	13871845		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3426A>C	5.37:g.13871845T>G	ENSP00000265104:p.Lys1142Asn		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1142N	ENST00000265104.4	37	c.3426	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315092	0.23908	.	.	ENSG00000039139	ENST00000265104	T	0.24538	1.85	5.99	3.62	0.41486	.	0.241597	0.47093	D	0.000244	T	0.18593	0.0446	L	0.42632	1.34	0.33940	D	0.643146	B	0.02656	0.0	B	0.08055	0.003	T	0.17048	-1.0382	10	0.26408	T	0.33	.	6.1465	0.20289	0.1269:0.1353:0.0:0.7378	.	1142	Q8TE73	DYH5_HUMAN	N	1142	ENSP00000265104:K1142N	ENSP00000265104:K1142N	K	-	3	2	DNAH5	13924845	0.062000	0.20869	0.940000	0.37924	0.965000	0.64279	0.326000	0.19646	0.518000	0.28383	0.533000	0.62120	AAA	DNAH5	-	NULL	ENSG00000039139		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	65	0	T	NM_001369		13871845	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	22.08	60	17	SNP	0.605	G
DNM1P47	100216544	genome.wustl.edu	37	15	102294753	102294753	+	RNA	SNP	T	T	C	rs199837843|rs74200285		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:102294753T>C	ENST00000561463.1	+	0	2799									DNM1 pseudogene 47																		GTCCAACCTGTACTCGCGTGG	0.582																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294753T>C				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			DNM1P47	-	-	ENSG00000259660		0.582	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1		0.00	14	0	T	NG_009149		102294753	+1			no_errors	ENST00000561463	ensembl	human	known	74_37	rna	10.00	27	3	SNP	1.000	C
DPH2	1802	genome.wustl.edu	37	1	44435941	44435941	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:44435941G>A	ENST00000255108.3	+	1	266	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	DPH2_ENST00000396758.2_Missense_Mutation_p.V32M|DPH2_ENST00000412950.2_5'UTR|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	32					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCTGGACGGAGTGTACGAGCT	0.632																																																	0													75.0	81.0	79.0					1																	44435941		2203	4300	6503	SO:0001583	missense	0			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.94G>A	1.37:g.44435941G>A	ENSP00000255108:p.Val32Met		A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.V32M	ENST00000255108.3	37	c.94	CCDS504.1	1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093206	0.20471	.	.	ENSG00000132768	ENST00000255108;ENST00000396758	.	.	.	5.24	3.33	0.38152	.	0.348813	0.29791	N	0.011192	T	0.30947	0.0781	L	0.46157	1.445	0.22648	N	0.998895	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.006	T	0.13388	-1.0511	9	0.34782	T	0.22	-11.3468	5.0072	0.14293	0.2295:0.0:0.6128:0.1577	.	32;32	A8MVC9;Q9BQC3	.;DPH2_HUMAN	M	32	.	ENSP00000255108:V32M	V	+	1	0	DPH2	44208528	0.934000	0.31675	0.985000	0.45067	0.461000	0.32589	1.082000	0.30803	1.342000	0.45619	0.461000	0.40582	GTG	DPH2	-	tigrfam_DHP2_eu	ENSG00000132768		0.632	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1		0.00	24	0	G	NM_001384		44435941	+1			no_errors	ENST00000255108	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.095	A
DSCAML1	57453	genome.wustl.edu	37	11	117667753	117667753	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:117667753G>T	ENST00000321322.6	-	1	223	c.222C>A	c.(220-222)caC>caA	p.H74Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.H14Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	14	Ig-like C2-type 1.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTCACCTTTGTGTAAAGAGT	0.716																																																	0													26.0	25.0	25.0					11																	117667753		2196	4284	6480	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.222C>A	11.37:g.117667753G>T	ENSP00000315465:p.His74Gln		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H74Q	ENST00000321322.6	37	c.222	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604369	0.46423	.	.	ENSG00000177103	ENST00000527706;ENST00000321322	T;T	0.60171	0.21;0.28	4.43	3.48	0.39840	.	.	.	.	.	T	0.31979	0.0814	N	0.08118	0	0.32982	D	0.523803	B	0.02656	0.0	B	0.01281	0.0	T	0.32903	-0.9889	9	0.15499	T	0.54	.	7.6409	0.28292	0.0:0.1813:0.6316:0.187	.	14	Q8TD84	DSCL1_HUMAN	Q	14;74	ENSP00000434335:H14Q;ENSP00000315465:H74Q	ENSP00000315465:H74Q	H	-	3	2	DSCAML1	117172963	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.089000	0.30890	0.916000	0.36871	0.448000	0.29417	CAC	DSCAML1	-	NULL	ENSG00000177103		0.716	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0.00	30	0	G	NM_020693		117667753	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T
DYNC1I2	1781	genome.wustl.edu	37	2	172549338	172549339	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:172549338_172549339insA	ENST00000397119.3	+	3	327_328	c.160_161insA	c.(160-162)gaafs	p.E54fs	DYNC1I2_ENST00000508530.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000534253.2_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409197.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000410079.3_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.E54fs	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	54					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)	p.R57fs*13(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCAGATCTTGAAAAAAAAAGG	0.351																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.169dupA	2.37:g.172549347_172549347dupA	ENSP00000380308:p.Glu54fs		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Frame_Shift_Ins	INS	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R57fs	ENST00000397119.3	37	c.160_161	CCDS46450.1	2																																																																																			DYNC1I2	-	NULL	ENSG00000077380		0.351	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2		0.00	26	0	-	NM_001378		172549339	+1	tier1		no_errors	ENST00000397119	ensembl	human	known	74_37	frame_shift_ins	7.89	35	3	INS	1.000:1.000	A
EIF3K	27335	genome.wustl.edu	37	19	39123261	39123261	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:39123261A>T	ENST00000538434.1	+	5	416	c.181A>T	c.(181-183)Atc>Ttc	p.I61F	EIF3K_ENST00000592558.1_Intron|EIF3K_ENST00000545173.2_Missense_Mutation_p.I148F|EIF3K_ENST00000248342.4_Missense_Mutation_p.I148F|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000593149.1_Missense_Mutation_p.I61F					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTTGTGGGTATCACTTACCA	0.617																																																	0													77.0	65.0	69.0					19																	39123261		2203	4300	6503	SO:0001583	missense	0			AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.181A>T	19.37:g.39123261A>T	ENSP00000440999:p.Ile61Phe			Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.I148F	ENST00000538434.1	37	c.442		19	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721227	0.89205	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	5.36	5.36	0.76844	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.99;0.986	T	0.82204	-0.0573	9	0.87932	D	0	-28.0935	14.6244	0.68611	1.0:0.0:0.0:0.0	.	61;148;148	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	F	148;61;148	.	ENSP00000248342:I148F	I	+	1	0	EIF3K	43815101	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	8.617000	0.90927	2.148000	0.66965	0.460000	0.39030	ATC	EIF3K	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000178982		0.617	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453409.1	-	0.00	59	0	A	NM_013234		39123261	+1	tier1	-	no_errors	ENST00000248342	ensembl	human	known	74_37	missense	35.09	37	20	SNP	1.000	T
LOC101927209	101927209	genome.wustl.edu	37	1	142620909	142620909	+	lincRNA	SNP	C	C	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:142620909C>A	ENST00000610091.1	-	0	6574				RP11-417J8.3_ENST00000426408.1_lincRNA																							AGAGCTTTCCCAGGTAATGTG	0.458																																																	0																																												0																															1.37:g.142620909C>A				RNA	SNP	-	NULL	ENST00000610091.1	37	NULL		1																																																																																			RP11-417J8.6	-	-	ENSG00000203849		0.458	RP11-417J8.6-001	KNOWN	basic	lincRNA	ENSG00000203849	Clone_based_vega_gene	lincRNA	OTTHUMT00000037265.2		0.00	39	0	C			142620909	-1			no_errors	ENST00000369381	ensembl	human	known	74_37	rna	7.89	35	3	SNP	0.074	A
RP4-529N6.1	0	genome.wustl.edu	37	6	4610914	4610914	+	lincRNA	SNP	T	T	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:4610914T>G	ENST00000380106.2	+	0	25																											CATCAGAAGTTTGCAGGACGT	0.512																																																	0																																												0																															6.37:g.4610914T>G				RNA	SNP	-	NULL	ENST00000380106.2	37	NULL		6																																																																																			RP4-529N6.1	-	-	ENSG00000205444		0.512	RP4-529N6.1-001	KNOWN	basic	lincRNA	ENSG00000205444	Clone_based_vega_gene	lincRNA	OTTHUMT00000039731.1	-	0.00	17	0	T			4610914	+1	tier1	-	no_errors	ENST00000380106	ensembl	human	known	74_37	rna	38.46	16	10	SNP	0.000	G
IGF2	3481	genome.wustl.edu	37	11	2150629	2150629	+	3'UTR	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:2150629G>T	ENST00000416167.2	-	0	5297				AC132217.4_ENST00000430034.1_RNA|IGF2_ENST00000381395.1_3'UTR|IGF2_ENST00000300632.5_3'UTR|IGF2_ENST00000381406.4_3'UTR			P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACGGAGGTCAGACAGGCAGCC	0.662																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.*3588C>A	11.37:g.2150629G>T			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	RNA	SNP	-	NULL	ENST00000416167.2	37	NULL	CCDS7728.1	11																																																																																			AC132217.4	-	-	ENSG00000240801		0.662	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000240801	Clone_based_vega_gene	protein_coding	OTTHUMT00000026053.2	-	0.00	10	0	G	NM_000612		2150629	-1	tier1	-	no_errors	ENST00000430034	ensembl	human	known	74_37	rna	43.75	9	7	SNP	0.211	T
DMPK	1760	genome.wustl.edu	37	19	46273048	46273048	+	3'UTR	SNP	C	C	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:46273048C>G	ENST00000291270.4	-	0	2713				DMPK_ENST00000600757.1_3'UTR|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|SIX5_ENST00000560168.1_5'Flank|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000343373.4_3'UTR|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000447742.2_3'UTR|SIX5_ENST00000317578.6_5'Flank|AC074212.5_ENST00000559756.1_RNA	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase						cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		ACAATAAATACCGAGGAATGT	0.567																																					Esophageal Squamous(35;307 869 9153 24033 28903)												0																																										SO:0001624	3_prime_UTR_variant	0			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.*698G>C	19.37:g.46273048C>G			E5KR08|Q16205|Q6P5Z6	RNA	SNP	-	NULL	ENST00000291270.4	37	NULL	CCDS12674.1	19																																																																																			AC074212.5	-	-	ENSG00000259605		0.567	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000259605	Clone_based_vega_gene	protein_coding	OTTHUMT00000460572.1	-	0.00	108	0	C	NM_004409		46273048	+1	tier1	-	no_errors	ENST00000592217	ensembl	human	known	74_37	rna	39.29	34	22	SNP	0.991	G
GAREM	64762	genome.wustl.edu	37	18	29993186	29993186	+	Intron	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:29993186C>T	ENST00000269209.6	-	2	125				GAREM_ENST00000399218.4_Intron|AC021224.1_ENST00000573479.1_lincRNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1						cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TCGGCGGCGTCCACGGGCAGA	0.453																																																	0																																										SO:0001627	intron_variant	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.122-20188G>A	18.37:g.29993186C>T			Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	RNA	SNP	-	NULL	ENST00000269209.6	37	NULL	CCDS56057.1	18																																																																																			AC021224.1	-	-	ENSG00000262477		0.453	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000262477	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000255365.1	-	0.00	37	0	C	NM_022751		29993186	+1	tier1	-	no_errors	ENST00000573479	ensembl	human	novel	74_37	rna	25.00	39	13	SNP	0.078	T
EPRS	2058	genome.wustl.edu	37	1	220208321	220208321	+	Missense_Mutation	SNP	G	G	T	rs529651034		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:220208321G>T	ENST00000366923.3	-	3	435	c.166C>A	c.(166-168)Cgc>Agc	p.R56S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	56					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.R56C(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GCCAAGTAGCGAAGTATAGAA	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)											152.0	142.0	145.0					1																	220208321		2203	4300	6503	SO:0001583	missense	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.166C>A	1.37:g.220208321G>T	ENSP00000355890:p.Arg56Ser		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk	p.R56S	ENST00000366923.3	37	c.166	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.561960	0.96527	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.08984	3.03	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	M	0.86502	2.82	0.80722	D	1	B;D	0.89917	0.342;1.0	B;D	0.66716	0.209;0.946	T	0.07462	-1.0771	10	0.59425	D	0.04	-14.555	20.731	0.99711	0.0:0.0:1.0:0.0	.	56;56	Q3KQZ8;P07814	.;SYEP_HUMAN	S	56	ENSP00000355890:R56S	ENSP00000355890:R56S	R	-	1	0	EPRS	218274944	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.944000	0.92980	2.907000	0.99374	0.609000	0.83330	CGC	EPRS	-	NULL	ENSG00000136628		0.363	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2		0.00	13	0	G	NM_004446		220208321	-1			no_errors	ENST00000366923	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
ERV3-1	2086	genome.wustl.edu	37	7	64452815	64452816	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:64452815_64452816CA>AG	ENST00000394323.2	-	2	1089_1090	c.589_590TG>CT	c.(589-591)TGc>CTc	p.C197L	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	197						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						tacagaattgcaagtgcttgtt	0.446																																																	0																																										SO:0001583	missense	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.589_590delinsAG	7.37:g.64452815_64452816delinsAG	ENSP00000391594:p.Cys197Leu			Missense_Mutation	SNP	NULL	p.C197F|p.C197R	ENST00000394323.2	37	c.590|c.589	CCDS47595.1	7																																																																																			ERV3-1	-	NULL	ENSG00000213462		0.446	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	-	0.00	33	0	C|A	NM_001007253		64452815|64452816	-1	tier1	-	no_errors	ENST00000394323	ensembl	human	known	74_37	missense	16.13|18.75	25|26	5|6	SNP	0.475|0.453	A|G
ETV5	2119	genome.wustl.edu	37	3	185766490	185766490	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:185766490C>T	ENST00000306376.5	-	13	1717	c.1471G>A	c.(1471-1473)Gct>Act	p.A491T	ETV5_ENST00000434744.1_Missense_Mutation_p.A491T|ETV5_ENST00000537818.1_Missense_Mutation_p.A533T|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	491					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGGAGGTAAGCGGGGCTGTCT	0.602			T	"""TMPRSS2, SCL45A3"""	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	0													83.0	79.0	81.0					3																	185766490		2203	4300	6503	SO:0001583	missense	0			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1471G>A	3.37:g.185766490C>T	ENSP00000306894:p.Ala491Thr		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.A533T	ENST00000306376.5	37	c.1597	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106742	0.37145	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.12147	2.75;2.75;2.71	6.16	5.28	0.74379	.	0.457705	0.25564	N	0.029813	T	0.12220	0.0297	L	0.39898	1.24	0.36935	D	0.892109	B;B	0.17268	0.001;0.021	B;B	0.09377	0.001;0.004	T	0.04307	-1.0961	10	0.51188	T	0.08	.	10.3948	0.44194	0.0:0.7943:0.1336:0.0721	.	491;533	P41161;B7Z7D7	ETV5_HUMAN;.	T	491;491;533	ENSP00000306894:A491T;ENSP00000413755:A491T;ENSP00000441737:A533T	ENSP00000306894:A491T	A	-	1	0	ETV5	187249184	0.825000	0.29262	0.989000	0.46669	0.951000	0.60555	1.286000	0.33273	2.937000	0.99478	0.650000	0.86243	GCT	ETV5	-	NULL	ENSG00000244405		0.602	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	-	0.00	58	0	C	NM_004454		185766490	-1	tier1	-	no_errors	ENST00000537818	ensembl	human	known	74_37	missense	38.57	43	27	SNP	0.512	T
EXOC3L1	283849	genome.wustl.edu	37	16	67222636	67222636	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:67222636G>A	ENST00000314586.6	-	4	655	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	139	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCCCGCAGCCGAGGCAGCAGG	0.627																																																	0													36.0	38.0	38.0					16																	67222636		2198	4300	6498	SO:0001583	missense	0			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.415C>T	16.37:g.67222636G>A	ENSP00000325674:p.Arg139Trp		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	pfam_Sec6	p.R139W	ENST00000314586.6	37	c.415	CCDS10832.1	16	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136438	0.56936	.	.	ENSG00000179044	ENST00000314586	T	0.09163	3.01	5.71	3.56	0.40772	.	0.285269	0.34025	N	0.004326	T	0.23330	0.0564	M	0.68317	2.08	0.42502	D	0.992935	D	0.89917	1.0	D	0.63283	0.913	T	0.00992	-1.1488	10	0.38643	T	0.18	-31.1978	7.3969	0.26942	0.0771:0.0:0.5449:0.378	.	139	Q86VI1	EX3L1_HUMAN	W	139	ENSP00000325674:R139W	ENSP00000325674:R139W	R	-	1	2	EXOC3L1	65780137	1.000000	0.71417	0.996000	0.52242	0.574000	0.36063	2.807000	0.47955	0.560000	0.29169	0.655000	0.94253	CGG	EXOC3L1	-	NULL	ENSG00000179044		0.627	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L1	HGNC	protein_coding	OTTHUMT00000268827.2	-	0.00	46	0	G	NM_178516		67222636	-1	tier1	-	no_errors	ENST00000314586	ensembl	human	known	74_37	missense	37.78	28	17	SNP	0.982	A
FAT2	2196	genome.wustl.edu	37	5	150946655	150946655	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:150946655T>C	ENST00000261800.5	-	1	1850	c.1838A>G	c.(1837-1839)aAt>aGt	p.N613S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	613	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGAAATGATTTAGATCAAA	0.408																																																	0													107.0	109.0	108.0					5																	150946655		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1838A>G	5.37:g.150946655T>C	ENSP00000261800:p.Asn613Ser		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.N613S	ENST00000261800.5	37	c.1838	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	T	16.32	3.088955	0.55968	.	.	ENSG00000086570	ENST00000261800	T	0.40756	1.02	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.256680	0.33346	N	0.005003	T	0.60983	0.2311	M	0.67569	2.06	0.45777	D	0.998668	D	0.64830	0.994	P	0.62298	0.9	T	0.63202	-0.6690	10	0.56958	D	0.05	.	16.0518	0.80769	0.0:0.0:0.0:1.0	.	613	Q9NYQ8	FAT2_HUMAN	S	613	ENSP00000261800:N613S	ENSP00000261800:N613S	N	-	2	0	FAT2	150926848	1.000000	0.71417	0.087000	0.20705	0.721000	0.41392	6.211000	0.72182	2.191000	0.70037	0.533000	0.62120	AAT	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.408	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0.00	39	0	T	NM_001447		150946655	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	54.76	19	23	SNP	0.954	C
TPRXL	348825	genome.wustl.edu	37	3	13976015	13976015	+	5'Flank	DEL	T	T	-			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:13976015delT	ENST00000326972.8	+	0	0				FGD5P1_ENST00000502451.1_RNA			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like											endometrium(1)	1						AATGCAGCCCTGGTGTCTCCC	0.632																																																	0																																										SO:0001631	upstream_gene_variant	0			AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509		3.37:g.13976015delT	Exception_encountered		Q8NAM5	RNA	DEL	-	NULL	ENST00000326972.8	37	NULL		3																																																																																			FGD5P1	-	-	ENSG00000250439		0.632	TPRXL-001	KNOWN	basic|appris_principal	protein_coding	FGD5P1	HGNC	protein_coding	OTTHUMT00000340434.2		0.00	15	0	T	NR_002223		13976015	+1	tier1		no_errors	ENST00000502451	ensembl	human	known	74_37	rna	13.33	13	2	DEL	0.827	-
FOLR3	2352	genome.wustl.edu	37	11	71850422	71850422	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:71850422T>G	ENST00000445078.2	+	4	580	c.509T>G	c.(508-510)cTg>cGg	p.L170R	FOLR3_ENST00000456237.1_Missense_Mutation_p.L172R|FOLR3_ENST00000442948.2_Missense_Mutation_p.L129R			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	128					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GAGCGCATTCTGAACGTGCCC	0.567																																																	0													23.0	23.0	23.0					11																	71850422		2198	4289	6487	SO:0001583	missense	0			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.509T>G	11.37:g.71850422T>G	ENSP00000390338:p.Leu170Arg		J3KQ90|Q05C14	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.L172R	ENST00000445078.2	37	c.515		11	.	.	.	.	.	.	.	.	.	.	N	16.53	3.148058	0.57151	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.77229	-1.08;-1.08;-1.08	3.21	2.02	0.26589	Folate receptor-like (1);	0.612298	0.13793	U	0.362396	T	0.66376	0.2783	.	.	.	0.44380	D	0.997281	P;B	0.34934	0.476;0.097	B;B	0.33254	0.1;0.16	T	0.58504	-0.7625	9	0.39692	T	0.17	.	8.4807	0.33040	0.0:0.0:0.3773:0.6227	.	172;128	E9PGT2;P41439	.;FOLR3_HUMAN	R	170;172;129	ENSP00000390338:L170R;ENSP00000399235:L172R;ENSP00000411161:L129R	ENSP00000411161:L129R	L	+	2	0	FOLR3	71528070	0.997000	0.39634	0.015000	0.15790	0.266000	0.26442	3.893000	0.56243	0.400000	0.25396	0.482000	0.46254	CTG	FOLR3	-	pfam_Folate_rcpt-like	ENSG00000110203		0.567	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	-	0.00	64	0	T	NM_000804		71850422	+1	tier1	-	no_errors	ENST00000456237	ensembl	human	known	74_37	missense	16.30	112	22	SNP	0.881	G
GAGE2D	729408	genome.wustl.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278																0										10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	0					Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup		A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	pfam_GAGE	p.9in_frame_insY	ENST00000404720.2	37	c.24_25	CCDS43941.1	X																																																																																			GAGE2D	-	pfam_GAGE	ENSG00000240257		0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAGE2D	HGNC	protein_coding	OTTHUMT00000144212.1		0.00	22	0	0	NM_001098407		49208296	+1			no_errors	ENST00000404720	ensembl	human	known	74_37	in_frame_ins	17.78	37	8	INS	0.002:0.002	TAT
FRMPD3	84443	genome.wustl.edu	37	X	106846540	106846540	+	Silent	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:106846540C>T	ENST00000276185.4	+	16	5370	c.5370C>T	c.(5368-5370)ggC>ggT	p.G1790G				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1790						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ATCCACCAGGCTCCCCAACTT	0.567																																																	0													2.0	2.0	2.0					X																	106846540		553	1285	1838	SO:0001819	synonymous_variant	0			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.5370C>T	X.37:g.106846540C>T			Q96JK8	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.G1790	ENST00000276185.4	37	c.5370		X																																																																																			FRMPD3	-	NULL	ENSG00000147234		0.567	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		-	0.00	29	0	C	XM_042978		106846540	+1	tier1	-	no_errors	ENST00000276185	ensembl	human	known	74_37	silent	38.46	16	10	SNP	0.984	T
MYZAP	100820829	genome.wustl.edu	37	15	57921909	57921909	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:57921909G>C	ENST00000267853.5	+	6	629	c.535G>C	c.(535-537)Gtg>Ctg	p.V179L	GCOM1_ENST00000380561.2_Missense_Mutation_p.V148L|GCOM1_ENST00000572390.1_Missense_Mutation_p.V179L|GCOM1_ENST00000380560.2_Missense_Mutation_p.V110L|GCOM1_ENST00000587652.1_Missense_Mutation_p.V179L|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.V179L|GCOM1_ENST00000396180.1_Missense_Mutation_p.V148L|GCOM1_ENST00000574161.1_Missense_Mutation_p.V179L|MYZAP_ENST00000380565.4_Missense_Mutation_p.V179L|GCOM1_ENST00000380568.3_Missense_Mutation_p.V179L			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	179					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GAAAACCCTCGTGGATGTGAC	0.458																																																	0													82.0	77.0	78.0					15																	57921909		2192	4292	6484	SO:0001583	missense	0			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.535G>C	15.37:g.57921909G>C	ENSP00000267853:p.Val179Leu		D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	NULL	p.V179L	ENST00000267853.5	37	c.535	CCDS10162.1	15	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892391	0.33442	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.43	5.43	0.79202	.	0.065610	0.64402	D	0.000008	T	0.47322	0.1439	L	0.41710	1.295	0.80722	D	1	D;D;D;P	0.76494	0.999;0.999;0.999;0.613	D;D;D;P	0.87578	0.998;0.998;0.998;0.506	T	0.17899	-1.0354	10	0.27082	T	0.32	-24.9226	18.0346	0.89296	0.0:0.0:1.0:0.0	.	179;179;179;179	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	L	179;148;148;110;179;179;179	ENSP00000369943:V179L;ENSP00000369935:V148L;ENSP00000379483:V148L;ENSP00000369933:V110L;ENSP00000267853:V179L;ENSP00000369939:V179L;ENSP00000369942:V179L	ENSP00000267853:V179L	V	+	1	0	GCOM1	55709201	1.000000	0.71417	0.991000	0.47740	0.032000	0.12392	3.730000	0.55006	2.540000	0.85666	0.650000	0.86243	GTG	GCOM1	-	NULL	ENSG00000137878		0.458	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCOM1	HGNC	protein_coding	OTTHUMT00000255716.2		0.00	36	0	G	NM_001018100		57921909	+1			no_errors	ENST00000380569	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.981	C
GEN1	348654	genome.wustl.edu	37	2	17962626	17962626	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:17962626C>T	ENST00000381254.2	+	14	2361	c.2147C>T	c.(2146-2148)aCa>aTa	p.T716I	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.T716I	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	716					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTGATTGTACATCACATCTT	0.363								Homologous recombination																																									0													108.0	117.0	114.0					2																	17962626		2203	4300	6503	SO:0001583	missense	0			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2147C>T	2.37:g.17962626C>T	ENSP00000370653:p.Thr716Ile		Q17RS9|Q6ZN37	Missense_Mutation	SNP	pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.T716I	ENST00000381254.2	37	c.2147	CCDS1691.1	2	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145527	0.09134	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.25085	1.82;1.82	5.41	-1.8	0.07907	.	0.875100	0.09688	N	0.768787	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.26985	-1.0087	10	0.54805	T	0.06	0.8359	7.1161	0.25416	0.1035:0.4882:0.0:0.4083	.	716	Q17RS7	GEN_HUMAN	I	716;716;353	ENSP00000318977:T716I;ENSP00000370653:T716I	ENSP00000318977:T716I	T	+	2	0	GEN1	17826107	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.025000	0.13577	-0.623000	0.05618	-0.136000	0.14681	ACA	GEN1	-	NULL	ENSG00000178295		0.363	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2		0.00	15	0	C	NM_182625		17962626	+1			no_errors	ENST00000317402	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.000	T
GFRA3	2676	genome.wustl.edu	37	5	137600203	137600203	+	Silent	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:137600203G>A	ENST00000274721.3	-	2	372	c.126C>T	c.(124-126)aaC>aaT	p.N42N	GFRA3_ENST00000378362.3_Silent_p.N42N	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	42					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGAGACAGCTGTTCATGAGTC	0.547																																																	0													64.0	61.0	62.0					5																	137600203		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.126C>T	5.37:g.137600203G>A			B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.N42	ENST00000274721.3	37	c.126	CCDS4201.1	5																																																																																			GFRA3	-	prints_GDNF_rcpt_A3	ENSG00000146013		0.547	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	-	0.00	72	0	G	NM_001496		137600203	-1	tier1	-	no_errors	ENST00000274721	ensembl	human	known	74_37	silent	13.16	66	10	SNP	0.177	A
GMEB1	10691	genome.wustl.edu	37	1	29041385	29041386	+	3'UTR	INS	-	-	A	rs372271712|rs559808019|rs528044464	byFrequency	TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:29041385_29041386insA	ENST00000294409.2	+	0	1912				GMEB1_ENST00000361872.4_3'UTR|GMEB1_ENST00000373816.1_3'UTR|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCTTTTTTAAAAAAAAAAA	0.342																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.*100->A	1.37:g.29041396_29041396dupA			B1AT48|Q9NWH1|Q9UKD0	RNA	INS	-	NULL	ENST00000294409.2	37	NULL	CCDS327.1	1																																																																																			GMEB1	-	-	ENSG00000162419		0.342	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1		0.00	11	0	-	NM_006582		29041386	+1	tier1		no_errors	ENST00000480454	ensembl	human	known	74_37	rna	35.29	11	6	INS	0.437:0.252	A
GPATCH11	253635	genome.wustl.edu	37	2	37316991	37316991	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:37316991C>A	ENST00000608836.1	+	3	401	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	GPATCH11_ENST00000281932.5_Intron|GPATCH11_ENST00000409774.1_Missense_Mutation_p.Q112K	NM_174931.2	NP_777591.3	Q8N954	GPT11_HUMAN	G patch domain containing 11	86	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						nucleic acid binding (GO:0003676)										TAAAAGTGGTCAGGCACTTGG	0.413																																																	0													83.0	80.0	81.0					2																	37316991		692	1591	2283	SO:0001583	missense	0			AK095667	CCDS1785.2, CCDS62891.1, CCDS1785.3	2p22.2	2013-11-05	2013-01-28	2013-01-28	ENSG00000152133	ENSG00000152133		"""G patch domain containing"""	26768	protein-coding gene	gene with protein product	"""centromere protein Y"""		"""coiled-coil domain containing 75"""	CCDC75			Standard	NM_001278505		Approved	FLJ38348, CENPY, CENP-Y	uc010ezz.3	Q8N954	OTTHUMG00000128469	ENST00000608836.1:c.256C>A	2.37:g.37316991C>A	ENSP00000476383:p.Gln86Lys		A8K0D9|B7Z2G4|B8ZZ44	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.Q112K	ENST00000608836.1	37	c.334	CCDS1785.2	2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761325	0.49468	.	.	ENSG00000152133	ENST00000409774	T	0.32272	1.46	5.27	5.27	0.74061	D111/G-patch (3);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	N	0.25144	0.715	0.80722	D	1	D	0.56968	0.978	P	0.54499	0.754	T	0.02966	-1.1088	10	0.13853	T	0.58	-15.3355	17.8666	0.88796	0.0:1.0:0.0:0.0	.	86	Q8N954	CCD75_HUMAN	K	86	ENSP00000386772:Q86K	ENSP00000386772:Q86K	Q	+	1	0	CCDC75	37170495	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.911000	0.75746	2.450000	0.82876	0.650000	0.86243	CAG	GPATCH11	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	ENSG00000152133		0.413	GPATCH11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH11	HGNC	protein_coding		-	0.00	39	0	C	NM_174931		37316991	+1	tier1	-	no_errors	ENST00000409774	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A
GRHL2	79977	genome.wustl.edu	37	8	102570829	102570829	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:102570829C>T	ENST00000251808.3	+	4	805	c.467C>T	c.(466-468)aCg>aTg	p.T156M	GRHL2_ENST00000395927.1_Missense_Mutation_p.T140M	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	156					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCGGGAATCACGGTGGTGAAA	0.522																																																	0													108.0	101.0	104.0					8																	102570829		2203	4300	6503	SO:0001583	missense	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.467C>T	8.37:g.102570829C>T	ENSP00000251808:p.Thr156Met		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.T156M	ENST00000251808.3	37	c.467	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	5.596	0.294720	0.10567	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12255	2.7;2.7	5.33	4.25	0.50352	.	0.393637	0.33534	N	0.004805	T	0.13415	0.0325	L	0.47716	1.5	0.09310	N	0.999999	B;B	0.21147	0.052;0.045	B;B	0.12156	0.007;0.007	T	0.09840	-1.0656	10	0.41790	T	0.15	-13.484	12.7005	0.57029	0.0:0.8611:0.0:0.1389	.	156;156	B4DL28;Q6ISB3	.;GRHL2_HUMAN	M	156;140;156	ENSP00000251808:T156M;ENSP00000379260:T140M	ENSP00000251808:T156M	T	+	2	0	GRHL2	102640005	0.997000	0.39634	0.315000	0.25238	0.141000	0.21300	4.005000	0.57075	2.484000	0.83849	0.637000	0.83480	ACG	GRHL2	-	NULL	ENSG00000083307		0.522	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	-	0.00	37	0	C	NM_024915		102570829	+1	tier1	-	no_errors	ENST00000251808	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.012	T
GRIA4	2893	genome.wustl.edu	37	11	105850988	105850989	+	3'UTR	INS	-	-	AA	rs34706698|rs372708950|rs555745202|rs397741121	byFrequency	TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:105850988_105850989insAA	ENST00000530497.1	+	0	3231_3232				GRIA4_ENST00000282499.5_3'UTR|GRIA4_ENST00000393127.2_3'UTR|GRIA4_ENST00000533094.1_3'UTR			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AAACCTGTGGGAAAAAAAAATA	0.327																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.*523->AA	11.37:g.105850995_105850996dupAA			Q86XE8	RNA	INS	-	NULL	ENST00000530497.1	37	NULL	CCDS8333.1	11																																																																																			GRIA4	-	-	ENSG00000152578		0.327	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0.00	58	0	-			105850989	+1	tier1		no_errors	ENST00000533094	ensembl	human	putative	74_37	rna	6.98	40	3	INS	0.176:0.170	AA
HECW1	23072	genome.wustl.edu	37	7	43157830	43157831	+	Intron	INS	-	-	A	rs371047353|rs570118410		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:43157830_43157831insA	ENST00000395891.2	+	2	574				HECW1_ENST00000453890.1_Intron|HECW1-IT1_ENST00000322220.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						GTGTGTGAAAGAAAAAAAAAAG	0.351																																																	0																																										SO:0001627	intron_variant	0			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.-32+3840->A	7.37:g.43157840_43157840dupA			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	RNA	INS	-	NULL	ENST00000395891.2	37	NULL	CCDS5469.2	7																																																																																			HECW1-IT1	-	-	ENSG00000181211		0.351	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1-IT1	HGNC	protein_coding	OTTHUMT00000250893.2		0.00	43	0	-	NM_015052		43157831	+1	tier1		no_errors	ENST00000322220	ensembl	human	known	74_37	rna	9.80	46	5	INS	0.031:0.000	A
GUSB	2990	genome.wustl.edu	37	7	65444784	65444784	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:65444784C>T	ENST00000304895.4	-	3	641	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	GUSB_ENST00000345660.6_Missense_Mutation_p.A171T|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	171					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTGTTGATGGCGATAGTGATT	0.617																																																	0													176.0	175.0	175.0					7																	65444784		2203	4300	6503	SO:0001583	missense	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.511G>A	7.37:g.65444784C>T	ENSP00000302728:p.Ala171Thr		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.A171T	ENST00000304895.4	37	c.511	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582578	0.65992	.	.	ENSG00000169919	ENST00000304895;ENST00000345660	D;D	0.94828	-3.53;-3.53	5.23	5.23	0.72850	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	M	0.76002	2.32	0.80722	D	1	D	0.58620	0.983	P	0.45639	0.488	D	0.93512	0.6854	10	0.29301	T	0.29	.	17.853	0.88754	0.0:1.0:0.0:0.0	.	171	P08236	BGLR_HUMAN	T	171	ENSP00000302728:A171T;ENSP00000340734:A171T	ENSP00000302728:A171T	A	-	1	0	GUSB	65082219	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	7.234000	0.78134	2.456000	0.83038	0.556000	0.70494	GCC	GUSB	-	pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like	ENSG00000169919		0.617	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	-	0.00	48	0	C	NM_000181		65444784	-1	tier1	-	no_errors	ENST00000304895	ensembl	human	known	74_37	missense	29.82	40	17	SNP	1.000	T
GTF2I	2969	genome.wustl.edu	37	7	74167460	74167460	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:74167460A>T	ENST00000324896.4	+	29	2981	c.2592A>T	c.(2590-2592)aaA>aaT	p.K864N	GTF2I_ENST00000353920.4_Missense_Mutation_p.K844N|GTF2I_ENST00000416070.1_Missense_Mutation_p.K823N|GTF2I_ENST00000346152.4_Missense_Mutation_p.K843N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	864					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGTTGAAAAAGCTAGACAGC	0.318																																																	0													11.0	10.0	10.0					7																	74167460		2121	4222	6343	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.2592A>T	7.37:g.74167460A>T	ENSP00000322542:p.Lys864Asn		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.K864N	ENST00000324896.4	37	c.2592	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816886	0.70912	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.99	-2.95	0.05564	.	0.148393	0.45606	D	0.000352	T	0.39517	0.1081	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.978;0.995;0.999;0.989	D;D;D;D;D	0.87578	0.995;0.971;0.994;0.998;0.98	T	0.11275	-1.0594	10	0.66056	D	0.02	-27.5998	12.689	0.56964	0.1405:0.0:0.7357:0.1238	.	842;823;844;843;864	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	N	864;859;844;843;823	ENSP00000322542:K864N;ENSP00000322671:K844N;ENSP00000322599:K843N;ENSP00000387651:K823N	ENSP00000322542:K864N	K	+	3	2	GTF2I	73805396	0.976000	0.34144	0.795000	0.32087	0.994000	0.84299	-0.013000	0.12678	-0.703000	0.05049	0.369000	0.22263	AAA	GTF2I	-	superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	ENSG00000077809		0.318	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1		0.00	67	0	A	NM_032999		74167460	+1			no_errors	ENST00000324896	ensembl	human	known	74_37	missense	9.92	109	12	SNP	0.975	T
HGSNAT	138050	genome.wustl.edu	37	8	43046701	43046701	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:43046701G>T	ENST00000458501.2	+	12	1297	c.1297G>T	c.(1297-1299)Ggc>Tgc	p.G433C	HGSNAT_ENST00000379644.4_Missense_Mutation_p.G405C|HGSNAT_ENST00000297798.7_Missense_Mutation_p.G137C|HGSNAT_ENST00000521576.1_Missense_Mutation_p.G122C			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	433					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCTGTGGCTGGGCTTGACATT	0.612																																																	0													79.0	85.0	83.0					8																	43046701		2047	4194	6241	SO:0001583	missense	0				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1297G>T	8.37:g.43046701G>T	ENSP00000389524:p.Gly433Cys		B4E2V0	Missense_Mutation	SNP	pfam_DUF1624	p.G433C	ENST00000458501.2	37	c.1297		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.303|9.303	1.053711|1.053711	0.19907|0.19907	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798|ENST00000522082;ENST00000524016	T;T;T;T|.	0.21543|.	2.33;2.35;2.01;2.0|.	5.24|5.24	0.528|0.528	0.17089|0.17089	.|.	0.935307|0.935307	0.09121|0.09121	N|N	0.845774|0.845774	T|T	0.11452|0.11452	0.0279|0.0279	N|N	0.01874|0.01874	-0.695|-0.695	0.21841|0.21841	N|N	0.999514|0.999514	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.27839|0.27839	-1.0062|-1.0062	10|7	0.32370|0.38643	T|T	0.25|0.18	-1.2323|-1.2323	6.7957|6.7957	0.23725|0.23725	0.0992:0.0:0.2765:0.6242|0.0992:0.0:0.2765:0.6242	.|.	433|.	Q68CP4|.	HGNAT_HUMAN|.	C|V	433;405;122;137|174;106	ENSP00000389524:G433C;ENSP00000368965:G405C;ENSP00000429029:G122C;ENSP00000297798:G137C|.	ENSP00000297798:G137C|ENSP00000430151:G174V	G|G	+|+	1|2	0|0	HGSNAT|HGSNAT	43165858|43165858	0.557000|0.557000	0.26546|0.26546	0.373000|0.373000	0.26003|0.26003	0.013000|0.013000	0.08279|0.08279	1.526000|1.526000	0.35964|0.35964	0.158000|0.158000	0.19367|0.19367	-0.188000|-0.188000	0.12872|0.12872	GGC|GGG	HGSNAT	-	NULL	ENSG00000165102		0.612	HGSNAT-202	KNOWN	basic	protein_coding	HGSNAT	HGNC	protein_coding		-	0.00	60	0	G	XM_372038		43046701	+1	tier1	-	no_errors	ENST00000458501	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.545	T
HHLA1	10086	genome.wustl.edu	37	8	133112334	133112334	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:133112334G>A	ENST00000414222.1	-	3	186	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F	HHLA1_ENST00000434736.2_Missense_Mutation_p.L99F	NM_001145095.1	NP_001138567.1	C9JL84	HHLA1_HUMAN	HERV-H LTR-associating 1	63						extracellular region (GO:0005576)				endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2)	12						GTCGTAGCAAGAAATGCCACC	0.522																																																	0													114.0	124.0	121.0					8																	133112334		692	1591	2283	SO:0001583	missense	0			AF110315		8q24	2011-03-01			ENSG00000132297	ENSG00000132297			4904	protein-coding gene	gene with protein product		604109		PLA2L		10329003	Standard	NM_001145095		Approved		uc011liy.1	C9JL84	OTTHUMG00000140390	ENST00000414222.1:c.187C>T	8.37:g.133112334G>A	ENSP00000388322:p.Leu63Phe			Missense_Mutation	SNP	NULL	p.L63F	ENST00000414222.1	37	c.187		8	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863816	0.32884	.	.	ENSG00000132297	ENST00000414222;ENST00000434736	.	.	.	4.95	4.06	0.47325	.	.	.	.	.	T	0.51669	0.1688	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.41787	-0.9489	8	0.59425	D	0.04	.	12.4885	0.55886	0.0:0.0:0.8321:0.1679	.	63	C9JL84	HHLA1_HUMAN	F	63;99	.	ENSP00000388322:L63F	L	-	1	0	HHLA1	133181516	0.815000	0.29118	0.056000	0.19401	0.112000	0.19704	2.218000	0.42889	1.377000	0.46286	0.561000	0.74099	CTT	HHLA1	-	NULL	ENSG00000132297		0.522	HHLA1-201	KNOWN	basic|appris_principal	protein_coding	HHLA1	HGNC	protein_coding		-	0.00	28	0	G	XR_017860		133112334	-1	tier1	-	no_errors	ENST00000414222	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.174	A
HIST1H3D	8351	genome.wustl.edu	37	6	26197139	26197139	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:26197139G>T	ENST00000356476.2	-	1	339	c.340C>A	c.(340-342)Cac>Aac	p.H114N	HIST1H3D_ENST00000377831.5_Missense_Mutation_p.H114N|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	114					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CGCTTGGCGTGAATGGCGCAT	0.567																																					GBM(108;3816 4467)												0													101.0	90.0	94.0					6																	26197139		2203	4300	6503	SO:0001583	missense	0			Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.340C>A	6.37:g.26197139G>T	ENSP00000366999:p.His114Asn		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.H114N	ENST00000356476.2	37	c.340	CCDS4590.1	6	.	.	.	.	.	.	.	.	.	.	.	19.32	3.805686	0.70682	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.55760	0.5;0.5	4.14	4.14	0.48551	.	.	.	.	.	T	0.61198	0.2328	.	.	.	0.40332	D	0.978939	.	.	.	.	.	.	T	0.68834	-0.5304	6	0.87932	D	0	.	15.7714	0.78173	0.0:0.0:1.0:0.0	.	.	.	.	N	114	ENSP00000366999:H114N;ENSP00000367062:H114N	ENSP00000366999:H114N	H	-	1	0	HIST1H3D	26305118	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.346000	0.65992	2.013000	0.59113	0.561000	0.74099	CAC	HIST1H3D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000197409		0.567	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3D	HGNC	protein_coding	OTTHUMT00000040096.1	-	0.00	91	0	G	NM_003530		26197139	-1	tier1	-	no_errors	ENST00000356476	ensembl	human	known	74_37	missense	47.52	53	48	SNP	1.000	T
HIST1H2AL	8332	genome.wustl.edu	37	6	27833153	27833153	+	Silent	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:27833153G>A	ENST00000357320.2	+	1	120	c.21G>A	c.(19-21)caG>caA	p.Q7Q		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	7						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GCGGCAAGCAGGGAGGCAAAG	0.572																																																	0													84.0	94.0	91.0					6																	27833153		2203	4300	6503	SO:0001819	synonymous_variant	0			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.21G>A	6.37:g.27833153G>A			P02261|Q2M1R2|Q76PA6	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.Q7	ENST00000357320.2	37	c.21	CCDS4634.1	6																																																																																			HIST1H2AL	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000198374		0.572	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AL	HGNC	protein_coding	OTTHUMT00000040160.1	-	0.00	53	0	G	NM_003511		27833153	+1	tier1	-	no_errors	ENST00000357320	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.996	A
HSPG2	3339	genome.wustl.edu	37	1	22181417	22181417	+	Missense_Mutation	SNP	G	G	T	rs201990135		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:22181417G>T	ENST00000374695.3	-	48	6136	c.6057C>A	c.(6055-6057)gaC>gaA	p.D2019E	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2019	Ig-like C2-type 5.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGAAGCCGGCGTCAGCAGTCG	0.647																																																	0													78.0	77.0	77.0					1																	22181417		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6057C>A	1.37:g.22181417G>T	ENSP00000363827:p.Asp2019Glu		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.D2019E	ENST00000374695.3	37	c.6057	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418883	0.42918	.	.	ENSG00000142798	ENST00000374695	T	0.81163	-1.46	5.54	-4.69	0.03299	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40144	N	0.001167	D	0.87625	0.6224	M	0.84433	2.695	0.40004	D	0.975207	D	0.76494	0.999	D	0.76071	0.987	D	0.86884	0.2044	10	0.46703	T	0.11	.	14.2117	0.65769	0.7042:0.0:0.2958:0.0	.	2019	P98160	PGBM_HUMAN	E	2019	ENSP00000363827:D2019E	ENSP00000363827:D2019E	D	-	3	2	HSPG2	22054004	0.006000	0.16342	0.214000	0.23707	0.309000	0.27889	-0.755000	0.04782	-0.835000	0.04234	-1.036000	0.02392	GAC	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000142798		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0.00	68	0	G	NM_005529		22181417	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.602	T
HMCN1	83872	genome.wustl.edu	37	1	185985349	185985349	+	Silent	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:185985349C>T	ENST00000271588.4	+	32	5398	c.5169C>T	c.(5167-5169)atC>atT	p.I1723I	HMCN1_ENST00000367492.2_Silent_p.I1723I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1723	Ig-like C2-type 14.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAAGGAAATCAAATATGAAG	0.403																																																	0													93.0	86.0	89.0					1																	185985349		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5169C>T	1.37:g.185985349C>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.I1723	ENST00000271588.4	37	c.5169	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0.00	38	0	C	NM_031935		185985349	+1			no_errors	ENST00000271588	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	T
IGFBPL1	347252	genome.wustl.edu	37	9	38414111	38414111	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr9:38414111G>T	ENST00000377694.1	-	2	572	c.550C>A	c.(550-552)Cca>Aca	p.P184T		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	184	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GTGATGACTGGGGTAGGCACA	0.557																																																	0													135.0	111.0	119.0					9																	38414111		2203	4300	6503	SO:0001583	missense	0				CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"""Immunoglobulin superfamily / I-set domain containing"""	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.550C>A	9.37:g.38414111G>T	ENSP00000366923:p.Pro184Thr			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom	p.P184T	ENST00000377694.1	37	c.550	CCDS35017.1	9	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840758	0.71488	.	.	ENSG00000137142	ENST00000377694	T	0.73258	-0.73	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44285	U	0.000473	D	0.90075	0.6900	H	0.99299	4.505	0.39198	D	0.963092	D	0.69078	0.997	D	0.67900	0.954	D	0.94336	0.7566	10	0.87932	D	0	-2.2157	13.8611	0.63561	0.0:0.0:1.0:0.0	.	184	Q8WX77	IBPL1_HUMAN	T	184	ENSP00000366923:P184T	ENSP00000366923:P184T	P	-	1	0	IGFBPL1	38404111	1.000000	0.71417	0.958000	0.39756	0.938000	0.57974	4.417000	0.59822	2.339000	0.79563	0.563000	0.77884	CCA	IGFBPL1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom	ENSG00000137142		0.557	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFBPL1	HGNC	protein_coding	OTTHUMT00000052491.1	-	0.00	57	0	G	XM_294567		38414111	-1	tier1	-	no_errors	ENST00000377694	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.899	T
ITGB1BP1	9270	genome.wustl.edu	37	2	9552384	9552384	+	Intron	DEL	T	T	-			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:9552384delT	ENST00000360635.3	-	5	1185				ITGB1BP1_ENST00000456913.2_Intron|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000359712.3_Intron|ITGB1BP1_ENST00000355346.4_Intron			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1						activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AGTTACGGAATTTTTTTTTTT	0.488																																																	0									,	633,165,15,3421		44,4,3,538,3,0,155,0,12,1358	32.0	32.0	32.0		,	-3.1	0.0	2	dbSNP_132	32	3001,174,76,4991		413,14,53,2108,1,0,158,1,21,1352	no	intron,intron	ITGB1BP1	NM_022334.3,NM_004763.3	,	457,18,56,2646,4,0,313,1,33,2710	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		39.4443,19.2017,32.5745	,	,	9552384	3634,339,91,8412	2192	4296	6488	SO:0001627	intron_variant	0			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.288+13A>-	2.37:g.9552384delT			D6W4Y9|O14714|Q53RS0	Frame_Shift_Del	DEL	pfam_Integrin-bd_ICAP-1	p.N101fs	ENST00000360635.3	37	c.302	CCDS1662.1	2																																																																																			ITGB1BP1	-	NULL	ENSG00000119185		0.488	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ITGB1BP1	HGNC	protein_coding	OTTHUMT00000314623.2		0.00	13	0	T	NM_004763, NM_022334		9552384	-1	tier1		no_errors	ENST00000483795	ensembl	human	known	74_37	frame_shift_del	20.00	12	3	DEL	0.000	-
JAK1	3716	genome.wustl.edu	37	1	65349067	65349067	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:65349067T>A	ENST00000342505.4	-	3	346	c.98A>T	c.(97-99)gAg>gTg	p.E33V		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	33					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CACCCCTGGCTCAGGGGCCTC	0.537			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													99.0	97.0	98.0					1																	65349067		1893	4116	6009	SO:0001583	missense	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.98A>T	1.37:g.65349067T>A	ENSP00000343204:p.Glu33Val		Q59GQ2|Q9UD26	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom	p.E33V	ENST00000342505.4	37	c.98	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	T	8.131	0.783099	0.16189	.	.	ENSG00000162434	ENST00000342505	T	0.70516	-0.49	4.61	3.46	0.39613	Band 4.1 domain (1);	.	.	.	.	T	0.37839	0.1018	N	0.24115	0.695	0.23361	N	0.997831	B	0.19817	0.039	B	0.11329	0.006	T	0.37174	-0.9717	9	0.49607	T	0.09	.	11.7043	0.51590	0.0:0.0:0.1483:0.8517	.	33	P23458	JAK1_HUMAN	V	33	ENSP00000343204:E33V	ENSP00000343204:E33V	E	-	2	0	JAK1	65121655	0.991000	0.36638	0.369000	0.25952	0.110000	0.19582	2.960000	0.49161	0.892000	0.36259	0.533000	0.62120	GAG	JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,smart_Band_41_domain	ENSG00000162434		0.537	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	-	0.00	30	0	T	NM_002227		65349067	-1	tier1	-	no_errors	ENST00000342505	ensembl	human	known	74_37	missense	17.86	46	10	SNP	0.634	A
KIDINS220	57498	genome.wustl.edu	37	2	8919884	8919884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:8919884G>A	ENST00000256707.3	-	18	2471	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.Q764*|KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.Q765*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.Q764*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.Q722*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	764	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.Q764*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTGATTCTGAGTGAAGCTG	0.458																																																	1	Substitution - Nonsense(1)	lung(1)											115.0	109.0	111.0					2																	8919884		1952	4153	6105	SO:0001587	stop_gained	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2290C>T	2.37:g.8919884G>A	ENSP00000256707:p.Gln764*		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Nonsense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q764*	ENST00000256707.3	37	c.2290	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.623534	0.99221	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.5636	0.95384	0.0:0.0:1.0:0.0	.	.	.	.	X	511;448;764;764;722;764;765;765	.	ENSP00000256707:Q764X	Q	-	1	0	KIDINS220	8837335	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.751000	0.98889	2.681000	0.91329	0.655000	0.94253	CAG	KIDINS220	-	pfam_KAP_NTPase	ENSG00000134313		0.458	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	-	0.00	43	0	G	NM_020738		8919884	-1	tier1	-	no_errors	ENST00000256707	ensembl	human	known	74_37	nonsense	27.50	58	22	SNP	1.000	A
KANSL1L	151050	genome.wustl.edu	37	2	210993825	210993825	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:210993825G>T	ENST00000281772.9	-	3	1423	c.1160C>A	c.(1159-1161)gCt>gAt	p.A387D	KANSL1L_ENST00000418791.1_Missense_Mutation_p.A387D|KANSL1L_ENST00000452086.1_Missense_Mutation_p.A387D|KANSL1L_ENST00000457374.1_Missense_Mutation_p.A387D	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	387						histone acetyltransferase complex (GO:0000123)											TGAAATCTGAGCTTGAAGCCA	0.428																																																	0													190.0	168.0	175.0					2																	210993825		2203	4300	6503	SO:0001583	missense	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1160C>A	2.37:g.210993825G>T	ENSP00000281772:p.Ala387Asp		B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	NULL	p.A387D	ENST00000281772.9	37	c.1160	CCDS33370.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	25.0|25.0|25.0	4.591977|4.591977|4.591977	0.86953|0.86953|0.86953	.|.|.	.|.|.	ENSG00000144445|ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000438563;ENST00000415553|ENST00000428655	.|.|.	.|.|.	.|.|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	.|.|.	0.100789|.|.	0.42821|.|.	D|.|.	0.000642|.|.	T|T|T	0.76205|0.76205|0.76205	0.3955|0.3955|0.3955	M|M|M	0.70595|0.70595|0.70595	2.14|2.14|2.14	0.44432|0.44432|0.44432	D|D|D	0.99735|0.99735|0.99735	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.91635|.|.	0.966;0.999;0.998;0.998|.|.	T|T|T	0.74797|0.74797|0.74797	-0.3543|-0.3543|-0.3543	9|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.4324|19.4324|19.4324	0.94776|0.94776|0.94776	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	387;387;387;387|.|.	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.|.	.;.;.;CB067_HUMAN|.|.	D|I|R	387|61;106|81	.|.|.	ENSP00000281772:A387D|.|.	A|L|S	-|-|-	2|1|3	0|0|2	C2orf67|C2orf67|C2orf67	210702070|210702070|210702070	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	7.979000|7.979000|7.979000	0.88103|0.88103|0.88103	2.584000|2.584000|2.584000	0.87258|0.87258|0.87258	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCT|CTC|AGC	KANSL1L	-	NULL	ENSG00000144445		0.428	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1L	HGNC	protein_coding	OTTHUMT00000336633.3	-	0.00	83	0	G	NM_152519		210993825	-1	tier1	-	no_errors	ENST00000281772	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
KIF1A	547	genome.wustl.edu	37	2	241722519	241722519	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:241722519G>A	ENST00000320389.7	-	9	964	c.806C>T	c.(805-807)gCc>gTc	p.A269V	KIF1A_ENST00000498729.2_Missense_Mutation_p.A269V	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	269	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTTGATGTTGGCCCCCTCCTG	0.652																																																	0													92.0	106.0	101.0					2																	241722519		2000	4153	6153	SO:0001583	missense	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.806C>T	2.37:g.241722519G>A	ENSP00000322791:p.Ala269Val		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A269V	ENST00000320389.7	37	c.806	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	g	18.21	3.572462	0.65765	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.75821	-0.97;-0.97;-0.97	3.54	3.54	0.40534	Kinesin, motor domain (4);	0.066068	0.64402	U	0.000013	T	0.75302	0.3831	L	0.58925	1.835	0.80722	D	1	P;P;P	0.52692	0.955;0.916;0.926	P;B;B	0.47134	0.539;0.219;0.346	T	0.80788	-0.1226	10	0.87932	D	0	.	15.4947	0.75641	0.0:0.0:1.0:0.0	.	269;269;269	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	V	269	ENSP00000322791:A269V;ENSP00000438388:A269V;ENSP00000384231:A269V	ENSP00000322791:A269V	A	-	2	0	KIF1A	241371192	1.000000	0.71417	0.995000	0.50966	0.282000	0.26991	9.559000	0.98135	1.712000	0.51347	0.552000	0.68991	GCC	KIF1A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000130294		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	-	0.00	97	0	G	NM_138483		241722519	-1	tier1	-	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	30.21	67	29	SNP	1.000	A
KIF20B	9585	genome.wustl.edu	37	10	91478561	91478561	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr10:91478561A>G	ENST00000371728.3	+	12	1431	c.1366A>G	c.(1366-1368)Atc>Gtc	p.I456V	KIF20B_ENST00000260753.4_Missense_Mutation_p.I456V|KIF20B_ENST00000416354.1_Missense_Mutation_p.I456V|KIF20B_ENST00000394289.2_Missense_Mutation_p.I456V	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	456	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATTGTCAATATCAGCCAATG	0.318																																																	0													51.0	56.0	54.0					10																	91478561		2203	4298	6501	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1366A>G	10.37:g.91478561A>G	ENSP00000360793:p.Ile456Val		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I456V	ENST00000371728.3	37	c.1366		10	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678810	0.68042	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.62	4.49	0.54785	Kinesin, motor domain (3);	0.000000	0.53938	D	0.000044	T	0.70020	0.3176	N	0.20328	0.56	0.50313	D	0.99986	P;B	0.40476	0.718;0.124	P;B	0.54815	0.761;0.098	T	0.64558	-0.6379	10	0.21540	T	0.41	-4.4946	9.5577	0.39348	0.8584:0.0:0.1416:0.0	.	456;456	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	V	456	ENSP00000260753:I456V;ENSP00000411545:I456V;ENSP00000377830:I456V;ENSP00000360793:I456V	ENSP00000260753:I456V	I	+	1	0	KIF20B	91468541	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.930000	0.63462	1.073000	0.40885	0.533000	0.62120	ATC	KIF20B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000138182		0.318	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0.00	38	0	A	NM_016195		91478561	+1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	55.88	15	19	SNP	1.000	G
LARP1	23367	genome.wustl.edu	37	5	154181697	154181697	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:154181697T>C	ENST00000336314.4	+	11	1640	c.1616T>C	c.(1615-1617)aTg>aCg	p.M539T		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	616					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGGAGCAGATGGATGGGCGG	0.507																																																	0													169.0	154.0	159.0					5																	154181697		2203	4300	6503	SO:0001583	missense	0			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1616T>C	5.37:g.154181697T>C	ENSP00000336721:p.Met539Thr		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.M539T	ENST00000336314.4	37	c.1616	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622142	0.46840	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.30448	1.97;1.53;1.56	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	L	0.42245	1.32	0.80722	D	1	B;B	0.28880	0.226;0.104	B;B	0.26517	0.039;0.07	T	0.06356	-1.0831	10	0.13853	T	0.58	-21.2395	16.8061	0.85666	0.0:0.0:0.0:1.0	.	616;539	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	T	539;616;411	ENSP00000336721:M539T;ENSP00000428589:M616T;ENSP00000429904:M411T	ENSP00000336721:M539T	M	+	2	0	LARP1	154161890	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.228000	0.72288	2.367000	0.80283	0.528000	0.53228	ATG	LARP1	-	NULL	ENSG00000155506		0.507	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1		0.00	44	0	T	NM_033551		154181697	+1			no_errors	ENST00000336314	ensembl	human	known	74_37	missense	12.00	44	6	SNP	1.000	C
LEKR1	389170	genome.wustl.edu	37	3	156763371	156763371	+	Frame_Shift_Del	DEL	C	C	-	rs144318565		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:156763371delC	ENST00000470811.1	+	14	2334	c.999delC	c.(997-999)cgcfs	p.R333fs	LEKR1_ENST00000356539.4_Frame_Shift_Del_p.R637fs			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	333										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCAACCTGCGCGGGGTGTCAA	0.552																																																	0													79.0	87.0	84.0					3																	156763371		2203	4300	6503	SO:0001589	frameshift_variant	0			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.999delC	3.37:g.156763371delC	ENSP00000418214:p.Arg333fs			Frame_Shift_Del	DEL	superfamily_Ribosomal_L29	p.V639fs	ENST00000470811.1	37	c.1911		3																																																																																			LEKR1	-	NULL	ENSG00000197980		0.552	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3		0.00	35	0	C	NM_001004316		156763371	+1	tier1		no_errors	ENST00000356539	ensembl	human	known	74_37	frame_shift_del	35.29	22	12	DEL	0.000	-
PCBP3	54039	genome.wustl.edu	37	21	47250070	47250070	+	Intron	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr21:47250070C>T	ENST00000400314.1	+	3	213				AL592528.1_ENST00000380008.1_RNA			P57721	PCBP3_HUMAN	poly(rC) binding protein 3						mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GCCCTGCAACCCTAGACCAGT	0.592																																																	0																																										SO:0001627	intron_variant	0			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.-125-19805C>T	21.37:g.47250070C>T			A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	RNA	SNP	-	NULL	ENST00000400314.1	37	NULL	CCDS42974.2	21																																																																																			AL592528.1	-	-	ENSG00000205424		0.592	PCBP3-001	KNOWN	basic|CCDS	protein_coding	LOC100129027	Clone_based_vega_gene	protein_coding	OTTHUMT00000206808.2	-	0.00	28	0	C			47250070	-1	tier1	-	no_errors	ENST00000380008	ensembl	human	known	74_37	rna	24.00	19	6	SNP	0.012	T
LOC101927708	101927708	genome.wustl.edu	37	11	3602161	3602161	+	RNA	SNP	C	C	T	rs188013291		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:3602161C>T	ENST00000527970.1	-	0	280																											ACTTACTCCTCTGCCGTCGCC	0.741																																																	0																																												0																															11.37:g.3602161C>T				RNA	SNP	-	NULL	ENST00000527970.1	37	NULL		11																																																																																			RP13-726E6.2	-	-	ENSG00000255367		0.741	RP13-726E6.2-002	KNOWN	basic	processed_transcript	LOC101927708	Clone_based_vega_gene	processed_transcript	OTTHUMT00000392273.1	-	0.00	41	0	C			3602161	-1	tier1	rs188013291	no_errors	ENST00000527970	ensembl	human	known	74_37	rna	23.08	30	9	SNP	0.708	T
LY6G6F	259215	genome.wustl.edu	37	6	31675846	31675846	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:31675846G>T	ENST00000375832.4	+	3	603	c.581G>T	c.(580-582)aGc>aTc	p.S194I	XXbac-BPG32J3.20_ENST00000461287.1_Intron|MEGT1_ENST00000503322.1_Missense_Mutation_p.S194I|LY6G6F_ENST00000556581.1_Missense_Mutation_p.S194I	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GAGCCCAGGAGCCGAAGACCA	0.582																																																	0													121.0	134.0	130.0					6																	31675846		1508	2709	4217	SO:0001583	missense	0				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.581G>T	6.37:g.31675846G>T	ENSP00000364992:p.Ser194Ile		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S194I	ENST00000375832.4	37	c.581	CCDS34403.1	6	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043760	0.19748	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.19938	2.4;2.11;2.4	5.15	-0.718	0.11205	.	1.754730	0.02625	N	0.103640	T	0.04137	0.0115	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.003	T	0.35251	-0.9796	10	0.45353	T	0.12	-0.77	3.5875	0.07977	0.1024:0.4285:0.305:0.1641	.	194;194	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	I	194	ENSP00000452432:S194I;ENSP00000364992:S194I;ENSP00000421232:S194I	ENSP00000364992:S194I	S	+	2	0	XXbac-BPG32J3.19;LY6G6F	31783825	0.000000	0.05858	0.004000	0.12327	0.464000	0.32679	-0.212000	0.09319	0.131000	0.18576	0.591000	0.81541	AGC	LY6G6F	-	NULL	ENSG00000204424		0.582	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6F	HGNC	protein_coding	OTTHUMT00000076532.2		0.00	45	0	G	NM_001003693		31675846	+1			no_errors	ENST00000556581	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.000	T
LYST	1130	genome.wustl.edu	37	1	235972743	235972743	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:235972743C>G	ENST00000389794.3	-	5	1549	c.1375G>C	c.(1375-1377)Gat>Cat	p.D459H	LYST_ENST00000389793.2_Missense_Mutation_p.D459H|LYST_ENST00000536965.1_Missense_Mutation_p.D459H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	459					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)				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)			GGAACTCCATCTCTTAAAACC	0.378																																																	0													70.0	70.0	70.0					1																	235972743		2203	4300	6503	SO:0001583	missense	0			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.1375G>C	1.37:g.235972743C>G	ENSP00000374444:p.Asp459His		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D459H	ENST00000389794.3	37	c.1375	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796796	0.31777	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.72615	-0.67;-0.67;2.55	5.36	5.36	0.76844	.	0.203134	0.29342	U	0.012435	T	0.74928	0.3781	L	0.51422	1.61	0.24121	N	0.995806	D;D	0.61697	0.99;0.966	P;P	0.58210	0.835;0.651	T	0.66143	-0.5997	10	0.28530	T	0.3	.	12.9789	0.58552	0.0:0.9168:0.0:0.0831	.	459;459	Q99698-3;Q99698	.;LYST_HUMAN	H	459	ENSP00000374444:D459H;ENSP00000374443:D459H;ENSP00000438315:D459H	ENSP00000374443:D459H	D	-	1	0	LYST	234039366	0.797000	0.28877	0.610000	0.28997	0.549000	0.35272	1.303000	0.33470	2.774000	0.95407	0.655000	0.94253	GAT	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5		0.00	26	0	C			235972743	-1			no_errors	ENST00000389793	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.878	G
MAGEC3	139081	genome.wustl.edu	37	X	140983065	140983065	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:140983065C>T	ENST00000298296.1	+	5	920	c.920C>T	c.(919-921)gCc>gTc	p.A307V	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000448920.1_Missense_Mutation_p.A59V|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	307	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.		A -> T (in dbSNP:rs176024).							NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGGTCAGCCTTGGCAGGG	0.607																																																	0													91.0	89.0	90.0					X																	140983065		2203	4300	6503	SO:0001583	missense	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.920C>T	X.37:g.140983065C>T	ENSP00000298296:p.Ala307Val		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.A307V	ENST00000298296.1	37	c.920	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.806878	0.00606	.	.	ENSG00000165509	ENST00000298296;ENST00000448920	T;T	0.41400	4.0;1.0	1.02	-2.04	0.07343	.	.	.	.	.	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.12528	-1.0544	9	0.72032	D	0.01	.	0.3289	0.00315	0.1932:0.2623:0.1924:0.3521	.	307	Q8TD91	MAGC3_HUMAN	V	307;59	ENSP00000298296:A307V;ENSP00000395092:A59V	ENSP00000298296:A307V	A	+	2	0	MAGEC3	140810731	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.829000	0.04415	-3.354000	0.00180	-2.184000	0.00315	GCC	MAGEC3	-	NULL	ENSG00000165509		0.607	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0.00	25	0	C	NM_138702		140983065	+1	tier1	-	no_errors	ENST00000298296	ensembl	human	known	74_37	missense	72.22	5	13	SNP	0.000	T
MAGEC3	139081	genome.wustl.edu	37	X	140985273	140985273	+	Splice_Site	SNP	G	G	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:140985273G>C	ENST00000298296.1	+	7	1728		c.e7+1		MAGEC3_ENST00000544766.1_Missense_Mutation_p.V279L|MAGEC3_ENST00000409007.1_Missense_Mutation_p.V279L|MAGEC3_ENST00000443323.2_Missense_Mutation_p.V199L|MAGEC3_ENST00000536088.1_Missense_Mutation_p.V279L	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAATAGGGGTGTGTGCTGG	0.507																																																	0													97.0	94.0	95.0					X																	140985273		2203	4300	6503	SO:0001630	splice_region_variant	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1728+1G>C	X.37:g.140985273G>C			Q3SYA7|Q5JZ43|Q9BZ80	Splice_Site	SNP	-	e7+1	ENST00000298296.1	37	c.1728+1	CCDS14676.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|g	3.398|3.398	-0.122885|-0.122885	0.06795|0.06795	.|.	.|.	ENSG00000165509|ENSG00000165509	ENST00000298296|ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	.|T;T;T;T	.|0.03663	.|3.85;3.85;3.85;3.85	1.25|1.25	1.25|1.25	0.21368|0.21368	.|.	.|.	.|.	.|.	.|.	.|T	.|0.07773	.|0.0195	L|L	0.50847|0.50847	1.595|1.595	0.09310|0.09310	N|N	1|1	.|P	.|0.45240	.|0.854	.|P	.|0.54499	.|0.754	.|T	.|0.28586	.|-1.0039	.|8	.|.	.|.	.|.	.|.	5.4273|5.4273	0.16433|0.16433	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|279	.|Q3SYA7	.|.	.|L	-1|279;199;279;279	.|ENSP00000441107:V279L;ENSP00000438254:V199L;ENSP00000440444:V279L;ENSP00000386566:V279L	.|.	.|V	+|+	.|1	.|0	MAGEC3|MAGEC3	140812939|140812939	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.070000|0.070000	0.16714|0.16714	0.049000|0.049000	0.14099|0.14099	0.898000|0.898000	0.36418|0.36418	0.284000|0.284000	0.19432|0.19432	.|GTG	MAGEC3	-	-	ENSG00000165509		0.507	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0.00	27	0	G	NM_138702	Intron	140985273	+1	tier1	-	no_errors	ENST00000298296	ensembl	human	known	74_37	splice_site	64.29	10	18	SNP	0.027	C
MAP4K5	11183	genome.wustl.edu	37	14	50930823	50930823	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr14:50930823T>C	ENST00000013125.4	-	12	1084	c.766A>G	c.(766-768)Ata>Gta	p.I256V		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GTTAGTGCTATTTTGACAAAA	0.308																																																	0													132.0	110.0	116.0					14																	50930823		1774	4010	5784	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.766A>G	14.37:g.50930823T>C	ENSP00000013125:p.Ile256Val		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.I256V	ENST00000013125.4	37	c.766		14	.	.	.	.	.	.	.	.	.	.	T	2.463	-0.323763	0.05350	.	.	ENSG00000012983	ENST00000013125	T	0.64618	-0.11	5.42	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111889	0.64402	D	0.000003	T	0.31827	0.0809	N	0.04746	-0.17	0.34536	D	0.709758	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34875	-0.9811	10	0.02654	T	1	.	6.9413	0.24494	0.0:0.2462:0.0:0.7538	.	256;256	B2R928;Q9Y4K4	.;M4K5_HUMAN	V	256	ENSP00000013125:I256V	ENSP00000013125:I256V	I	-	1	0	MAP4K5	50000573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.276000	0.33156	1.002000	0.39104	0.533000	0.62120	ATA	MAP4K5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000012983		0.308	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	-	0.00	33	0	T	NM_006575		50930823	-1	tier1	-	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	C
MDC1	9656	genome.wustl.edu	37	6	30680031	30680031	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:30680031A>T	ENST00000376406.3	-	5	2335	c.1688T>A	c.(1687-1689)cTt>cAt	p.L563H	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.L563H|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	563	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGATACCACAAGCAGCTTTGC	0.512								Other conserved DNA damage response genes																																									0													69.0	66.0	67.0					6																	30680031		1509	2708	4217	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1688T>A	6.37:g.30680031A>T	ENSP00000365588:p.Leu563His		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.L563H	ENST00000376406.3	37	c.1688	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	A	8.926	0.962177	0.18583	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02682	4.27;4.2	3.9	2.07	0.26955	.	.	.	.	.	T	0.01254	0.0041	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.52316	0.924;0.924;0.952;0.924	P;P;B;P	0.50192	0.534;0.534;0.43;0.634	T	0.49688	-0.8913	9	0.62326	D	0.03	-0.7135	5.4702	0.16666	0.2721:0.0:0.7279:0.0	.	563;435;563;563	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	H	563;563;563;435	ENSP00000365588:L563H;ENSP00000365587:L563H	ENSP00000365587:L563H	L	-	2	0	MDC1	30788010	0.968000	0.33430	0.349000	0.25694	0.084000	0.17831	1.810000	0.38932	0.305000	0.22832	-0.464000	0.05259	CTT	MDC1	-	NULL	ENSG00000137337		0.512	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0.00	23	0	A	NM_014641		30680031	-1	tier1	-	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	59.09	18	26	SNP	0.190	T
WDR78	79819	genome.wustl.edu	37	1	67390754	67390754	+	5'Flank	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:67390754G>A	ENST00000371026.3	-	0	0				WDR78_ENST00000371023.3_5'Flank|WDR78_ENST00000431318.1_5'Flank|MIER1_ENST00000355977.6_5'UTR|MIER1_ENST00000371018.3_5'UTR|MIER1_ENST00000371014.1_Missense_Mutation_p.G15S|WDR78_ENST00000371022.3_5'Flank|MIER1_ENST00000401041.1_Missense_Mutation_p.G15S|MIER1_ENST00000371016.1_5'UTR|MIER1_ENST00000371012.2_5'UTR|MIER1_ENST00000357692.2_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						cagcgaaggtggcggcggcag	0.682																																																	0													9.0	37.0	29.0					1																	67390754		638	1488	2126	SO:0001631	upstream_gene_variant	0			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165		1.37:g.67390754G>A	Exception_encountered		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.G15S	ENST00000371026.3	37	c.43	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012237	0.75046	.	.	ENSG00000198160	ENST00000401041;ENST00000371014	T;T	0.27402	1.78;1.67	3.88	3.88	0.44766	.	1.710450	0.03471	N	0.213720	T	0.27349	0.0671	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.934;0.986	T	0.31888	-0.9927	10	0.87932	D	0	-27.2339	11.6408	0.51230	0.0:0.0:1.0:0.0	.	15;15	Q5TAD5;Q5TAD4	.;.	S	15	ENSP00000383820:G15S;ENSP00000360053:G15S	ENSP00000360053:G15S	G	+	1	0	MIER1	67163342	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.215000	0.42862	2.466000	0.83321	0.561000	0.74099	GGC	MIER1	-	NULL	ENSG00000198160		0.682	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025404.1		0.00	12	0	G	NM_024763		67390754	+1			no_errors	ENST00000401041	ensembl	human	known	74_37	missense	33.33	4	2	SNP	1.000	A
MKNK2	2872	genome.wustl.edu	37	19	2046658	2046658	+	Silent	SNP	T	T	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:2046658T>A	ENST00000591601.1	-	2	119	c.84A>T	c.(82-84)ctA>ctT	p.L28L	MKNK2_ENST00000309340.7_Silent_p.L28L|MKNK2_ENST00000541165.1_5'UTR|MKNK2_ENST00000250896.3_Silent_p.L28L			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	28					cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		CGGGCTGGTCTAGGGAGAAGG	0.682																																																	0													25.0	19.0	21.0					19																	2046658		2174	4274	6448	SO:0001819	synonymous_variant	0			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.84A>T	19.37:g.2046658T>A			Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L28	ENST00000591601.1	37	c.84	CCDS12080.1	19																																																																																			MKNK2	-	NULL	ENSG00000099875		0.682	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	-	0.00	64	0	T	NM_199054		2046658	-1	tier1	-	no_errors	ENST00000250896	ensembl	human	known	74_37	silent	10.94	57	7	SNP	0.997	A
MRGPRF	116535	genome.wustl.edu	37	11	68773599	68773599	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:68773599A>T	ENST00000309099.6	-	3	561	c.179T>A	c.(178-180)gTg>gAg	p.V60E	MRGPRF_ENST00000441623.1_Missense_Mutation_p.V60E|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	60						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCCGTTGCCCACCAGGCCACA	0.612																																																	0													38.0	47.0	44.0					11																	68773599		2200	4294	6494	SO:0001583	missense	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.179T>A	11.37:g.68773599A>T	ENSP00000309782:p.Val60Glu		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V60E	ENST00000309099.6	37	c.179	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596150	0.66332	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.41065	1.01;1.01	4.97	3.84	0.44239	.	0.000000	0.40469	N	0.001089	T	0.28167	0.0695	N	0.24115	0.695	0.28622	N	0.908095	P	0.42827	0.791	B	0.40565	0.333	T	0.14587	-1.0467	10	0.72032	D	0.01	-33.4916	7.5725	0.27915	0.9019:0.0:0.0981:0.0	.	60	Q96AM1	MRGRF_HUMAN	E	60	ENSP00000403660:V60E;ENSP00000309782:V60E	ENSP00000309782:V60E	V	-	2	0	MRGPRF	68530175	0.005000	0.15991	1.000000	0.80357	0.998000	0.95712	0.865000	0.27940	0.741000	0.32674	0.459000	0.35465	GTG	MRGPRF	-	prints_GPCR_Rhodpsn	ENSG00000172935		0.612	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	-	0.00	53	0	A	NM_145015		68773599	-1	tier1	-	no_errors	ENST00000309099	ensembl	human	known	74_37	missense	6.83	150	11	SNP	0.994	T
MROH2B	133558	genome.wustl.edu	37	5	41000790	41000790	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:41000790T>G	ENST00000399564.4	-	38	4790	c.4340A>C	c.(4339-4341)aAg>aCg	p.K1447T	MROH2B_ENST00000506092.2_Missense_Mutation_p.K1002T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1447																	AACTCCAATCTTGGGGTTGGG	0.493																																																	0													63.0	66.0	65.0					5																	41000790		1897	4118	6015	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4340A>C	5.37:g.41000790T>G	ENSP00000382476:p.Lys1447Thr		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K1447T	ENST00000399564.4	37	c.4340	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291402	0.40494	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65732	-0.17;-0.17	5.66	3.25	0.37280	Armadillo-like helical (1);Armadillo-type fold (1);	0.481862	0.20277	N	0.095523	T	0.50990	0.1648	L	0.34521	1.04	0.29323	N	0.867203	D	0.56287	0.975	P	0.48400	0.576	T	0.43621	-0.9380	10	0.14252	T	0.57	.	7.5981	0.28061	0.0:0.1691:0.0:0.8309	.	1447	Q7Z745	HTRB2_HUMAN	T	1002;1152;1447	ENSP00000441504:K1002T;ENSP00000382476:K1447T	ENSP00000296803:K1152T	K	-	2	0	HEATR7B2	41036547	0.992000	0.36948	1.000000	0.80357	0.989000	0.77384	1.708000	0.37899	0.505000	0.28104	0.533000	0.62120	AAG	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.493	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0.00	21	0	T	NM_173489		41000790	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	G
RPL3L	6123	genome.wustl.edu	37	16	1993105	1993105	+	IGR	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:1993105G>T	ENST00000268661.7	-	0	2182				MSRB1_ENST00000361871.3_Missense_Mutation_p.P18H|MSRB1_ENST00000564908.1_Missense_Mutation_p.P18H|MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000399753.2_Missense_Mutation_p.P18H	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						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)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGACCAACCAGGTTCAAAGTG	0.682																																																	0													11.0	14.0	13.0					16																	1993105		1869	4045	5914	SO:0001628	intergenic_variant	0			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1993105G>T				Missense_Mutation	SNP	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like	p.P18H	ENST00000268661.7	37	c.53	CCDS10450.1	16	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300627	0.60195	.	.	ENSG00000198736	ENST00000361871;ENST00000399753	T;T	0.76316	-1.01;-1.01	3.9	3.9	0.45041	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.135359	0.50627	D	0.000109	D	0.82765	0.5108	L	0.59967	1.855	0.47547	D	0.999453	P	0.48911	0.917	P	0.56823	0.807	D	0.84593	0.0668	10	0.56958	D	0.05	1.2715	14.617	0.68556	0.0:0.0:1.0:0.0	.	18	Q9NZV6	MSRB1_HUMAN	H	18	ENSP00000355084:P18H;ENSP00000382657:P18H	ENSP00000355084:P18H	P	-	2	0	SEPX1	1933106	1.000000	0.71417	0.416000	0.26546	0.054000	0.15201	6.284000	0.72652	2.007000	0.58848	0.297000	0.19635	CCT	MSRB1	-	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like	ENSG00000198736		0.682	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRB1	HGNC	protein_coding	OTTHUMT00000250582.2		0.00	27	0	G	NM_005061		1993105	-1			no_errors	ENST00000399753	ensembl	human	putative	74_37	missense	12.00	22	3	SNP	0.999	T
MT-CO2	4513	genome.wustl.edu	37	M	8090	8090	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrM:8090G>A	ENST00000361739.1	+	1	505	c.505G>A	c.(505-507)Ggc>Agc	p.G169S	MT-ND3_ENST00000361227.2_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	169					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TCCCCACATTAGGCTTAAAAA	0.468																																																	0																																										SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.505G>A	M.37:g.8090G>A	ENSP00000354876:p.Gly169Ser		Q37526	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.G169S	ENST00000361739.1	37	c.505		MT																																																																																			MT-CO2	-	pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	ENSG00000198712		0.468	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	HGNC	protein_coding		-	0.00	22	0	G	YP_003024029		8090	+1	tier1	-	no_errors	ENST00000361739	ensembl	human	known	74_37	missense	47.83	12	11	SNP	NULL	A
MUC4	4585	genome.wustl.edu	37	3	195513768	195513768	+	Silent	SNP	T	T	C	rs376555437		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:195513768T>C	ENST00000463781.3	-	2	5142	c.4683A>G	c.(4681-4683)gtA>gtG	p.V1561V	MUC4_ENST00000475231.1_Silent_p.V1561V|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCTGTGGATACTGAGGAAG	0.577																																																	0													19.0	14.0	16.0					3																	195513768		688	1575	2263	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4683A>G	3.37:g.195513768T>C			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.V1561	ENST00000463781.3	37	c.4683	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	-	0.00	346	0	T	NM_018406		195513768	-1	tier1	-	no_errors	ENST00000463781	ensembl	human	known	74_37	silent	9.21	434	44	SNP	0.039	C
MXRA5	25878	genome.wustl.edu	37	X	3228543	3228543	+	Silent	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:3228543C>T	ENST00000217939.6	-	7	7855	c.7701G>A	c.(7699-7701)gcG>gcA	p.A2567A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2567	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCGGGGTCCCCGCGGCAGAGC	0.632																																																	0																																										SO:0001819	synonymous_variant	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7701G>A	X.37:g.3228543C>T			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A2567	ENST00000217939.6	37	c.7701	CCDS14124.1	X																																																																																			MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000101825		0.632	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2		0.00	22	0	C	NM_015419		3228543	-1			no_errors	ENST00000217939	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.000	T
NCEH1	57552	genome.wustl.edu	37	3	172351286	172351286	+	Silent	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:172351286C>T	ENST00000475381.1	-	5	1439	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	NCEH1_ENST00000538775.1_Silent_p.K442K|NCEH1_ENST00000543711.1_Silent_p.K269K|NCEH1_ENST00000273512.3_Silent_p.K434K			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	402					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GATCTAGCCACTTGATGTAAC	0.468																																																	0													100.0	101.0	101.0					3																	172351286		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.1206G>A	3.37:g.172351286C>T			B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.K442	ENST00000475381.1	37	c.1326		3																																																																																			NCEH1	-	pirsf_Arylacetamide_deacetylase	ENSG00000144959		0.468	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	HGNC	protein_coding	OTTHUMT00000346367.3	-	0.00	147	0	C	NM_020792		172351286	-1	tier1	-	no_errors	ENST00000538775	ensembl	human	known	74_37	silent	24.87	142	47	SNP	1.000	T
NECAB1	64168	genome.wustl.edu	37	8	91962044	91962044	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:91962044A>G	ENST00000417640.2	+	11	1207	c.870A>G	c.(868-870)atA>atG	p.I290M	NECAB1_ENST00000522820.1_Missense_Mutation_p.I39M|NECAB1_ENST00000521366.1_Missense_Mutation_p.I39M	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	290	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GTATTTCTATACAGAAGCTTT	0.323																																																	0													122.0	107.0	112.0					8																	91962044		1805	4084	5889	SO:0001583	missense	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.870A>G	8.37:g.91962044A>G	ENSP00000387380:p.Ile290Met		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.I290M	ENST00000417640.2	37	c.870	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	A	18.30	3.592943	0.66219	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.30448	1.53;1.53;1.53	5.72	-2.31	0.06765	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.113761	0.64402	D	0.000012	T	0.25975	0.0633	L	0.34521	1.04	0.39410	D	0.966745	P	0.49696	0.927	P	0.49637	0.617	T	0.09058	-1.0692	10	0.62326	D	0.03	-19.5501	8.9201	0.35605	0.2004:0.0:0.0768:0.7228	.	290	Q8N987	NECA1_HUMAN	M	290;39;39	ENSP00000387380:I290M;ENSP00000428953:I39M;ENSP00000428632:I39M	ENSP00000387380:I290M	I	+	3	3	NECAB1	92031220	0.998000	0.40836	0.991000	0.47740	0.969000	0.65631	0.467000	0.22035	-0.184000	0.10567	-0.336000	0.08194	ATA	NECAB1	-	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel	ENSG00000123119		0.323	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	-	0.00	74	0	A	NM_022351		91962044	+1	tier1	-	no_errors	ENST00000417640	ensembl	human	known	74_37	missense	41.94	35	26	SNP	0.976	G
NID1	4811	genome.wustl.edu	37	1	236187381	236187381	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:236187381C>T	ENST00000264187.6	-	9	2199	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	NID1_ENST00000366595.3_Missense_Mutation_p.R706Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	706	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	ATAGCAGGTTCGCCCGTCTCC	0.587																																																	0													61.0	57.0	58.0					1																	236187381		2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2117G>A	1.37:g.236187381C>T	ENSP00000264187:p.Arg706Gln		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R706Q	ENST00000264187.6	37	c.2117	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914437	0.72983	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.90261	-2.64;-2.22	5.55	-3.1	0.05315	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.543919	0.20758	N	0.086216	T	0.80829	0.4698	L	0.35414	1.06	0.09310	N	1	B;B	0.25850	0.068;0.136	B;B	0.19148	0.005;0.024	T	0.67473	-0.5662	10	0.40728	T	0.16	.	8.4878	0.33082	0.0962:0.4413:0.0:0.4625	.	706;706	P14543-2;P14543	.;NID1_HUMAN	Q	706	ENSP00000264187:R706Q;ENSP00000355554:R706Q	ENSP00000264187:R706Q	R	-	2	0	NID1	234254004	0.000000	0.05858	0.000000	0.03702	0.965000	0.64279	-0.084000	0.11268	-0.505000	0.06568	0.655000	0.94253	CGA	NID1	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000116962		0.587	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	-	0.00	27	0	C	NM_002508		236187381	-1	tier1	-	no_errors	ENST00000264187	ensembl	human	known	74_37	missense	47.62	22	20	SNP	0.000	T
NR1I2	8856	genome.wustl.edu	37	3	119533916	119533916	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:119533916G>T	ENST00000337940.4	+	6	1050	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	NR1I2_ENST00000466380.1_Missense_Mutation_p.E258D|NR1I2_ENST00000393716.2_Missense_Mutation_p.E295D	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	295	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	TCAATGCGGAGACTGGAACCT	0.597																																																	0													68.0	58.0	62.0					3																	119533916		2203	4300	6503	SO:0001583	missense	0			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1002G>T	3.37:g.119533916G>T	ENSP00000336528:p.Glu334Asp		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.E334D	ENST00000337940.4	37	c.1002	CCDS2995.1	3	.	.	.	.	.	.	.	.	.	.	G	8.735	0.917580	0.17982	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.95001	-3.58;-3.58;-3.58	4.31	2.47	0.30058	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.244029	0.40728	N	0.001031	D	0.88551	0.6467	N	0.25286	0.73	0.34127	D	0.664766	B;P;B	0.42993	0.062;0.797;0.009	B;B;B	0.43990	0.02;0.438;0.023	D	0.86372	0.1724	10	0.19590	T	0.45	.	8.1152	0.30940	0.2065:0.0:0.7935:0.0	.	295;334;281	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	D	295;258;334	ENSP00000377319:E295D;ENSP00000420297:E258D;ENSP00000336528:E334D	ENSP00000336528:E334D	E	+	3	2	NR1I2	121016606	1.000000	0.71417	0.986000	0.45419	0.295000	0.27426	1.857000	0.39399	0.546000	0.28920	0.655000	0.94253	GAG	NR1I2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000144852		0.597	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	-	0.00	70	0	G			119533916	+1	tier1	-	no_errors	ENST00000337940	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
NRP2	8828	genome.wustl.edu	37	2	206628610	206628610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:206628610G>T	ENST00000357785.5	+	13	2288	c.2257G>T	c.(2257-2259)Gag>Tag	p.E753*	NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000360409.3_Nonsense_Mutation_p.E753*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.E753*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.E753*|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000540841.1_Nonsense_Mutation_p.E753*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.E753*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.E753*|AC007362.3_ENST00000423425.1_RNA|AC007362.3_ENST00000598710.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCAGGGCGGCGAGTGGAAGCA	0.612											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53.0	56.0	55.0					2																	206628610		2203	4300	6503	SO:0001587	stop_gained	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2257G>T	2.37:g.206628610G>T	ENSP00000350432:p.Glu753*	2161	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.E753*	ENST00000357785.5	37	c.2257	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	G	47	13.300452	0.99733	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	5.87	3.93	0.45458	.	0.496147	0.25060	N	0.033450	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-25.8388	15.9452	0.79787	0.0:0.2551:0.7449:0.0	.	.	.	.	X	753	.	ENSP00000272849:E753X	E	+	1	0	NRP2	206336855	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.538000	0.53597	1.447000	0.47661	0.655000	0.94253	GAG	NRP2	-	pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000118257		0.612	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	-	0.00	45	0	G			206628610	+1	tier1	-	no_errors	ENST00000360409	ensembl	human	known	74_37	nonsense	19.51	33	8	SNP	0.975	T
NSD1	64324	genome.wustl.edu	37	5	176683973	176683973	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:176683973G>T	ENST00000439151.2	+	13	4832	c.4787G>T	c.(4786-4788)tGt>tTt	p.C1596F	NSD1_ENST00000354179.4_Missense_Mutation_p.C1327F|NSD1_ENST00000347982.4_Missense_Mutation_p.C1327F|NSD1_ENST00000361032.4_Missense_Mutation_p.C1493F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1596					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGTTTTGTATGTAAGCAGAGT	0.388			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													120.0	111.0	114.0					5																	176683973		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4787G>T	5.37:g.176683973G>T	ENSP00000395929:p.Cys1596Phe		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.C1596F	ENST00000439151.2	37	c.4787	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638448	0.87760	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58	5.33	5.33	0.75918	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.99115	0.9695	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99349	1.0914	10	0.87932	D	0	.	19.3848	0.94553	0.0:0.0:1.0:0.0	.	1327;1493;1596	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	F	1327;1596;1327;1493	ENSP00000346111:C1327F;ENSP00000395929:C1596F;ENSP00000343209:C1327F;ENSP00000354310:C1493F	ENSP00000343209:C1327F	C	+	2	0	NSD1	176616579	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.809000	0.99208	2.649000	0.89929	0.650000	0.86243	TGT	NSD1	-	smart_Znf_PHD	ENSG00000165671		0.388	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0.00	55	0	G	NM_172349		176683973	+1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	missense	52.24	32	35	SNP	1.000	T
NYAP2	57624	genome.wustl.edu	37	2	226447051	226447051	+	Silent	SNP	C	C	T	rs533815234		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:226447051C>T	ENST00000272907.6	+	4	1331	c.918C>T	c.(916-918)ttC>ttT	p.F306F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	306					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACTTGGACTTCGCCAAGGCCT	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14073	0.0		0.0	False		,,,				2504	0.0																0													65.0	69.0	68.0					2																	226447051		2079	4198	6277	SO:0001819	synonymous_variant	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	ENST00000272907.6:c.918C>T	2.37:g.226447051C>T			A2RRN4|Q96NL2	Silent	SNP	NULL	p.F306	ENST00000272907.6	37	c.918	CCDS46529.1	2																																																																																			NYAP2	-	NULL	ENSG00000144460		0.587	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	-	0.00	12	0	C	NM_020864		226447051	+1	tier1	-	no_errors	ENST00000272907	ensembl	human	known	74_37	silent	26.92	19	7	SNP	1.000	T
OCIAD1	54940	genome.wustl.edu	37	4	48859371	48859372	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:48859371_48859372insA	ENST00000381473.3	+	8	1107_1108	c.689_690insA	c.(688-693)ccaaaafs	p.PK230fs	OCIAD1_ENST00000508293.1_Frame_Shift_Ins_p.PK230fs|OCIAD1_ENST00000513391.2_Frame_Shift_Ins_p.PK230fs|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000396448.2_Intron|OCIAD1_ENST00000509122.1_Frame_Shift_Ins_p.PK203fs|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000264312.7_Frame_Shift_Ins_p.PK230fs|OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000444354.2_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	230						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GAAAGAGTGCCAAAAAAAGAAG	0.302																																																	0																																										SO:0001589	frameshift_variant	0			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.696dupA	4.37:g.48859378_48859378dupA	ENSP00000370882:p.Pro230fs		C9K030|G8JLN7|Q9BZE8	Frame_Shift_Ins	INS	pfam_OCIA	p.E233fs	ENST00000381473.3	37	c.689_690	CCDS3484.1	4																																																																																			OCIAD1	-	NULL	ENSG00000109180		0.302	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3		0.00	54	0	-	NM_017830		48859372	+1	tier1		no_errors	ENST00000264312	ensembl	human	known	74_37	frame_shift_ins	45.45	24	20	INS	1.000:0.300	A
OR6K6	128371	genome.wustl.edu	37	1	158725436	158725437	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:158725436_158725437insT	ENST00000368144.2	+	1	927_928	c.831_832insT	c.(832-834)tttfs	p.F278fs		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGTTCTTGCTATTTTTTGGCAG	0.455																																																	0																																										SO:0001589	frameshift_variant	0			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.837dupT	1.37:g.158725442_158725442dupT	ENSP00000357126:p.Phe278fs		B9EIM8|Q5VUU9|Q6IFR4	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G279fs	ENST00000368144.2	37	c.831_832	CCDS30904.1	1																																																																																			OR6K6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180433		0.455	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2		0.00	85	0	-	NM_001005184		158725437	+1	tier1		no_errors	ENST00000368144	ensembl	human	known	74_37	frame_shift_ins	18.52	88	20	INS	0.009:0.920	T
OR8H1	219469	genome.wustl.edu	37	11	56058416	56058416	+	Silent	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:56058416G>T	ENST00000313022.2	-	1	150	c.123C>A	c.(121-123)ggC>ggA	p.G41G		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TCCCCACATTGCCCAGCATAG	0.428																																																	0													195.0	183.0	187.0					11																	56058416		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.123C>A	11.37:g.56058416G>T			B2RNI7|Q6IFC5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G41	ENST00000313022.2	37	c.123	CCDS31526.1	11																																																																																			OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181693		0.428	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	-	0.00	60	0	G	NM_001005199		56058416	-1	tier1	-	no_errors	ENST00000313022	ensembl	human	known	74_37	silent	20.00	44	11	SNP	0.086	T
OVGP1	5016	genome.wustl.edu	37	1	111968031	111968031	+	Silent	SNP	G	G	A	rs373255062		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:111968031G>A	ENST00000369732.3	-	4	346	c.291C>T	c.(289-291)atC>atT	p.I97I	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Silent_p.I37I	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	97					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCCACCCGCCGATGGACAGTA	0.532																																																	0								G		0,4406		0,0,2203	131.0	104.0	113.0		291	-8.7	0.4	1		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OVGP1	NM_002557.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		97/679	111968031	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.291C>T	1.37:g.111968031G>A			A0AV19|B9EGE1|Q15841	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.I97	ENST00000369732.3	37	c.291	CCDS834.1	1																																																																																			OVGP1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000085465		0.532	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	-	0.00	101	0	G	NM_002557		111968031	-1	tier1	-	no_errors	ENST00000369732	ensembl	human	known	74_37	silent	31.07	71	32	SNP	0.978	A
PCDH18	54510	genome.wustl.edu	37	4	138452077	138452077	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:138452077G>T	ENST00000344876.4	-	1	1552	c.1166C>A	c.(1165-1167)tCt>tAt	p.S389Y	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.S169Y|PCDH18_ENST00000412923.2_Missense_Mutation_p.S389Y	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATTCAGCCCAGAATCCTTGTC	0.353																																																	0													79.0	84.0	83.0					4																	138452077		2203	4300	6503	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1166C>A	4.37:g.138452077G>T	ENSP00000355082:p.Ser389Tyr		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S389Y	ENST00000344876.4	37	c.1166	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303695	0.81136	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.53640	0.61;0.61;0.61	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.000000	0.42548	D	0.000693	T	0.74465	0.3720	M	0.86097	2.795	0.80722	D	1	D;D;D	0.67145	0.996;0.964;0.996	D;P;D	0.76071	0.987;0.792;0.964	T	0.76358	-0.2988	10	0.72032	D	0.01	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	169;389;389	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	Y	389;389;169	ENSP00000355082:S389Y;ENSP00000390688:S389Y;ENSP00000425903:S169Y	ENSP00000355082:S389Y	S	-	2	0	PCDH18	138671527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.885000	0.87282	2.868000	0.98415	0.557000	0.71058	TCT	PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000189184		0.353	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1		0.00	36	0	G	NM_019035		138452077	-1			no_errors	ENST00000344876	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T
PCDHB16	57717	genome.wustl.edu	37	5	140562523	140562523	+	Missense_Mutation	SNP	C	C	T	rs536825329		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:140562523C>T	ENST00000361016.2	+	1	1544	c.389C>T	c.(388-390)tCt>tTt	p.S130F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACCATTCTCCCATGTTC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		19705	0.0		0.001	False		,,,				2504	0.0																0													44.0	46.0	45.0					5																	140562523		2203	4300	6503	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.389C>T	5.37:g.140562523C>T	ENSP00000354293:p.Ser130Phe		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S130F	ENST00000361016.2	37	c.389	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825388	0.71143	.	.	ENSG00000196963	ENST00000361016	T	0.20881	2.04	4.69	3.82	0.43975	Cadherin (2);Cadherin conserved site (1);Cadherin-like (1);	0.249318	0.21201	N	0.078471	T	0.51975	0.1706	M	0.91972	3.26	0.36938	D	0.892259	P	0.38800	0.648	P	0.58077	0.832	T	0.62671	-0.6805	10	0.52906	T	0.07	.	12.6842	0.56938	0.0:0.9193:0.0:0.0807	.	130	Q9NRJ7	PCDBG_HUMAN	F	130	ENSP00000354293:S130F	ENSP00000354293:S130F	S	+	2	0	PCDHB16	140542707	0.105000	0.21958	0.635000	0.29338	0.664000	0.39144	3.876000	0.56115	0.959000	0.37980	0.655000	0.94253	TCT	PCDHB16	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196963		0.408	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1		0.00	22	0	C	NM_020957		140562523	+1			no_errors	ENST00000361016	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.984	T
PDCD6IP	10015	genome.wustl.edu	37	3	33870378	33870378	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:33870378A>G	ENST00000307296.3	+	7	1128	c.751A>G	c.(751-753)Atc>Gtc	p.I251V	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I256V			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	251	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AAAGCACTGTATCATGCAGGC	0.463																																																	0													120.0	114.0	116.0					3																	33870378		2203	4300	6503	SO:0001583	missense	0			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.751A>G	3.37:g.33870378A>G	ENSP00000307387:p.Ile251Val		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.I256V	ENST00000307296.3	37	c.766	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	A	8.787	0.929701	0.18131	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.17213	2.29;2.29	5.2	4.02	0.46733	BRO1 domain (3);	0.094659	0.64402	D	0.000001	T	0.13927	0.0337	L	0.35854	1.095	0.58432	D	0.999996	B;B;B	0.19073	0.033;0.001;0.003	B;B;B	0.13407	0.009;0.009;0.009	T	0.04900	-1.0919	10	0.39692	T	0.17	-9.9029	11.5393	0.50657	0.926:0.0:0.0739:0.0	.	32;256;251	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	V	251;256	ENSP00000307387:I251V;ENSP00000411825:I256V	ENSP00000307387:I251V	I	+	1	0	PDCD6IP	33845382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.212000	0.65225	2.091000	0.63221	0.533000	0.62120	ATC	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000170248		0.463	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	-	0.00	46	0	A			33870378	+1	tier1	-	no_errors	ENST00000457054	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	G
PDS5A	23244	genome.wustl.edu	37	4	39915248	39915248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:39915248C>T	ENST00000303538.8	-	9	1514	c.975G>A	c.(973-975)tgG>tgA	p.W325*	PDS5A_ENST00000503396.1_Nonsense_Mutation_p.W325*	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GAAAACATTGCCAAAGAGGAC	0.368																																																	0													99.0	95.0	96.0					4																	39915248		1844	4089	5933	SO:0001587	stop_gained	0			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.975G>A	4.37:g.39915248C>T	ENSP00000303427:p.Trp325*			Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.W325*	ENST00000303538.8	37	c.975	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	44	10.818303	0.99472	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.8973	19.1535	0.93499	0.0:1.0:0.0:0.0	.	.	.	.	X	325	.	.	W	-	3	0	PDS5A	39591643	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.528000	0.85240	0.585000	0.79938	TGG	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.368	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	-	0.00	29	0	C	NM_015200		39915248	-1	tier1	-	no_errors	ENST00000303538	ensembl	human	known	74_37	nonsense	26.09	17	6	SNP	1.000	T
PIGC	5279	genome.wustl.edu	37	1	172411232	172411232	+	Silent	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:172411232T>C	ENST00000367728.1	-	1	1994	c.531A>G	c.(529-531)ctA>ctG	p.L177L	PIGC_ENST00000258324.1_Silent_p.L177L|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Silent_p.L177L|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	177					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TGTTCAAGGATAGTGTGCTGG	0.468																																																	0													107.0	85.0	92.0					1																	172411232		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.531A>G	1.37:g.172411232T>C			O14491	Silent	SNP	pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2	p.L177	ENST00000367728.1	37	c.531	CCDS1302.1	1																																																																																			PIGC	-	pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2	ENSG00000135845		0.468	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGC	HGNC	protein_coding	OTTHUMT00000084068.1	-	0.00	31	0	T	NM_153747		172411232	-1	tier1	-	no_errors	ENST00000258324	ensembl	human	known	74_37	silent	34.29	23	12	SNP	0.997	C
PPP1R17	10842	genome.wustl.edu	37	7	31732094	31732094	+	Silent	SNP	A	A	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:31732094A>T	ENST00000342032.3	+	2	667	c.39A>T	c.(37-39)tcA>tcT	p.S13S	PPP1R17_ENST00000409146.3_Silent_p.S13S	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	13					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										TGGAACTCTCAGAAGACAGAC	0.453																																																	0													116.0	101.0	106.0					7																	31732094		2203	4300	6503	SO:0001819	synonymous_variant	0			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.39A>T	7.37:g.31732094A>T			B4DE58|Q9UDQ0	Silent	SNP	NULL	p.S13	ENST00000342032.3	37	c.39	CCDS5436.1	7																																																																																			PPP1R17	-	NULL	ENSG00000106341		0.453	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R17	HGNC	protein_coding	OTTHUMT00000250498.1	-	0.00	81	0	A	NM_006658		31732094	+1	tier1	-	no_errors	ENST00000342032	ensembl	human	known	74_37	silent	30.00	70	30	SNP	0.997	T
PRDX6	9588	genome.wustl.edu	37	1	173454551	173454551	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:173454551A>G	ENST00000340385.5	+	3	436	c.304A>G	c.(304-306)Atc>Gtc	p.I102V	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	102	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ACCTTTTCCCATCATCGATGA	0.468																																																	0													145.0	136.0	139.0					1																	173454551		2203	4300	6503	SO:0001583	missense	0			D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.304A>G	1.37:g.173454551A>G	ENSP00000342026:p.Ile102Val		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.I102V	ENST00000340385.5	37	c.304	CCDS1307.1	1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214742	0.79352	.	.	ENSG00000117592	ENST00000340385	T	0.27557	1.66	5.27	5.27	0.74061	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	M	0.76433	2.335	0.80722	D	1	B	0.29766	0.256	B	0.43478	0.421	T	0.36625	-0.9740	10	0.72032	D	0.01	-24.7114	14.4572	0.67425	1.0:0.0:0.0:0.0	.	102	P30041	PRDX6_HUMAN	V	102	ENSP00000342026:I102V	ENSP00000342026:I102V	I	+	1	0	PRDX6	171721174	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.789000	0.91839	2.112000	0.64535	0.528000	0.53228	ATC	PRDX6	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000117592		0.468	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX6	HGNC	protein_coding	OTTHUMT00000084222.1	-	0.00	75	0	A	NM_004905		173454551	+1	tier1	-	no_errors	ENST00000340385	ensembl	human	known	74_37	missense	40.51	47	32	SNP	1.000	G
PSMA1	5682	genome.wustl.edu	37	11	14526711	14526711	+	3'UTR	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:14526711T>C	ENST00000396394.2	-	0	1215				PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_3'UTR|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000418988.2_3'UTR|PSMA1_ENST00000530457.1_3'UTR	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ACATATTTGATAATACATATA	0.373																																																	0													157.0	164.0	162.0					11																	14526711		2200	4294	6494	SO:0001624	3_prime_UTR_variant	0			X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.*27A>G	11.37:g.14526711T>C			A8K400|Q53YE8|Q9BRV9	RNA	SNP	-	NULL	ENST00000396394.2	37	NULL	CCDS7816.1	11																																																																																			PSMA1	-	-	ENSG00000129084		0.373	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA1	HGNC	protein_coding	OTTHUMT00000386421.3	-	0.00	29	0	T	NM_002786		14526711	-1	tier1	-	no_errors	ENST00000524606	ensembl	human	putative	74_37	rna	55.00	18	22	SNP	0.000	C
PTK2	5747	genome.wustl.edu	37	8	141754888	141754888	+	Intron	DEL	G	G	-	rs369326396|rs79761757|rs374855180|rs372806706		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:141754888delG	ENST00000522684.1	-	19	1748				PTK2_ENST00000517887.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519465.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000520151.1_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATGACCAAAAGAAAAAAAAAA	0.308																																																	0													33.0	33.0	33.0					8																	141754888		2203	4300	6503	SO:0001627	intron_variant	0			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1519-22C>-	8.37:g.141754888delG			B4E2N6|F5H4S4|Q14291|Q9UD85	RNA	DEL	-	NULL	ENST00000522684.1	37	NULL	CCDS6381.1	8																																																																																			PTK2	-	-	ENSG00000169398		0.308	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5		0.00	21	0	G	NM_005607		141754888	-1	tier1		no_errors	ENST00000518509	ensembl	human	known	74_37	rna	10.00	18	2	DEL	0.000	-
PTPN14	5784	genome.wustl.edu	37	1	214542917	214542918	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:214542917_214542918insA	ENST00000366956.5	-	17	3347_3348	c.3153_3154insT	c.(3151-3156)tatgcafs	p.A1052fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1052	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCCGTGGTTGCATAGCAAACAG	0.5																																					Colon(92;557 1424 24372 34121 40073)												0																																										SO:0001589	frameshift_variant	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3154dupT	1.37:g.214542918_214542918dupA	ENSP00000355923:p.Ala1052fs		Q5VSI0	Frame_Shift_Ins	INS	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.A1051fs	ENST00000366956.5	37	c.3154_3153	CCDS1514.1	1																																																																																			PTPN14	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000152104		0.500	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2		0.00	73	0	-	NM_005401		214542918	-1	tier1		no_errors	ENST00000366956	ensembl	human	known	74_37	frame_shift_ins	19.75	65	16	INS	1.000:1.000	A
PXMP2	5827	genome.wustl.edu	37	12	133277913	133277913	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:133277913G>T	ENST00000317479.3	+	4	542	c.477G>T	c.(475-477)tgG>tgT	p.W159C	PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000545677.1_Missense_Mutation_p.D31Y|PXMP2_ENST00000428960.2_Missense_Mutation_p.W66C|PXMP2_ENST00000539093.1_Missense_Mutation_p.D31Y|RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.D31Y	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	159						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GGCGGGTGTGGACGCCACTAC	0.592																																																	0													55.0	55.0	55.0					12																	133277913		2203	4300	6503	SO:0001583	missense	0				CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.477G>T	12.37:g.133277913G>T	ENSP00000321271:p.Trp159Cys			Missense_Mutation	SNP	pfam_Mpv17_PMP22	p.W159C	ENST00000317479.3	37	c.477	CCDS9279.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.48|11.48	1.651108|1.651108	0.29336|0.29336	.|.	.|.	ENSG00000176894;ENSG00000176894;ENSG00000256632|ENSG00000176894	ENST00000545677;ENST00000539093;ENST00000537262|ENST00000317479;ENST00000428960	.|D;D	.|0.94650	.|-3.48;-3.48	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98298|0.98298	0.9436|0.9436	H|H	0.97291|0.97291	3.975|3.975	0.40291|0.40291	D|D	0.978506|0.978506	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	D|D	0.99897|0.99897	1.1149|1.1149	6|10	0.87932|0.87932	D|D	0|0	.|.	16.681|16.681	0.85291|0.85291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|159	.|Q9NR77	.|PXMP2_HUMAN	Y|C	31|159;66	.|ENSP00000321271:W159C;ENSP00000398708:W66C	ENSP00000444486:D31Y|ENSP00000321271:W159C	D|W	+|+	1|3	0|0	RP13-672B3.2;PXMP2|PXMP2	131787986|131787986	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.216000|0.216000	0.24613|0.24613	7.991000|7.991000	0.88244|0.88244	2.613000|2.613000	0.88420|0.88420	0.603000|0.603000	0.83216|0.83216	GAC|TGG	PXMP2	-	pfam_Mpv17_PMP22	ENSG00000176894		0.592	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP2	HGNC	protein_coding	OTTHUMT00000397553.1	-	0.00	51	0	G	NM_018663		133277913	+1	tier1	-	no_errors	ENST00000317479	ensembl	human	known	74_37	missense	21.54	51	14	SNP	1.000	T
RAB13	5872	genome.wustl.edu	37	1	153955990	153955990	+	Intron	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:153955990T>C	ENST00000368575.3	-	3	362				RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGACCCACACTTCATACCATG	0.473																																					Ovarian(138;395 2427 24306 43415)												0													103.0	94.0	97.0					1																	153955990		2203	4300	6503	SO:0001627	intron_variant	0			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.246+6A>G	1.37:g.153955990T>C			A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	RNA	SNP	-	NULL	ENST00000368575.3	37	NULL	CCDS1058.1	1																																																																																			RAB13	-	-	ENSG00000143545		0.473	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	-	0.00	85	0	T	NM_002870		153955990	-1	tier1	-	no_errors	ENST00000462680	ensembl	human	known	74_37	rna	19.51	66	16	SNP	0.000	C
RALGAPA1	253959	genome.wustl.edu	37	14	36211602	36211603	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr14:36211602_36211603insA	ENST00000389698.3	-	11	1810_1811	c.1420_1421insT	c.(1420-1422)tcafs	p.S474fs	RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.S474fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Ins_p.S474fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.S474fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	474					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCTTCCATTGAAATATCATGG	0.337																																																	0																																										SO:0001589	frameshift_variant	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1421dupT	14.37:g.36211605_36211605dupA	ENSP00000374348:p.Ser474fs		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Ins	INS	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.S474fs	ENST00000389698.3	37	c.1421_1420	CCDS32065.1	14																																																																																			RALGAPA1	-	NULL	ENSG00000174373		0.337	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1		0.00	21	0	-	XM_210022		36211603	-1	tier1		no_errors	ENST00000258840	ensembl	human	known	74_37	frame_shift_ins	19.23	21	5	INS	0.091:0.077	A
RANBP2	5903	genome.wustl.edu	37	2	109347782	109347782	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:109347782C>T	ENST00000283195.6	+	4	383	c.257C>T	c.(256-258)tCa>tTa	p.S86L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	86					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TATTAGCGTTCAGTGGAATTA	0.274																																																	0													36.0	38.0	38.0					2																	109347782		2195	4276	6471	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.257C>T	2.37:g.109347782C>T	ENSP00000283195:p.Ser86Leu		Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	NULL	p.Q49*	ENST00000283195.6	37	c.145	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059158	0.76074	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.63913	-0.07	4.97	4.97	0.65823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.74642	0.3743	L	0.47716	1.5	0.54753	D	0.999987	D	0.76494	0.999	D	0.72982	0.979	T	0.77368	-0.2614	9	0.87932	D	0	-15.2292	18.5845	0.91183	0.0:1.0:0.0:0.0	.	86	P49792	RBP2_HUMAN	L	86	ENSP00000283195:S86L	ENSP00000283195:S86L	S	+	2	0	RANBP2	108714214	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.201000	0.77847	2.477000	0.83638	0.573000	0.79308	TCA	RANBP2	-	NULL	ENSG00000153201		0.274	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	-	0.00	191	0	C	NM_006267		109347782	+1	tier1	-	no_errors	ENST00000425282	ensembl	human	known	74_37	nonsense	14.90	217	38	SNP	1.000	T
RBM33	155435	genome.wustl.edu	37	7	155532574	155532576	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	CAC	CAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr7:155532574_155532576delCAC	ENST00000401878.3	+	12	2101_2103	c.1903_1905delCAC	c.(1903-1905)cacdel	p.H641del		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	641	His-rich.|Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		gcagcaccagcaccaccaccaCC	0.714																																																	0										2,136,3674		0,0,2,12,112,1780						-0.4	0.4			17	8,243,7015		0,0,8,19,205,3401	no	codingComplex	RBM33	NM_053043.2		0,0,10,31,317,5181	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4544,3.6201,3.5115				10,379,10689				SO:0001651	inframe_deletion	0			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1903_1905delCAC	7.37:g.155532583_155532585delCAC	ENSP00000384160:p.His641del		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	In_Frame_Del	DEL	smart_RRM_dom	p.H638in_frame_del	ENST00000401878.3	37	c.1903_1905	CCDS5941.2	7																																																																																			RBM33	-	NULL	ENSG00000184863		0.714	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3		0.00	11	0	CAC	NM_001008408		155532576	+1			no_errors	ENST00000401878	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.994:0.987:0.985	0
RC3H2	54542	genome.wustl.edu	37	9	125639797	125639797	+	Silent	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr9:125639797T>C	ENST00000373670.1	-	8	1878	c.1278A>G	c.(1276-1278)ccA>ccG	p.P426P	RC3H2_ENST00000357244.2_Silent_p.P426P|RC3H2_ENST00000423239.2_Silent_p.P426P|RC3H2_ENST00000373665.2_Silent_p.P426P|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000335387.5_Silent_p.P426P			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	426					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTGTTCCTCGTGGACAACCCC	0.408																																																	0													290.0	283.0	285.0					9																	125639797		1892	4109	6001	SO:0001819	synonymous_variant	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1278A>G	9.37:g.125639797T>C			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.P426	ENST00000373670.1	37	c.1278	CCDS43874.1	9																																																																																			RC3H2	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000056586		0.408	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0.00	28	0	T	NM_018835		125639797	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	silent	46.30	28	25	SNP	0.962	C
RNF5	6048	genome.wustl.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:32147865C>T	ENST00000375094.3	+	5	565	c.407C>T	c.(406-408)aCc>aTc	p.T136I	RNF5_ENST00000427134.2_Missense_Mutation_p.T136I|AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557																																																	3	Substitution - Missense(3)	lung(3)											151.0	153.0	152.0					6																	32147865		1511	2709	4220	SO:0001583	missense	0			U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.407C>T	6.37:g.32147865C>T	ENSP00000364235:p.Thr136Ile		A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T136I	ENST00000375094.3	37	c.407	CCDS4745.1	6	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403896	0.83230	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93604	-3.25;-3.25	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	L	0.47716	1.5	0.58432	D	0.999999	B	0.33345	0.409	B	0.27715	0.082	D	0.86266	0.1658	10	0.37606	T	0.19	-2.0092	16.9524	0.86249	0.0:1.0:0.0:0.0	.	136	Q99942	RNF5_HUMAN	I	136	ENSP00000364235:T136I;ENSP00000407656:T136I	ENSP00000364235:T136I	T	+	2	0	RNF5	32255843	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.897000	0.75671	2.666000	0.90696	0.655000	0.94253	ACC	RNF5	-	NULL	ENSG00000204308		0.557	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF5	HGNC	protein_coding	OTTHUMT00000076133.2		0.00	13	0	C	NM_006913		32147865	+1			no_errors	ENST00000427134	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
ROCK1	6093	genome.wustl.edu	37	18	18559913	18559913	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:18559913T>G	ENST00000399799.2	-	22	3552	c.2612A>C	c.(2611-2613)aAc>aCc	p.N871T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	871	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATTTTCTCTGTTTTTTTCTTC	0.299																																																	0													73.0	70.0	71.0					18																	18559913		2183	4286	6469	SO:0001583	missense	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2612A>C	18.37:g.18559913T>G	ENSP00000382697:p.Asn871Thr		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.N871T	ENST00000399799.2	37	c.2612	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	T	2.853	-0.237958	0.05944	.	.	ENSG00000067900	ENST00000399799	T	0.13420	2.59	5.29	2.88	0.33553	.	0.050746	0.85682	D	0.000000	T	0.05686	0.0149	N	0.12887	0.27	0.47994	D	0.999564	B	0.02656	0.0	B	0.04013	0.001	T	0.31861	-0.9928	10	0.08837	T	0.75	.	5.6448	0.17584	0.0:0.1398:0.1441:0.7162	.	871	Q13464	ROCK1_HUMAN	T	871	ENSP00000382697:N871T	ENSP00000382697:N871T	N	-	2	0	ROCK1	16813911	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.714000	0.47202	0.421000	0.25980	0.460000	0.39030	AAC	ROCK1	-	pirsf_Rho-assoc_coiled-coil_kin	ENSG00000067900		0.299	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	-	0.00	51	0	T	NM_005406		18559913	-1	tier1	-	no_errors	ENST00000399799	ensembl	human	known	74_37	missense	26.87	49	18	SNP	1.000	G
RTL1	388015	genome.wustl.edu	37	14	101348319	101348319	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr14:101348319C>T	ENST00000534062.1	-	1	2865	c.2807G>A	c.(2806-2808)cGc>cAc	p.R936H	MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR431_ENST00000385266.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	936					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.R936H(2)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCCAGGTAGCGGCACCACAC	0.532																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											61.0	60.0	60.0					14																	101348319		1568	3582	5150	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2807G>A	14.37:g.101348319C>T	ENSP00000435342:p.Arg936His		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.R936H	ENST00000534062.1	37	c.2807	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125088	0.37533	.	.	ENSG00000254656	ENST00000534062	T	0.39406	1.08	3.39	3.39	0.38822	.	0.233121	0.22485	N	0.059444	T	0.15522	0.0374	N	0.17082	0.46	0.29017	N	0.886531	P	0.39181	0.663	B	0.26310	0.068	T	0.22243	-1.0222	10	0.02654	T	1	.	6.746	0.23462	0.0:0.8747:0.0:0.1253	.	936	E9PKS8	.	H	936	ENSP00000435342:R936H	ENSP00000435342:R936H	R	-	2	0	RTL1	100418072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.300000	0.51834	2.210000	0.71456	0.555000	0.69702	CGC	RTL1	-	NULL	ENSG00000254656		0.532	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1		0.00	39	0	C	NM_001134888		101348319	-1			no_errors	ENST00000534062	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T
RYR1	6261	genome.wustl.edu	37	19	39075726	39075726	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:39075726G>T	ENST00000359596.3	+	102	14790	c.14790G>T	c.(14788-14790)ttG>ttT	p.L4930F	RYR1_ENST00000355481.4_Missense_Mutation_p.L4925F|RYR1_ENST00000360985.3_Missense_Mutation_p.L4925F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4930					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCATCCTGTTGGCCATCATCC	0.602																																																	0													194.0	134.0	154.0					19																	39075726		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14790G>T	19.37:g.39075726G>T	ENSP00000352608:p.Leu4930Phe		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L4930F	ENST00000359596.3	37	c.14790	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176080	0.38413	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98849	-5.18;-5.18;-5.18	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.52532	U	0.000077	D	0.99321	0.9762	M	0.91196	3.185	0.52099	D	0.999947	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98994	1.0809	10	0.87932	D	0	.	18.3248	0.90250	0.0:0.0:1.0:0.0	.	4925;4930	P21817-2;P21817	.;RYR1_HUMAN	F	4930;4925;4925	ENSP00000352608:L4930F;ENSP00000347667:L4925F;ENSP00000354254:L4925F	ENSP00000347667:L4925F	L	+	3	2	RYR1	43767566	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.206000	0.32321	2.658000	0.90341	0.449000	0.29647	TTG	RYR1	-	pfam_Ion_trans_dom	ENSG00000196218		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1		0.00	46	0	G			39075726	+1			no_errors	ENST00000359596	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T
SCLT1	132320	genome.wustl.edu	37	4	129809878	129809878	+	Missense_Mutation	SNP	G	G	T	rs531031008		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:129809878G>T	ENST00000281142.5	-	20	2463	c.1960C>A	c.(1960-1962)Cgt>Agt	p.R654S	SCLT1_ENST00000434680.1_Missense_Mutation_p.R273S|SCLT1_ENST00000503215.1_Missense_Mutation_p.R250S|SCLT1_ENST00000439369.2_Missense_Mutation_p.R141S|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	654					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGACTTAGACGCCTTTGAAGT	0.388																																																	0													148.0	137.0	141.0					4																	129809878		2203	4300	6503	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1960C>A	4.37:g.129809878G>T	ENSP00000281142:p.Arg654Ser		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.R654S	ENST00000281142.5	37	c.1960	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118778	0.56505	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215	T;T;T	0.58797	0.31;3.02;3.02	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	L	0.29908	0.895	0.41536	D	0.988483	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.85130	0.997;0.997;0.997;0.992	T	0.62558	-0.6829	9	.	.	.	-7.9101	14.9642	0.71179	0.0:0.0:1.0:0.0	.	141;273;654;250	Q96NL6-3;Q96NL6-2;Q96NL6;D6RBP0	.;.;SCLT1_HUMAN;.	S	654;273;141;250	ENSP00000281142:R654S;ENSP00000401539:R273S;ENSP00000424029:R250S	.	R	-	1	0	SCLT1	130029328	0.996000	0.38824	0.994000	0.49952	0.958000	0.62258	3.555000	0.53727	2.491000	0.84063	0.557000	0.71058	CGT	SCLT1	-	NULL	ENSG00000151466		0.388	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2		0.00	38	0	G	NM_144643		129809878	-1			no_errors	ENST00000281142	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.997	T
SDCCAG3	10807	genome.wustl.edu	37	9	139303480	139303480	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr9:139303480G>A	ENST00000357365.3	-	3	389	c.260C>T	c.(259-261)cCg>cTg	p.P87L	PMPCA_ENST00000371720.1_5'Flank|SDCCAG3_ENST00000298537.7_Intron|PMPCA_ENST00000371717.3_5'Flank|PMPCA_ENST00000399219.3_5'Flank|SDCCAG3_ENST00000371725.3_Intron	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	87						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GGCTCCTGACGGGCTCTGCTT	0.493																																																	0													132.0	138.0	136.0					9																	139303480		1918	4136	6054	SO:0001583	missense	0			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.260C>T	9.37:g.139303480G>A	ENSP00000349929:p.Pro87Leu		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.P87L	ENST00000357365.3	37	c.260	CCDS43904.1	9	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544452	0.45280	.	.	ENSG00000165689	ENST00000357365;ENST00000371723	T;T	0.30714	2.36;1.52	3.86	2.02	0.26589	.	0.931233	0.08991	N	0.864442	T	0.34019	0.0883	L	0.57536	1.79	0.28339	N	0.921416	P	0.52463	0.953	P	0.46585	0.521	T	0.26326	-1.0106	10	0.72032	D	0.01	-9.3449	6.2968	0.21091	0.2111:0.0:0.7889:0.0	.	87	Q96C92	SDCG3_HUMAN	L	87;37	ENSP00000349929:P87L;ENSP00000360788:P37L	ENSP00000349929:P87L	P	-	2	0	SDCCAG3	138423301	0.051000	0.20477	0.142000	0.22268	0.660000	0.38997	0.882000	0.28186	0.588000	0.29660	0.655000	0.94253	CCG	SDCCAG3	-	NULL	ENSG00000165689		0.493	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	-	0.00	37	0	G	NM_006643		139303480	-1	tier1	-	no_errors	ENST00000357365	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.202	A
SEL1L2	80343	genome.wustl.edu	37	20	13829998	13829998	+	IGR	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr20:13829998T>C	ENST00000284951.5	-	0	2224				SEL1L2_ENST00000486903.1_5'Flank			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCCCCAAGTCTTGTCTGTTTC	0.483																																																	0																																										SO:0001628	intergenic_variant	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910		20.37:g.13829998T>C			B4DXX5	RNA	SNP	-	NULL	ENST00000284951.5	37	NULL		20																																																																																			SEL1L2	-	-	ENSG00000101251		0.483	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	-	0.00	30	0	T	NM_025229		13829998	-1	tier1	-	no_errors	ENST00000482196	ensembl	human	known	74_37	rna	13.95	37	6	SNP	0.009	C
SENP7	57337	genome.wustl.edu	37	3	101085489	101085489	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:101085489A>G	ENST00000394095.2	-	9	1156	c.1103T>C	c.(1102-1104)cTa>cCa	p.L368P	SENP7_ENST00000314261.7_Missense_Mutation_p.L302P|SENP7_ENST00000394094.2_Missense_Mutation_p.L303P|SENP7_ENST00000394091.1_Missense_Mutation_p.L204P|SENP7_ENST00000348610.3_Missense_Mutation_p.L335P|SENP7_ENST00000358203.3_Missense_Mutation_p.L204P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	368						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGTGAGGATAGTTTAGTAAA	0.383																																																	0													110.0	109.0	109.0					3																	101085489		2203	4300	6503	SO:0001583	missense	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1103T>C	3.37:g.101085489A>G	ENSP00000377655:p.Leu368Pro		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L368P	ENST00000394095.2	37	c.1103	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	A	0.042	-1.281737	0.01398	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18174	2.23;2.24;2.24;2.23;2.23;2.23	5.77	-0.508	0.11980	.	1.376850	0.04616	N	0.401116	T	0.14270	0.0345	L	0.31664	0.95	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.09377	0.003;0.0;0.004;0.002	T	0.37549	-0.9701	10	0.28530	T	0.3	5.1307	10.9517	0.47334	0.4847:0.0:0.5153:0.0	.	204;302;335;368	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	P	368;303;302;204;204;335	ENSP00000377655:L368P;ENSP00000377654:L303P;ENSP00000313624:L302P;ENSP00000377651:L204P;ENSP00000350936:L204P;ENSP00000342159:L335P	ENSP00000313624:L302P	L	-	2	0	SENP7	102568179	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.185000	0.09684	-0.665000	0.05317	-2.096000	0.00365	CTA	SENP7	-	NULL	ENSG00000138468		0.383	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	-	0.00	67	0	A	NM_020654		101085489	-1	tier1	-	no_errors	ENST00000394095	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.000	G
SIAH1	6477	genome.wustl.edu	37	16	48396037	48396037	+	Silent	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:48396037C>T	ENST00000380006.2	-	1	1756	c.303G>A	c.(301-303)gcG>gcA	p.A101A	SIAH1_ENST00000394725.2_Silent_p.A101A|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000356721.3_Silent_p.A132A			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	101	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATCCAGAAGACGCATATTTAC	0.483																																																	0													78.0	65.0	70.0					16																	48396037		2200	4300	6500	SO:0001819	synonymous_variant	0			U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.303G>A	16.37:g.48396037C>T			A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH	p.A132	ENST00000380006.2	37	c.396	CCDS10735.1	16																																																																																			SIAH1	-	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_SIAH	ENSG00000196470		0.483	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	SIAH1	HGNC	protein_coding	OTTHUMT00000256842.12	-	0.00	59	0	C			48396037	-1	tier1	-	no_errors	ENST00000356721	ensembl	human	known	74_37	silent	24.10	63	20	SNP	1.000	T
SIGLEC5	8778	genome.wustl.edu	37	19	52133162	52133162	+	Silent	SNP	G	G	A	rs559592597	byFrequency	TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:52133162G>A	ENST00000534261.2	-	3	744	c.345C>T	c.(343-345)agC>agT	p.S115S	SIGLEC5_ENST00000429354.3_Silent_p.S115S|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000570106.2_Silent_p.S115S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	115	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGAAGAAATAGCTTCCCGTGT	0.542													G|||	33	0.00658946	0.0	0.0216	5008	,	,		17751	0.0169		0.0	False		,,,				2504	0.001																0													44.0	38.0	40.0					19																	52133162		2073	4030	6103	SO:0001819	synonymous_variant	0			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.345C>T	19.37:g.52133162G>A				Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S115	ENST00000534261.2	37	c.345	CCDS33088.1	19																																																																																			SIGLEC5	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105501		0.542	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	-	0.00	19	0	G	NM_003830		52133162	-1	tier1	-	no_errors	ENST00000570106	ensembl	human	known	74_37	silent	46.15	7	6	SNP	0.046	A
SKIV2L2	23517	genome.wustl.edu	37	5	54637600	54637600	+	Splice_Site	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:54637600G>T	ENST00000230640.5	+	7	1035		c.e7+1		SKIV2L2_ENST00000545714.1_Splice_Site	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)						maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGAGATTCAGGTATATTCAGT	0.313																																					Melanoma(2;92 134 23744 29976 33782)												0													85.0	88.0	87.0					5																	54637600		2202	4294	6496	SO:0001630	splice_region_variant	0			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.781+1G>T	5.37:g.54637600G>T			Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Splice_Site	SNP	-	e7+1	ENST00000230640.5	37	c.781+1	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782317	0.90282	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5885	0.91200	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKIV2L2	54673357	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.931000	0.87625	2.678000	0.91216	0.655000	0.94253	.	SKIV2L2	-	-	ENSG00000039123		0.313	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	-	0.00	63	0	G		Intron	54637600	+1	tier1	-	no_errors	ENST00000230640	ensembl	human	known	74_37	splice_site	5.88	64	4	SNP	1.000	T
SLC12A3	6559	genome.wustl.edu	37	16	56924229	56924229	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:56924229C>T	ENST00000563236.1	+	19	2354	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	SLC12A3_ENST00000566786.1_Missense_Mutation_p.R776W|SLC12A3_ENST00000438926.2_Missense_Mutation_p.R777W|SLC12A3_ENST00000262502.5_Missense_Mutation_p.R776W			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	777					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CATGAGGATGCGGGAGGGACT	0.517																																																	0													189.0	132.0	151.0					16																	56924229		2198	4300	6498	SO:0001583	missense	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2329C>T	16.37:g.56924229C>T	ENSP00000456149:p.Arg777Trp		A8MSJ2|C9JNN9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R777W	ENST00000563236.1	37	c.2329	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	C	16.63	3.178084	0.57692	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.63	4.62	0.57501	.	0.167944	0.50627	D	0.000113	T	0.68375	0.2994	L	0.58101	1.795	0.45867	D	0.998725	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.61275	0.827;0.772;0.886	T	0.70981	-0.4724	9	0.72032	D	0.01	.	13.1326	0.59391	0.2761:0.7239:0.0:0.0	.	776;777;777	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	W	776;777	.	ENSP00000262502:R777W	R	+	1	2	SLC12A3	55481730	1.000000	0.71417	0.998000	0.56505	0.271000	0.26615	3.005000	0.49521	2.644000	0.89710	0.655000	0.94253	CGG	SLC12A3	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000070915		0.517	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	-	0.00	126	0	C			56924229	+1	tier1	-	no_errors	ENST00000438926	ensembl	human	known	74_37	missense	38.89	66	42	SNP	0.980	T
SLC18A2	6571	genome.wustl.edu	37	10	119027194	119027195	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr10:119027194_119027195insA	ENST00000298472.5	+	13	1276_1277	c.1133_1134insA	c.(1132-1137)gcaaaafs	p.AK378fs	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	378				A -> P (in Ref. 1; AAA59877). {ECO:0000305}.	aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ATTCCATTTGCAAAAAACATTT	0.366																																																	0																																										SO:0001589	frameshift_variant	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1139dupA	10.37:g.119027200_119027200dupA	ENSP00000298472:p.Ala378fs		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Frame_Shift_Ins	INS	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.N380fs	ENST00000298472.5	37	c.1133_1134	CCDS7599.1	10																																																																																			SLC18A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.366	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1		0.00	56	0	-	NM_003054		119027195	+1	tier1		no_errors	ENST00000298472	ensembl	human	known	74_37	frame_shift_ins	28.57	40	16	INS	1.000:0.993	A
SLC2A4RG	56731	genome.wustl.edu	37	20	62374233	62374233	+	Splice_Site	SNP	A	A	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr20:62374233A>T	ENST00000266077.2	+	8	1106	c.1054A>T	c.(1054-1056)Aag>Tag	p.K352*	SLC2A4RG_ENST00000493772.1_3'UTR|RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCGCACAGGAAGCCCCGCGG	0.682																																																	0													22.0	28.0	26.0					20																	62374233		2196	4295	6491	SO:0001630	splice_region_variant	0			AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.1053-1A>T	20.37:g.62374233A>T			Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K352*	ENST00000266077.2	37	c.1054	CCDS13537.1	20	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243727	0.79912	.	.	ENSG00000125520	ENST00000266077	.	.	.	4.17	4.17	0.49024	.	0.000000	0.51477	U	0.000087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-46.2955	12.0424	0.53460	1.0:0.0:0.0:0.0	.	.	.	.	X	352	.	ENSP00000266077:K352X	K	+	1	0	SLC2A4RG	61844677	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	3.671000	0.54576	1.525000	0.49052	0.260000	0.18958	AAG	SLC2A4RG	-	NULL	ENSG00000125520		0.682	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A4RG	HGNC	protein_coding	OTTHUMT00000080202.1	-	0.00	27	0	A	NM_020062	Nonsense_Mutation	62374233	+1	tier1	-	no_errors	ENST00000266077	ensembl	human	known	74_37	nonsense	18.60	35	8	SNP	1.000	T
SLC35E4	339665	genome.wustl.edu	37	22	31042745	31042745	+	Silent	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr22:31042745C>T	ENST00000343605.4	+	2	1579	c.780C>T	c.(778-780)ctC>ctT	p.L260L	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	260	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCATCCTGCTCAGCTGCCTCC	0.672																																																	0													58.0	42.0	47.0					22																	31042745		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.780C>T	22.37:g.31042745C>T			Q567P0	Silent	SNP	pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA	p.L260	ENST00000343605.4	37	c.780	CCDS13882.1	22																																																																																			SLC35E4	-	pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA	ENSG00000100036		0.672	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E4	HGNC	protein_coding	OTTHUMT00000321382.1	-	0.00	71	0	C	XM_290973		31042745	+1	tier1	-	no_errors	ENST00000343605	ensembl	human	known	74_37	silent	28.12	46	18	SNP	1.000	T
SLC44A5	204962	genome.wustl.edu	37	1	75684355	75684355	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:75684355T>A	ENST00000370855.5	-	17	1462	c.1349A>T	c.(1348-1350)cAt>cTt	p.H450L	SLC44A5_ENST00000535611.1_Missense_Mutation_p.H320L|SLC44A5_ENST00000370859.3_Missense_Mutation_p.H450L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	450					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATGTACTGATGGTACAAGCT	0.418																																																	0													93.0	88.0	90.0					1																	75684355		2203	4300	6503	SO:0001583	missense	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1349A>T	1.37:g.75684355T>A	ENSP00000359892:p.His450Leu		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.H450L	ENST00000370855.5	37	c.1349	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326050	0.81580	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.21932	1.98;1.98;1.98	5.6	5.6	0.85130	.	0.302030	0.40469	N	0.001091	T	0.22475	0.0542	L	0.55481	1.735	0.80722	D	1	P;B;P;B;B	0.37731	0.607;0.407;0.607;0.354;0.033	P;P;P;P;B	0.48770	0.589;0.589;0.589;0.454;0.085	T	0.01178	-1.1427	10	0.35671	T	0.21	-3.8723	16.091	0.81090	0.0:0.0:0.0:1.0	.	444;489;450;450;489	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	L	450;489;450;320;443	ENSP00000359896:H450L;ENSP00000359892:H450L;ENSP00000443090:H320L	ENSP00000359892:H450L	H	-	2	0	SLC44A5	75456943	1.000000	0.71417	0.978000	0.43139	0.738000	0.42128	7.977000	0.88081	2.270000	0.75569	0.533000	0.62120	CAT	SLC44A5	-	pfam_Choline_transptr-like	ENSG00000137968		0.418	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1		0.00	20	0	T	NM_152697		75684355	-1			no_errors	ENST00000370855	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A
SLC7A2	6542	genome.wustl.edu	37	8	17412103	17412103	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:17412103A>G	ENST00000494857.1	+	8	1308	c.1090A>G	c.(1090-1092)Atc>Gtc	p.I364V	SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000522656.1_Missense_Mutation_p.I364V|SLC7A2_ENST00000470360.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.I404V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	364				I -> N (in Ref. 1; BAA06271). {ECO:0000305}.	amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCTCGTGTAATCTATGCTAT	0.408																																																	0													197.0	182.0	187.0					8																	17412103		2203	4300	6503	SO:0001583	missense	0			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1090A>G	8.37:g.17412103A>G	ENSP00000419140:p.Ile364Val		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.I404V	ENST00000494857.1	37	c.1210	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614967	0.46631	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000004531	D;D;D	0.90004	-2.6;-2.6;-2.6	4.67	4.67	0.58626	Amino acid permease domain (1);	.	.	.	.	D	0.85331	0.5672	L	0.35644	1.08	0.80722	D	1	B;B	0.21071	0.051;0.002	B;B	0.29785	0.107;0.026	T	0.82462	-0.0445	9	0.45353	T	0.12	.	14.4308	0.67249	1.0:0.0:0.0:0.0	.	404;364	P52569-3;P52569	.;CTR2_HUMAN	V	364;364;404	ENSP00000419140:I364V;ENSP00000430464:I364V;ENSP00000004531:I404V	ENSP00000004531:I404V	I	+	1	0	SLC7A2	17456395	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	1.862000	0.54008	0.377000	0.23210	ATC	SLC7A2	-	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	ENSG00000003989		0.408	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	-	0.00	63	0	A	NM_003046		17412103	+1	tier1	-	no_errors	ENST00000004531	ensembl	human	known	74_37	missense	59.49	32	47	SNP	1.000	G
SLC9A1	6548	genome.wustl.edu	37	1	27432219	27432219	+	Intron	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:27432219C>T	ENST00000263980.3	-	5	2061				SLC9A1_ENST00000374086.3_Missense_Mutation_p.A548T|SLC9A1_ENST00000545949.1_Intron	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1						carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	gaaactgaggcccagaaaggg	0.468																																																	0																																										SO:0001627	intron_variant	0			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1485+156G>A	1.37:g.27432219C>T			B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A548T	ENST00000263980.3	37	c.1642	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160732	0.57368	.	.	ENSG00000090020	ENST00000374086	T	0.65732	-0.17	4.98	3.08	0.35506	.	.	.	.	.	T	0.49592	0.1566	.	.	.	0.19575	N	0.999965	B	0.02656	0.0	B	0.06405	0.002	T	0.46470	-0.9189	8	0.87932	D	0	.	6.7682	0.23579	0.0:0.7262:0.1789:0.0949	.	548	P19634-2	.	T	548	ENSP00000363199:A548T	ENSP00000363199:A548T	A	-	1	0	SLC9A1	27304806	0.269000	0.24143	0.037000	0.18230	0.429000	0.31625	0.476000	0.22180	0.793000	0.33875	0.561000	0.74099	GCC	SLC9A1	-	NULL	ENSG00000090020		0.468	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	-	0.00	27	0	C	NM_003047		27432219	-1	tier1	-	no_errors	ENST00000374086	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.073	T
SLCO1C1	53919	genome.wustl.edu	37	12	20858911	20858911	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:20858911C>A	ENST00000266509.2	+	4	668	c.300C>A	c.(298-300)agC>agA	p.S100R	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S100R|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S100R|SLCO1C1_ENST00000545102.1_5'UTR|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S100R	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	100					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CATTTGTTAGCTACTTTGGAG	0.373																																																	0													136.0	143.0	141.0					12																	20858911		2203	4299	6502	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.300C>A	12.37:g.20858911C>A	ENSP00000266509:p.Ser100Arg		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.S100R	ENST00000266509.2	37	c.300	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574928	0.65878	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.01	4.11	0.48088	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	H	0.95645	3.7	0.48185	D	0.999603	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.84531	0.0633	10	0.87932	D	0	.	10.0759	0.42360	0.0:0.8453:0.0:0.1547	.	100;100;100	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	R	100	ENSP00000444149:S100R;ENSP00000438665:S100R;ENSP00000266509:S100R;ENSP00000370964:S100R	ENSP00000266509:S100R	S	+	3	2	SLCO1C1	20750178	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.614000	0.24314	1.306000	0.44926	0.655000	0.94253	AGC	SLCO1C1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.373	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0.00	52	0	C	NM_017435		20858911	+1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	26.92	38	14	SNP	1.000	A
SNTB2	6645	genome.wustl.edu	37	16	69304146	69304146	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr16:69304146C>T	ENST00000336278.4	+	4	1144	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	369	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		ACAAGAGATGCCTGGGCGTCA	0.453																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)												0													128.0	118.0	122.0					16																	69304146		2198	4300	6498	SO:0001583	missense	0			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1106C>T	16.37:g.69304146C>T	ENSP00000338191:p.Ala369Val		Q9BY09	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.A369V	ENST00000336278.4	37	c.1106	CCDS10873.1	16	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036221	0.93630	.	.	ENSG00000168807	ENST00000336278;ENST00000467311	T	0.49432	0.78	5.99	5.99	0.97316	Pleckstrin homology domain (2);	0.174909	0.51477	D	0.000092	T	0.50103	0.1596	M	0.73962	2.25	0.41220	D	0.986504	P	0.39920	0.695	B	0.37692	0.256	T	0.52823	-0.8524	10	0.41790	T	0.15	-35.0911	14.8656	0.70412	0.1436:0.8564:0.0:0.0	.	369	Q13425	SNTB2_HUMAN	V	369;20	ENSP00000338191:A369V	ENSP00000338191:A369V	A	+	2	0	SNTB2	67861647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.111000	0.57838	2.840000	0.97914	0.655000	0.94253	GCC	SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000168807		0.453	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	-	0.00	54	0	C			69304146	+1	tier1	-	no_errors	ENST00000336278	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
STAC	6769	genome.wustl.edu	37	3	36534710	36534710	+	Missense_Mutation	SNP	G	G	T	rs558026131		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:36534710G>T	ENST00000273183.3	+	6	1055	c.755G>T	c.(754-756)cGc>cTc	p.R252L	STAC_ENST00000457375.2_Missense_Mutation_p.R191L|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	252					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CTAAGGAAACGCAGCAACAGC	0.527																																																	0													112.0	113.0	113.0					3																	36534710		2203	4300	6503	SO:0001583	missense	0			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.755G>T	3.37:g.36534710G>T	ENSP00000273183:p.Arg252Leu		B2R8S8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.R252L	ENST00000273183.3	37	c.755	CCDS2662.1	3	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049212	0.55110	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.76968	-1.06;0.94;0.88	5.24	5.24	0.73138	.	0.240261	0.43416	D	0.000568	T	0.66944	0.2841	N	0.24115	0.695	0.54753	D	0.999988	B;B	0.28713	0.138;0.22	B;B	0.25987	0.04;0.065	T	0.66329	-0.5951	10	0.48119	T	0.1	.	16.125	0.81386	0.0:0.0:1.0:0.0	.	191;252	E9PEA7;Q99469	.;STAC_HUMAN	L	252;191;184;180	ENSP00000273183:R252L;ENSP00000393713:R191L;ENSP00000398403:R180L	ENSP00000273183:R252L	R	+	2	0	STAC	36509714	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	6.081000	0.71309	2.617000	0.88574	0.655000	0.94253	CGC	STAC	-	NULL	ENSG00000144681		0.527	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	HGNC	protein_coding	OTTHUMT00000253338.2	-	0.00	48	0	G	NM_003149		36534710	+1	tier1	-	no_errors	ENST00000273183	ensembl	human	known	74_37	missense	53.49	20	23	SNP	0.998	T
SYCP2	10388	genome.wustl.edu	37	20	58495530	58495530	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr20:58495530C>T	ENST00000357552.3	-	5	406	c.181G>A	c.(181-183)Gag>Aag	p.E61K	SYCP2_ENST00000476314.1_5'UTR|SYCP2_ENST00000371001.2_Missense_Mutation_p.E61K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	61					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGGATATCCTCTTTATTAAGT	0.318																																																	0													61.0	53.0	56.0					20																	58495530		2201	4296	6497	SO:0001583	missense	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.181G>A	20.37:g.58495530C>T	ENSP00000350162:p.Glu61Lys		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.E61K	ENST00000357552.3	37	c.181	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	1.975	-0.435555	0.04669	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	T;T;T;T	0.39229	3.48;3.48;3.48;1.09	5.63	4.54	0.55810	.	0.438795	0.23418	N	0.048397	T	0.09335	0.0230	N	0.00347	-1.61	0.21762	N	0.999556	B	0.06786	0.001	B	0.04013	0.001	T	0.34502	-0.9826	10	0.02654	T	1	-3.2729	5.7944	0.18379	0.0:0.1572:0.1545:0.6883	.	61	Q9BX26	SYCP2_HUMAN	K	61;61;61;60	ENSP00000360040:E61K;ENSP00000350162:E61K;ENSP00000402456:E61K;ENSP00000399300:E60K	ENSP00000350162:E61K	E	-	1	0	SYCP2	57928925	0.997000	0.39634	0.980000	0.43619	0.681000	0.39784	1.356000	0.34079	0.987000	0.38709	-0.302000	0.09304	GAG	SYCP2	-	NULL	ENSG00000196074		0.318	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	-	0.00	29	0	C	NM_014258		58495530	-1	tier1	-	no_errors	ENST00000357552	ensembl	human	known	74_37	missense	47.62	22	20	SNP	0.998	T
SYNJ1	8867	genome.wustl.edu	37	21	34038867	34038867	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr21:34038867G>A	ENST00000322229.7	-	15	1827	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F	SYNJ1_ENST00000433931.2_Missense_Mutation_p.L649F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L605F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.L610F|SYNJ1_ENST00000382499.2_Missense_Mutation_p.L649F			O43426	SYNJ1_HUMAN	synaptojanin 1	610	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACAGCCCAGAGCTTCTGATTT	0.348																																																	0													104.0	103.0	104.0					21																	34038867		2203	4300	6503	SO:0001583	missense	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1828C>T	21.37:g.34038867G>A	ENSP00000322234:p.Leu610Phe		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.L649F	ENST00000322229.7	37	c.1945	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369708	0.82573	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.86	4.79	0.61399	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	N	0.17764	0.52	0.80722	D	1	D;D;D;D;D	0.71674	0.984;0.986;0.996;0.983;0.998	D;P;D;D;P	0.67725	0.912;0.895;0.953;0.932;0.897	T	0.24799	-1.0150	10	0.54805	T	0.06	.	15.864	0.79047	0.0752:0.0:0.9248:0.0	.	605;649;610;610;610	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	F	605;610;649;649;610;605	ENSP00000371931:L605F;ENSP00000349903:L610F;ENSP00000371939:L649F;ENSP00000409667:L649F;ENSP00000322234:L610F;ENSP00000413649:L605F	ENSP00000322234:L610F	L	-	1	0	SYNJ1	32960738	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.626000	0.74253	2.778000	0.95560	0.655000	0.94253	CTC	SYNJ1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000159082		0.348	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0.00	32	0	G			34038867	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	missense	53.33	14	16	SNP	1.000	A
SYTL4	94121	genome.wustl.edu	37	X	99941718	99941718	+	Silent	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chrX:99941718G>T	ENST00000372989.1	-	14	1576	c.1245C>A	c.(1243-1245)atC>atA	p.I415I	SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000276141.6_Silent_p.I415I|SYTL4_ENST00000454200.2_Silent_p.I417I|SYTL4_ENST00000455616.1_Silent_p.I415I|SYTL4_ENST00000263033.5_Silent_p.I415I	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	415	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGTCCCGCTTGATGCTGGTTT	0.443																																																	0													206.0	155.0	173.0					X																	99941718		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1245C>A	X.37:g.99941718G>T			Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin	p.I417	ENST00000372989.1	37	c.1251	CCDS14472.1	X																																																																																			SYTL4	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000102362		0.443	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	-	0.00	51	0	G	NM_080737		99941718	-1	tier1	-	no_errors	ENST00000454200	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T
TBCK	93627	genome.wustl.edu	37	4	106967751	106967751	+	Silent	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:106967751G>T	ENST00000273980.5	-	27	3105	c.2658C>A	c.(2656-2658)ctC>ctA	p.L886L	TBCK_ENST00000394708.2_Silent_p.L886L|TBCK_ENST00000432496.2_Silent_p.L886L|TBCK_ENST00000361687.4_Silent_p.L823L|TBCK_ENST00000394706.3_Silent_p.L847L					TBC1 domain containing kinase									p.L886L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATGGGATGGTGAGGAGGCCTG	0.423																																																	1	Substitution - coding silent(1)	lung(1)											124.0	120.0	121.0					4																	106967751		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2658C>A	4.37:g.106967751G>T				Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom	p.L886	ENST00000273980.5	37	c.2658	CCDS54788.1	4																																																																																			TBCK	-	smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000145348		0.423	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCK	HGNC	protein_coding	OTTHUMT00000253953.4		0.00	33	0	G	NM_033115		106967751	-1			no_errors	ENST00000273980	ensembl	human	known	74_37	silent	6.67	42	3	SNP	1.000	T
TCHH	7062	genome.wustl.edu	37	1	152082711	152082711	+	Silent	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:152082711C>T	ENST00000368804.1	-	2	2981	c.2982G>A	c.(2980-2982)gaG>gaA	p.E994E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	994	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctgcaactcctcttcctcgc	0.577																																																	0													101.0	104.0	103.0					1																	152082711		1926	4123	6049	SO:0001819	synonymous_variant	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2982G>A	1.37:g.152082711C>T			Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.E994	ENST00000368804.1	37	c.2982	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0.00	58	0	C	NM_007113		152082711	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	silent	18.57	57	13	SNP	0.004	T
TFPT	29844	genome.wustl.edu	37	19	54617837	54617837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:54617837G>T	ENST00000391759.1	-	2	672	c.267C>A	c.(265-267)tgC>tgA	p.C89*	PRPF31_ENST00000419967.1_5'Flank|TFPT_ENST00000391758.1_Nonsense_Mutation_p.C80*|TFPT_ENST00000391757.1_Nonsense_Mutation_p.C89*|PRPF31_ENST00000321030.4_5'Flank	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	89					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CGATCTCCCGGCAGCGCCGAC	0.652			T	TCF3	pre-B ALL																																			Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	0													37.0	42.0	40.0					19																	54617837		2203	4300	6503	SO:0001587	stop_gained	0			AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.267C>A	19.37:g.54617837G>T	ENSP00000375639:p.Cys89*			Nonsense_Mutation	SNP	NULL	p.C89*	ENST00000391759.1	37	c.267	CCDS12878.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.173468	0.97348	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1288	17.1463	0.86767	0.0:0.0:1.0:0.0	.	.	.	.	X	89;80;89	.	ENSP00000375637:C89X	C	-	3	2	TFPT	59309649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.933000	0.48948	2.409000	0.81822	0.563000	0.77884	TGC	TFPT	-	NULL	ENSG00000105619		0.652	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPT	HGNC	protein_coding	OTTHUMT00000141215.4	-	0.00	47	0	G	NM_013342		54617837	-1	tier1	-	no_errors	ENST00000391759	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	T
TMCC1	23023	genome.wustl.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																																	0																																										SO:0001651	inframe_deletion	0			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del		A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	pfam_Predicted_TM_coiled-coil_2	p.Q570in_frame_del	ENST00000393238.3	37	c.1710_1708	CCDS33855.1	3																																																																																			TMCC1	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000172765		0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2		0.00	26	0	CTG	NM_015008		129370578	-1	tier1		no_errors	ENST00000393238	ensembl	human	known	74_37	in_frame_del	10.34	26	3	DEL	1.000:1.000:1.000	-
TMEM132C	92293	genome.wustl.edu	37	12	128899509	128899509	+	Silent	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:128899509G>A	ENST00000435159.2	+	2	318	c.318G>A	c.(316-318)aaG>aaA	p.K106K		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	106						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CTGTGGAGAAGGTTGTGCCTC	0.488																																																	0													108.0	93.0	97.0					12																	128899509		692	1591	2283	SO:0001819	synonymous_variant	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.318G>A	12.37:g.128899509G>A			Q69YX8	Silent	SNP	NULL	p.K106	ENST00000435159.2	37	c.318		12																																																																																			TMEM132C	-	NULL	ENSG00000181234		0.488	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		-	0.00	38	0	G	XM_044062		128899509	+1	tier1	-	no_errors	ENST00000435159	ensembl	human	known	74_37	silent	27.66	34	13	SNP	0.750	A
TMEM33	55161	genome.wustl.edu	37	4	41946898	41946898	+	Missense_Mutation	SNP	G	G	T	rs372203207		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr4:41946898G>T	ENST00000504986.1	+	5	850	c.485G>T	c.(484-486)tGc>tTc	p.C162F	TMEM33_ENST00000325094.5_Missense_Mutation_p.C162F|TMEM33_ENST00000513702.1_Missense_Mutation_p.C162F	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	162						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						TTCATTGCTTGCAATGAAATA	0.343																																																	0													95.0	96.0	96.0					4																	41946898		2202	4299	6501	SO:0001583	missense	0			BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.485G>T	4.37:g.41946898G>T	ENSP00000422473:p.Cys162Phe		B3KSS8|Q9H953	Missense_Mutation	SNP	pfam_UPF0121	p.C162F	ENST00000504986.1	37	c.485	CCDS3464.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.65|15.65	2.897659|2.897659	0.52121|0.52121	.|.	.|.	ENSG00000109133|ENSG00000109133	ENST00000513558|ENST00000504986;ENST00000508448;ENST00000513702;ENST00000325094	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49270|0.49270	0.1547|0.1547	N|N	0.13140|0.13140	0.3|0.3	0.80722|0.80722	D|D	1|1	.|D	.|0.55172	.|0.97	.|P	.|0.55667	.|0.781	T|T	0.36335|0.36335	-0.9752|-0.9752	5|9	.|0.10111	.|T	.|0.7	-10.3702|-10.3702	19.2675|19.2675	0.93996|0.93996	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|162	.|P57088	.|TMM33_HUMAN	S|F	96|162	.|.	.|ENSP00000441455:C162F	A|C	+|+	1|2	0|0	TMEM33|TMEM33	41641655|41641655	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	GCA|TGC	TMEM33	-	pfam_UPF0121	ENSG00000109133		0.343	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM33	HGNC	protein_coding	OTTHUMT00000216834.2	-	0.00	50	0	G	NM_018126		41946898	+1	tier1	-	no_errors	ENST00000325094	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
TMTC2	160335	genome.wustl.edu	37	12	83289683	83289683	+	Silent	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr12:83289683A>G	ENST00000321196.3	+	3	1448	c.741A>G	c.(739-741)ggA>ggG	p.G247G	TMTC2_ENST00000548305.1_Silent_p.G247G|TMTC2_ENST00000549919.1_Silent_p.G241G	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	247					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACTGGATGGGAAACAAACCAC	0.488																																																	0													142.0	145.0	144.0					12																	83289683		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.741A>G	12.37:g.83289683A>G			B2RCU7|Q8N2K8	Silent	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G247	ENST00000321196.3	37	c.741	CCDS9025.1	12																																																																																			TMTC2	-	pfam_DUF1736	ENSG00000179104		0.488	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	HGNC	protein_coding	OTTHUMT00000405663.1	-	0.00	18	0	A	NM_152588		83289683	+1	tier1	-	no_errors	ENST00000321196	ensembl	human	known	74_37	silent	35.14	24	13	SNP	0.993	G
TOP1MT	116447	genome.wustl.edu	37	8	144400203	144400203	+	Silent	SNP	G	G	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr8:144400203G>C	ENST00000329245.4	-	9	1234	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L	TOP1MT_ENST00000523676.1_Silent_p.L302L|TOP1MT_ENST00000521193.1_Silent_p.L302L|TOP1MT_ENST00000519148.1_Silent_p.L302L	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	400					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCCTGTCGAAGAGGTCGTCCC	0.567																																																	0													75.0	81.0	79.0					8																	144400203		2203	4300	6503	SO:0001819	synonymous_variant	0			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1200C>G	8.37:g.144400203G>C			B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.L400	ENST00000329245.4	37	c.1200	CCDS6400.1	8																																																																																			TOP1MT	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk	ENSG00000184428		0.567	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1MT	HGNC	protein_coding	OTTHUMT00000381247.3	-	0.00	59	0	G	NM_052963		144400203	-1	tier1	-	no_errors	ENST00000329245	ensembl	human	known	74_37	silent	50.59	41	43	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654|rs587780066	byFrequency	TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAGCCCAGACGGAAACCGTA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM984590	TP53	M	rs11540654						63.0	60.0	61.0					17																	7579358		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.329G>T	17.37:g.7579358C>A	ENSP00000269305:p.Arg110Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R110L	ENST00000269305.4	37	c.329	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	261	0	C	NM_000546		7579358	-1	tier1	rs11540654	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	54.19	142	168	SNP	0.004	A
TRIP4	9325	genome.wustl.edu	37	15	64701892	64701892	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:64701892G>A	ENST00000261884.3	+	7	968	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	303					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAACTTGAGCGGGAAACCTTG	0.463																																																	0													117.0	112.0	114.0					15																	64701892		2203	4300	6503	SO:0001583	missense	0			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.908G>A	15.37:g.64701892G>A	ENSP00000261884:p.Arg303Gln		B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain	p.R303Q	ENST00000261884.3	37	c.908	CCDS10194.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.858355	0.97036	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86459	0.1778	9	0.87932	D	0	-15.5417	19.7347	0.96198	0.0:0.0:1.0:0.0	.	303	Q15650	TRIP4_HUMAN	Q	303	.	ENSP00000261884:R303Q	R	+	2	0	TRIP4	62488945	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.386000	0.97228	2.675000	0.91044	0.555000	0.69702	CGG	TRIP4	-	NULL	ENSG00000103671		0.463	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP4	HGNC	protein_coding	OTTHUMT00000256635.2		0.00	38	0	G	NM_016213		64701892	+1			no_errors	ENST00000261884	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A
TRNAU1AP	54952	genome.wustl.edu	37	1	28897783	28897783	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:28897783A>G	ENST00000373830.3	+	7	652	c.626A>G	c.(625-627)tAt>tGt	p.Y209C		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	209	Tyr-rich.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CAGTGGGGCTATGACCAGAAC	0.483																																																	0													180.0	146.0	158.0					1																	28897783		2203	4300	6503	SO:0001583	missense	0				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.626A>G	1.37:g.28897783A>G	ENSP00000362936:p.Tyr209Cys		Q86SU7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y209C	ENST00000373830.3	37	c.626	CCDS324.1	1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374865	0.82573	.	.	ENSG00000180098	ENST00000373830	T	0.27402	1.67	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.52710	0.707	T	0.24728	-1.0152	10	0.42905	T	0.14	.	13.3382	0.60530	1.0:0.0:0.0:0.0	.	209	Q9NX07	TSAP1_HUMAN	C	209	ENSP00000362936:Y209C	ENSP00000362936:Y209C	Y	+	2	0	TRNAU1AP	28770370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.130000	0.94437	2.180000	0.69256	0.533000	0.62120	TAT	TRNAU1AP	-	NULL	ENSG00000180098		0.483	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	HGNC	protein_coding	OTTHUMT00000010346.1	-	0.00	32	0	A	NM_017846		28897783	+1	tier1	-	no_errors	ENST00000373830	ensembl	human	known	74_37	missense	35.85	34	19	SNP	1.000	G
TROVE2	6738	genome.wustl.edu	37	1	193053997	193053997	+	3'UTR	DEL	A	A	-	rs201693727|rs549404223		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:193053997delA	ENST00000367446.3	+	0	1963				TROVE2_ENST00000432079.1_3'UTR|TROVE2_ENST00000400968.2_3'UTR|TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367444.3_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2						cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TACCTTACTGAAAAAAAAAAA	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.*136A>-	1.37:g.193053997delA			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	RNA	DEL	-	NULL	ENST00000367446.3	37	NULL	CCDS1379.1	1																																																																																			TROVE2	-	-	ENSG00000116747		0.358	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1		0.00	15	0	A	NM_004600		193053997	+1	tier1		no_errors	ENST00000460715	ensembl	human	known	74_37	rna	13.33	13	2	DEL	0.000	-
TRPM7	54822	genome.wustl.edu	37	15	50867083	50867083	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr15:50867083T>C	ENST00000313478.7	-	34	5266	c.4985A>G	c.(4984-4986)tAc>tGc	p.Y1662C	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1661C|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1662	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATCTTCTTTGTAAATACTTGA	0.323																																																	0													81.0	78.0	79.0					15																	50867083		1805	4075	5880	SO:0001583	missense	0			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4985A>G	15.37:g.50867083T>C	ENSP00000320239:p.Tyr1662Cys		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.Y1662C	ENST00000313478.7	37	c.4985	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011131	0.75046	.	.	ENSG00000092439	ENST00000313478	T	0.08008	3.14	5.39	5.39	0.77823	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.123452	0.56097	D	0.000023	T	0.26268	0.0641	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00463	-1.1724	10	0.87932	D	0	-19.725	15.5781	0.76408	0.0:0.0:0.0:1.0	.	1662	Q96QT4	TRPM7_HUMAN	C	1662	ENSP00000320239:Y1662C	ENSP00000320239:Y1662C	Y	-	2	0	TRPM7	48654375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.674000	0.83992	2.260000	0.74910	0.528000	0.53228	TAC	TRPM7	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000092439		0.323	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	-	0.00	26	0	T	NM_017672		50867083	-1	tier1	-	no_errors	ENST00000313478	ensembl	human	known	74_37	missense	47.22	19	17	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179640737	179640737	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr2:179640737G>T	ENST00000591111.1	-	28	6078	c.5854C>A	c.(5854-5856)Cat>Aat	p.H1952N	TTN_ENST00000460472.2_Missense_Mutation_p.H1906N|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H1952N|TTN_ENST00000359218.5_Missense_Mutation_p.H1906N|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.H1952N|TTN_ENST00000589042.1_Missense_Mutation_p.H1952N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H1906N|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12779					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)			CCTGGTTCATGTACGTGAAAC	0.423																																																	0													173.0	178.0	176.0					2																	179640737		2203	4300	6503	SO:0001583	missense	0			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.5854C>A	2.37:g.179640737G>T	ENSP00000465570:p.His1952Asn		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	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H1952N	ENST00000591111.1	37	c.5854		2	.	.	.	.	.	.	.	.	.	.	G	6.235	0.411461	0.11812	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62232	0.04;0.27;0.25;0.24;0.4	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.49440	0.1557	N	0.14661	0.345	0.20975	N	0.999816	P;P;P;P;P	0.47910	0.454;0.454;0.454;0.454;0.902	B;B;B;B;B	0.43301	0.053;0.053;0.053;0.053;0.415	T	0.49351	-0.8949	9	0.87932	D	0	.	13.4151	0.60963	0.0:0.0:0.8024:0.1975	.	1906;1906;1906;1952;1952	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	1952;1906;1906;1906;1906;1952	ENSP00000343764:H1952N;ENSP00000434586:H1906N;ENSP00000340554:H1906N;ENSP00000352154:H1906N;ENSP00000354117:H1952N	ENSP00000340554:H1906N	H	-	1	0	TTN	179348982	1.000000	0.71417	0.261000	0.24466	0.720000	0.41350	3.252000	0.51461	2.385000	0.81259	0.609000	0.83330	CAT	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	49	0	G	NM_133378		179640737	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.586	T
UBE2V1	7335	genome.wustl.edu	37	20	48698866	48698866	+	3'UTR	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr20:48698866C>T	ENST00000371674.3	-	0	927				UBE2V1_ENST00000420027.2_3'UTR|UBE2V1_ENST00000371677.3_3'UTR|UBE2V1_ENST00000371657.5_3'UTR|UBE2V1_ENST00000396059.3_5'UTR|TMEM189-UBE2V1_ENST00000341698.2_3'UTR|UBE2V1_ENST00000415862.2_3'UTR|TMEM189_ENST00000557021.1_3'UTR|UBE2V1_ENST00000340309.3_3'UTR	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1						cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			TCTACTCTAACAAGCCCCCCA	0.572																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.*439G>A	20.37:g.48698866C>T			E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	RNA	SNP	-	NULL	ENST00000371674.3	37	NULL	CCDS33483.1	20																																																																																			UBE2V1	-	-	ENSG00000244687		0.572	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	UBE2V1	HGNC	protein_coding	OTTHUMT00000080530.1	-	0.00	30	0	C	NM_021988		48698866	-1	tier1	-	no_errors	ENST00000396059	ensembl	human	known	74_37	rna	24.44	34	11	SNP	0.966	T
USH2A	7399	genome.wustl.edu	37	1	216258050	216258050	+	Silent	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:216258050G>A	ENST00000307340.3	-	25	5543	c.5157C>T	c.(5155-5157)ttC>ttT	p.F1719F	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Silent_p.F1719F|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1719	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGCTCCTAGGAACTGAGCTC	0.398										HNSCC(13;0.011)																																							0													100.0	96.0	97.0					1																	216258050		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5157C>T	1.37:g.216258050G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.F1719	ENST00000307340.3	37	c.5157	CCDS31025.1	1																																																																																			USH2A	-	superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,pfscan_Laminin_G	ENSG00000042781		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	30	0	G	NM_007123		216258050	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	27.78	26	10	SNP	1.000	A
USP14	9097	genome.wustl.edu	37	18	180329	180329	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:180329G>T	ENST00000261601.7	+	5	485	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	USP14_ENST00000383589.2_Missense_Mutation_p.A86S|USP14_ENST00000582707.1_Missense_Mutation_p.A97S|USP14_ENST00000400266.3_Missense_Mutation_p.A121S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	132	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ACTCAAAGATGCCCTTAAAAG	0.383																																																	0													144.0	107.0	120.0					18																	180329		2203	4300	6503	SO:0001583	missense	0			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.394G>T	18.37:g.180329G>T	ENSP00000261601:p.Ala132Ser		J3QRZ5|Q53XY5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.A132S	ENST00000261601.7	37	c.394	CCDS32780.1	18	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778222	0.90195	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.31769	1.48;1.48	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.45051	1.395	0.80722	D	1	P;P;P	0.45634	0.863;0.771;0.863	P;P;P	0.50049	0.629;0.562;0.629	T	0.03761	-1.1006	10	0.40728	T	0.16	-5.9486	19.3691	0.94477	0.0:0.0:1.0:0.0	.	121;97;132	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	S	132;97;121	ENSP00000261601:A132S;ENSP00000383125:A121S	ENSP00000261601:A132S	A	+	1	0	USP14	170329	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.970000	0.76099	2.679000	0.91253	0.591000	0.81541	GCC	USP14	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000101557		0.383	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	HGNC	protein_coding	OTTHUMT00000440305.3	-	0.00	48	0	G	NM_005151		180329	+1	tier1	-	no_errors	ENST00000261601	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
VTA1	51534	genome.wustl.edu	37	6	142510589	142510589	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:142510589A>T	ENST00000367630.4	+	5	496	c.438A>T	c.(436-438)agA>agT	p.R146S	VTA1_ENST00000367621.1_Missense_Mutation_p.R88S|VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Missense_Mutation_p.R88S	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	146	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGTATGCCAGATGGAAGGCAA	0.338																																																	0													108.0	110.0	109.0					6																	142510589		2203	4300	6503	SO:0001583	missense	0			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.438A>T	6.37:g.142510589A>T	ENSP00000356602:p.Arg146Ser		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	NULL	p.R146S	ENST00000367630.4	37	c.438	CCDS5197.1	6	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621402	0.46736	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	T;T;T	0.42900	0.96;0.96;0.96	5.46	0.389	0.16269	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.093430	0.64402	D	0.000002	T	0.23249	0.0562	L	0.38838	1.175	0.48135	D	0.999593	B;B	0.27700	0.186;0.082	B;B	0.40782	0.34;0.098	T	0.18555	-1.0333	10	0.66056	D	0.02	-17.5715	9.8211	0.40883	0.5165:0.0:0.4835:0.0	.	88;146	E7ETQ7;Q9NP79	.;VTA1_HUMAN	S	146;88;88;147	ENSP00000356602:R146S;ENSP00000356593:R88S;ENSP00000395767:R88S	ENSP00000356593:R88S	R	+	3	2	VTA1	142552282	0.977000	0.34250	0.998000	0.56505	0.981000	0.71138	0.128000	0.15810	0.026000	0.15269	-0.321000	0.08615	AGA	VTA1	-	NULL	ENSG00000009844		0.338	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTA1	HGNC	protein_coding	OTTHUMT00000042483.2	-	0.00	46	0	A	NM_016485		142510589	+1	tier1	-	no_errors	ENST00000367630	ensembl	human	known	74_37	missense	41.27	37	26	SNP	0.989	T
VTCN1	79679	genome.wustl.edu	37	1	117699294	117699294	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:117699294C>T	ENST00000369458.3	-	3	425	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	VTCN1_ENST00000539893.1_Missense_Mutation_p.R21Q|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Missense_Mutation_p.R119Q|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GTTTTTCAGCCGCAAAGAGGC	0.453																																																	0													97.0	93.0	95.0					1																	117699294		2203	4300	6503	SO:0001583	missense	0			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.347G>A	1.37:g.117699294C>T	ENSP00000358470:p.Arg116Gln			Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R119Q	ENST00000369458.3	37	c.356	CCDS894.1	1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655025	0.47467	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000539893	T;T;T	0.65364	-0.15;-0.15;-0.15	6.08	2.78	0.32641	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.172268	0.42053	D	0.000775	T	0.24084	0.0583	L	0.28608	0.87	0.24205	N	0.995499	B	0.30511	0.282	B	0.26202	0.067	T	0.06481	-1.0824	10	0.45353	T	0.12	-21.3003	5.5341	0.17001	0.0:0.6101:0.1689:0.221	.	116	Q7Z7D3	VTCN1_HUMAN	Q	116;119;21	ENSP00000358470:R116Q;ENSP00000351899:R119Q;ENSP00000444724:R21Q	ENSP00000351899:R119Q	R	-	2	0	VTCN1	117500817	0.897000	0.30589	0.998000	0.56505	0.726000	0.41606	0.161000	0.16481	0.893000	0.36288	0.637000	0.83480	CGG	VTCN1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000134258		0.453	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VTCN1	HGNC	protein_coding	OTTHUMT00000033500.2	-	0.00	47	0	C	NM_024626		117699294	-1	tier1	-	no_errors	ENST00000359008	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.937	T
TMEM199	147007	genome.wustl.edu	37	17	26691418	26691418	+	IGR	SNP	G	G	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr17:26691418G>T	ENST00000292114.3	+	0	3148				CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.7_ENST00000577850.1_RNA|VTN_ENST00000431468.1_Missense_Mutation_p.P175T|VTN_ENST00000536498.1_Missense_Mutation_p.P174T|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_3'UTR|CTB-96E2.2_ENST00000555059.2_3'UTR|VTN_ENST00000438614.1_Missense_Mutation_p.P174T	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GATCCCCATGGGGCTACAGCT	0.602																																																	0													24.0	28.0	27.0					17																	26691418		1964	4144	6108	SO:0001628	intergenic_variant	0			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691418G>T				Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P175T	ENST00000292114.3	37	c.523	CCDS11228.1	17	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897022	0.17686	.	.	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	D;D;D	0.91843	-2.85;-2.92;-2.92	5.06	4.06	0.47325	.	0.402810	0.21428	N	0.074707	D	0.85932	0.5812	L	0.34521	1.04	0.26858	N	0.968023	P;P	0.38148	0.62;0.62	B;B	0.36244	0.22;0.22	T	0.77122	-0.2704	10	0.29301	T	0.29	.	11.0165	0.47691	0.0:0.1881:0.8119:0.0	.	175;174	Q9HB31;C9JDG5	SEBOX_HUMAN;.	T	175;174;174;179;200	ENSP00000416240:P175T;ENSP00000444503:P174T;ENSP00000395142:P174T	ENSP00000247029:P179T	P	-	1	0	VTN;CTB-96E2.2	23715545	0.270000	0.24152	0.734000	0.30879	0.070000	0.16714	1.168000	0.31859	1.296000	0.44742	0.555000	0.69702	CCA	VTN	-	NULL	ENSG00000109072		0.602	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	HGNC	protein_coding	OTTHUMT00000255676.2	-	0.00	37	0	G	NM_152464		26691418	-1	tier1	-	no_errors	ENST00000431468	ensembl	human	known	74_37	missense	53.66	19	22	SNP	0.369	T
WDR36	134430	genome.wustl.edu	37	5	110434486	110434486	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:110434486A>G	ENST00000513710.2	+	4	530	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	WDR36_ENST00000505303.1_Missense_Mutation_p.I120V|WDR36_ENST00000506538.2_Missense_Mutation_p.I176V			Q8NI36	WDR36_HUMAN	WD repeat domain 36	176					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AGACCACATTATCTCTGTTGA	0.318																																																	0													144.0	137.0	139.0					5																	110434486		2202	4299	6501	SO:0001583	missense	0			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.526A>G	5.37:g.110434486A>G	ENSP00000424628:p.Ile176Val		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I176V	ENST00000513710.2	37	c.526	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	A	16.38	3.107653	0.56291	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303;ENST00000504122	T;T;T;T	0.33865	1.69;1.69;3.41;1.39	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045727	0.85682	D	0.000000	T	0.31451	0.0797	L	0.28054	0.825	0.80722	D	1	B	0.28900	0.227	B	0.32393	0.145	T	0.14337	-1.0476	10	0.87932	D	0	-13.6579	16.0011	0.80292	1.0:0.0:0.0:0.0	.	176	Q8NI36	WDR36_HUMAN	V	176;176;120;47	ENSP00000423067:I176V;ENSP00000424628:I176V;ENSP00000422158:I120V;ENSP00000426509:I47V	ENSP00000426509:I47V	I	+	1	0	WDR36	110462385	1.000000	0.71417	0.985000	0.45067	0.950000	0.60333	6.069000	0.71209	2.177000	0.69029	0.528000	0.53228	ATC	WDR36	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134987		0.318	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	-	0.00	13	0	A	NM_139281		110434486	+1	tier1	-	no_errors	ENST00000506538	ensembl	human	known	74_37	missense	57.14	6	8	SNP	0.999	G
XPNPEP3	63929	genome.wustl.edu	37	22	41277988	41277988	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr22:41277988C>A	ENST00000357137.4	+	3	480	c.396C>A	c.(394-396)agC>agA	p.S132R	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.S132R|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.S109R|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.S132R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	132					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AGCCTGATAGCATTCTTGTCC	0.463																																					Ovarian(145;306 1841 7037 21878 30110)												0													149.0	129.0	136.0					22																	41277988		2203	4300	6503	SO:0001583	missense	0				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.396C>A	22.37:g.41277988C>A	ENSP00000349658:p.Ser132Arg		B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.S132R	ENST00000357137.4	37	c.396	CCDS14007.1	22	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109764	0.56398	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.7	3.62	0.41486	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	M	0.91038	3.17	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90589	0.4535	10	0.87932	D	0	.	12.4334	0.55586	0.0:0.8636:0.0:0.1364	.	132;132	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	R	132;132;132;109	ENSP00000443682:S132R;ENSP00000397110:S132R;ENSP00000349658:S132R;ENSP00000441942:S109R	ENSP00000349658:S132R	S	+	3	2	XPNPEP3	39607934	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	1.922000	0.40045	0.770000	0.33336	-0.261000	0.10672	AGC	XPNPEP3	-	pfam_Aminopep_P_N	ENSG00000196236		0.463	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP3	HGNC	protein_coding	OTTHUMT00000322201.2	-	0.00	42	0	C	NM_022098		41277988	+1	tier1	-	no_errors	ENST00000357137	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A
ZBTB16	7704	genome.wustl.edu	37	11	113935103	113935103	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr11:113935103G>A	ENST00000335953.4	+	2	1461	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	ZBTB16_ENST00000392996.2_Missense_Mutation_p.A361T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	361					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A361S(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGTGCAGCCTGCCCTGGCTGT	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											59.0	59.0	59.0					11																	113935103		2201	4296	6497	SO:0001583	missense	0			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1081G>A	11.37:g.113935103G>A	ENSP00000338157:p.Ala361Thr		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A361T	ENST00000335953.4	37	c.1081	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692386	0.30052	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.10382	2.88;2.88	5.2	1.23	0.21249	.	0.187590	0.46442	N	0.000288	T	0.05777	0.0151	N	0.14661	0.345	0.43808	D	0.99636	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.40059	-0.9583	10	0.28530	T	0.3	-2.3437	9.0797	0.36545	0.3499:0.0:0.6501:0.0	.	361;366	Q05516;Q59H43	ZBT16_HUMAN;.	T	361	ENSP00000338157:A361T;ENSP00000376721:A361T	ENSP00000338157:A361T	A	+	1	0	ZBTB16	113440313	0.993000	0.37304	0.301000	0.25044	0.982000	0.71751	1.881000	0.39638	0.072000	0.16694	0.563000	0.77884	GCC	ZBTB16	-	NULL	ENSG00000109906		0.617	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1		0.00	20	0	G	NM_006006		113935103	+1			no_errors	ENST00000335953	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.763	A
ZCCHC2	54877	genome.wustl.edu	37	18	60241388	60241388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:60241388C>T	ENST00000269499.5	+	13	2492	c.2074C>T	c.(2074-2076)Caa>Taa	p.Q692*	ZCCHC2_ENST00000586834.1_Nonsense_Mutation_p.Q371*	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	692						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCCACCTGTTCAAATTGCTTC	0.413																																																	0													149.0	141.0	143.0					18																	60241388		1887	4112	5999	SO:0001587	stop_gained	0			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2074C>T	18.37:g.60241388C>T	ENSP00000269499:p.Gln692*		B2RPG6|Q8N3S1|Q9NXF6	Nonsense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q692*	ENST00000269499.5	37	c.2074	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978415	0.92982	.	.	ENSG00000141664	ENST00000269499	.	.	.	5.9	3.05	0.35203	.	0.927646	0.09211	N	0.833225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	1.7617	11.2216	0.48857	0.1274:0.5786:0.294:0.0	.	.	.	.	X	692	.	ENSP00000269499:Q692X	Q	+	1	0	ZCCHC2	58392368	0.687000	0.27671	0.049000	0.19019	0.846000	0.48090	1.888000	0.39708	0.330000	0.23485	0.650000	0.86243	CAA	ZCCHC2	-	NULL	ENSG00000141664		0.413	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	-	0.00	49	0	C	NM_017742		60241388	+1	tier1	-	no_errors	ENST00000269499	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	0.202	T
ZNF326	284695	genome.wustl.edu	37	1	90493112	90493112	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr1:90493112A>G	ENST00000340281.4	+	12	1744	c.1601A>G	c.(1600-1602)aAt>aGt	p.N534S	ZNF326_ENST00000370447.3_Missense_Mutation_p.N445S|ZNF326_ENST00000455342.2_Missense_Mutation_p.N328S	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	534	Glu-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		ggcgagggaaatatacaggga	0.507																																																	0													53.0	47.0	49.0					1																	90493112		2201	4300	6501	SO:0001583	missense	0			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1601A>G	1.37:g.90493112A>G	ENSP00000340796:p.Asn534Ser		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	pfam_AKAP95	p.N534S	ENST00000340281.4	37	c.1601	CCDS727.1	1	.	.	.	.	.	.	.	.	.	.	A	2.801	-0.249203	0.05867	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.42900	0.96;0.96;0.96	3.92	1.58	0.23477	.	2.252170	0.02347	N	0.075549	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14671	-1.0464	10	0.05833	T	0.94	3.6465	5.6172	0.17438	0.7732:0.0:0.2268:0.0	.	534;534	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	S	534;534;445;328	ENSP00000340796:N534S;ENSP00000359476:N445S;ENSP00000403470:N328S	ENSP00000340796:N534S	N	+	2	0	ZNF326	90265700	.	.	0.002000	0.10522	0.008000	0.06430	.	.	0.327000	0.23409	-0.415000	0.06103	AAT	ZNF326	-	NULL	ENSG00000162664		0.507	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	-	0.00	30	0	A	NM_181781		90493112	+1	tier1	-	no_errors	ENST00000340281	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.003	G
ZNF354A	6940	genome.wustl.edu	37	5	178139089	178139089	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr5:178139089T>C	ENST00000335815.2	-	5	1987	c.1790A>G	c.(1789-1791)tAt>tGt	p.Y597C		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	597					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATGAATTTTATAATGATTAGT	0.363																																																	0													62.0	66.0	65.0					5																	178139089		2202	4300	6502	SO:0001583	missense	0			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1790A>G	5.37:g.178139089T>C	ENSP00000337122:p.Tyr597Cys		Q9UNJ8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y597C	ENST00000335815.2	37	c.1790	CCDS4438.1	5	.	.	.	.	.	.	.	.	.	.	T	8.513	0.866919	0.17250	.	.	ENSG00000169131	ENST00000335815	T	0.06449	3.3	4.47	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	L	0.35542	1.07	0.27671	N	0.94676	B	0.09022	0.002	B	0.04013	0.001	T	0.33445	-0.9868	9	0.87932	D	0	-10.4622	4.6842	0.12750	0.1689:0.095:0.0:0.7361	.	597	O60765	Z354A_HUMAN	C	597	ENSP00000337122:Y597C	ENSP00000337122:Y597C	Y	-	2	0	ZNF354A	178071695	.	.	0.888000	0.34837	0.151000	0.21798	.	.	0.322000	0.23283	0.533000	0.62120	TAT	ZNF354A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169131		0.363	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354A	HGNC	protein_coding	OTTHUMT00000253481.1	-	0.00	28	0	T	NM_005649		178139089	-1	tier1	-	no_errors	ENST00000335815	ensembl	human	known	74_37	missense	57.89	15	22	SNP	0.922	C
ZNF404	342908	genome.wustl.edu	37	19	44378184	44378185	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:44378184_44378185insT	ENST00000587539.1	-	3	180_181	c.181_182insA	c.(181-183)agafs	p.R61fs	ZNF404_ENST00000324394.6_Frame_Shift_Ins_p.R59fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TTCATAATTTCTTTTTTCTGAA	0.327																																																	0																																										SO:0001589	frameshift_variant	0			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.182dupA	19.37:g.44378190_44378190dupT	ENSP00000466051:p.Arg61fs		A4FU30|K7ELF2	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R61fs	ENST00000587539.1	37	c.182_181	CCDS59394.1	19																																																																																			ZNF404	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000176222		0.327	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	HGNC	protein_coding	OTTHUMT00000460019.1		0.00	20	0	-	NM_001033719		44378185	-1	tier1		no_errors	ENST00000587539	ensembl	human	known	74_37	frame_shift_ins	50.00	9	9	INS	0.000:0.004	T
ZNF410	57862	genome.wustl.edu	37	14	74371780	74371780	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr14:74371780C>T	ENST00000555044.1	+	7	1101	c.907C>T	c.(907-909)Cac>Tac	p.H303Y	ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.H250Y|RP5-1021I20.6_ENST00000602874.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.H320Y|ZNF410_ENST00000324593.6_Missense_Mutation_p.H303Y|RP5-1021I20.5_ENST00000554009.1_RNA|Y_RNA_ENST00000362602.1_RNA|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.H230Y	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CCGGCGCATCCACACAGGTGT	0.507																																																	0													87.0	77.0	81.0					14																	74371780		2203	4300	6503	SO:0001583	missense	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.907C>T	14.37:g.74371780C>T	ENSP00000451763:p.His303Tyr		B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H303Y	ENST00000555044.1	37	c.907	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012343	0.54468	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000554316	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.52	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000336	D	0.86406	0.5925	H	0.95114	3.625	0.80722	D	1	B;D;D;B;B;B	0.69078	0.071;0.997;0.976;0.008;0.4;0.01	B;D;D;B;B;B	0.80764	0.064;0.994;0.979;0.009;0.113;0.015	D	0.89690	0.3897	10	0.87932	D	0	.	14.941	0.70994	0.0:0.9304:0.0:0.0696	.	303;230;320;303;292;303	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4	.;.;.;.;.;ZN410_HUMAN	Y	230;303;292;320;303;250;34	ENSP00000442228:H230Y;ENSP00000323293:H303Y;ENSP00000407130:H320Y;ENSP00000451763:H303Y;ENSP00000334170:H250Y;ENSP00000451748:H34Y	ENSP00000323293:H303Y	H	+	1	0	ZNF410	73441533	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.618000	0.67722	2.873000	0.98535	0.563000	0.77884	CAC	ZNF410	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000119725		0.507	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	-	0.00	34	0	C	NM_021188		74371780	+1	tier1	-	no_errors	ENST00000555044	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	T
ZNF519	162655	genome.wustl.edu	37	18	14105961	14105961	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr18:14105961G>C	ENST00000590202.1	-	3	730	c.578C>G	c.(577-579)tCc>tGc	p.S193C	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	193					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AAGCTTTGAGGATTGGTAAAA	0.284																																																	0													40.0	42.0	41.0					18																	14105961		2189	4271	6460	SO:0001583	missense	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.578C>G	18.37:g.14105961G>C	ENSP00000464872:p.Ser193Cys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S193C	ENST00000590202.1	37	c.578	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	G	6.355	0.433589	0.12045	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23289	0.0563	L	0.43554	1.36	0.09310	N	1	P	0.34562	0.457	B	0.30716	0.119	T	0.09250	-1.0683	8	0.40728	T	0.16	.	3.568	0.07907	0.2498:0.4955:0.2547:0.0	.	193	Q8TB69	ZN519_HUMAN	C	193	.	ENSP00000307908:S193C	S	-	2	0	ZNF519	14095961	0.000000	0.05858	0.000000	0.03702	0.281000	0.26958	-3.252000	0.00539	-1.189000	0.02702	0.089000	0.15464	TCC	ZNF519	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175322		0.284	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	-	0.00	21	0	G	NM_145287		14105961	-1	tier1	-	no_errors	ENST00000590202	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.000	C
ZNF780B	163131	genome.wustl.edu	37	19	40542336	40542336	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:40542336T>C	ENST00000434248.1	-	5	495	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	ZNF780B_ENST00000221355.6_5'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATAGCTGATGATCTTCTGG	0.373																																																	0													122.0	126.0	125.0					19																	40542336		2172	4288	6460	SO:0001583	missense	0			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.430A>G	19.37:g.40542336T>C	ENSP00000391641:p.Ile144Val		B9EH00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I144V	ENST00000434248.1	37	c.430	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	T	7.091	0.572203	0.13623	.	.	ENSG00000128000	ENST00000434248	T	0.04862	3.54	2.44	1.33	0.21861	.	.	.	.	.	T	0.10165	0.0249	L	0.32530	0.975	0.09310	N	0.999998	P	0.48640	0.913	P	0.61592	0.891	T	0.31530	-0.9940	9	0.16420	T	0.52	.	6.3324	0.21276	0.0:0.0:0.2543:0.7457	.	144	Q9Y6R6	Z780B_HUMAN	V	144	ENSP00000391641:I144V	ENSP00000391641:I144V	I	-	1	0	ZNF780B	45234176	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.078000	0.14761	0.059000	0.16252	0.260000	0.18958	ATC	ZNF780B	-	NULL	ENSG00000128000		0.373	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	-	0.00	73	0	T	NM_001005851		40542336	-1	tier1	-	no_errors	ENST00000434248	ensembl	human	known	74_37	missense	37.50	55	33	SNP	0.000	C
ZNF99	7652	genome.wustl.edu	37	19	22941211	22941211	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:22941211C>A	ENST00000596209.1	-	4	1590	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	ZNF99_ENST00000397104.3_Missense_Mutation_p.K409N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGAATTACCTTATGTACAG	0.348																																																	0													42.0	43.0	43.0					19																	22941211		2048	4212	6260	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1500G>T	19.37:g.22941211C>A	ENSP00000472969:p.Lys500Asn		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K409N	ENST00000596209.1	37	c.1227	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	11.35	1.611737	0.28712	.	.	ENSG00000213973	ENST00000397104	T	0.07688	3.17	1.16	-0.589	0.11683	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15739	0.0379	M	0.76838	2.35	0.24492	N	0.994299	P	0.49696	0.927	P	0.51701	0.677	T	0.11299	-1.0593	9	0.72032	D	0.01	.	3.4763	0.07586	0.0:0.543:0.2679:0.1891	.	409	A8MXY4	ZNF99_HUMAN	N	409	ENSP00000380293:K409N	ENSP00000380293:K409N	K	-	3	2	ZNF99	22733051	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.589000	0.05767	-0.342000	0.08363	0.194000	0.17425	AAG	ZNF99	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0.00	60	0	C	XM_065124		22941211	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.994	A
ZNF880	400713	genome.wustl.edu	37	19	52877708	52877708	+	Intron	SNP	G	G	T	rs574158252	byFrequency	TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:52877708G>T	ENST00000422689.2	+	3	283				ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000597976.1_Missense_Mutation_p.G99V|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CAGAGTGGAGGCCCCATAAtt	0.478																																																	0													42.0	36.0	38.0					19																	52877708		692	1591	2283	SO:0001627	intron_variant	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+28G>T	19.37:g.52877708G>T			B4DNA6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.G99V	ENST00000422689.2	37	c.296	CCDS46164.1	19																																																																																			ZNF880	-	NULL	ENSG00000221923		0.478	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0.00	14	0	G	NM_001145434		52877708	+1	tier1	-	no_errors	ENST00000597976	ensembl	human	putative	74_37	missense	43.75	9	7	SNP	0.001	T
ZNF816	125893	genome.wustl.edu	37	19	53454471	53454471	+	Missense_Mutation	SNP	G	G	C	rs200901929|rs79566976		TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr19:53454471G>C	ENST00000357666.4	-	5	857	c.557C>G	c.(556-558)gCt>gGt	p.A186G	ZNF816_ENST00000444460.2_Missense_Mutation_p.A186G|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AGCTGAGGAAGCACCGATAGA	0.373																																																	0													89.0	112.0	104.0					19																	53454471		2202	4300	6502	SO:0001583	missense	0			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.557C>G	19.37:g.53454471G>C	ENSP00000350295:p.Ala186Gly		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A186G	ENST00000357666.4	37	c.557	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	1.630	-0.519183	0.04171	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.05649	3.41;3.41	1.58	0.318	0.15867	.	.	.	.	.	T	0.08758	0.0217	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	D	0.75020	0.985	T	0.35624	-0.9781	9	0.15952	T	0.53	.	5.7046	0.17901	0.0:0.4142:0.5858:0.0	.	186	Q0VGE8	ZN816_HUMAN	G	186	ENSP00000350295:A186G;ENSP00000403266:A186G	ENSP00000350295:A186G	A	-	2	0	ZNF816	58146283	0.000000	0.05858	0.002000	0.10522	0.176000	0.22953	-0.783000	0.04638	-0.053000	0.13289	0.185000	0.17295	GCT	ZNF816	-	NULL	ENSG00000180257		0.373	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1		0.00	36	0	G	NM_001031665		53454471	-1			no_errors	ENST00000357666	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.001	C
ZNRD1	30834	genome.wustl.edu	37	6	30026425	30026425	+	5'Flank	SNP	A	A	C			TCGA-LN-A4A6-01A-11D-A27G-09	TCGA-LN-A4A6-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ce18b729-6af2-4371-8304-69367a65a0ba	a5d81bfd-d31b-4946-9784-ef26c8d85ee9	g.chr6:30026425A>C	ENST00000332435.5	+	0	0				ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1_ENST00000359374.4_5'Flank|ZNRD1_ENST00000376785.2_5'Flank|ZNRD1-AS1_ENST00000422224.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000431012.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000452229.1_RNA|ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1_ENST00000376782.2_5'Flank|ZNRD1-AS1_ENST00000420251.1_RNA	NM_170783.2	NP_740753.1	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1						nucleobase-containing compound metabolic process (GO:0006139)|termination of RNA polymerase I transcription (GO:0006363)	DNA-directed RNA polymerase I complex (GO:0005736)	DNA-directed RNA polymerase activity (GO:0003899)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										AAATTCTGTTATTTGACTGCT	0.448																																																	0																																										SO:0001631	upstream_gene_variant	0			AF024617	CCDS4670.1	6p21	2011-02-18	2006-04-04		ENSG00000066379	ENSG00000066379			13182	protein-coding gene	gene with protein product		607525	"""zinc ribbon domain containing, 1"""			8938444, 10662553	Standard	NM_170783		Approved	hZR14, HTEX-6, tctex-6, RPA12	uc003npa.3	Q9P1U0	OTTHUMG00000031149		6.37:g.30026425A>C	Exception_encountered			RNA	SNP	-	NULL	ENST00000332435.5	37	NULL	CCDS4670.1	6																																																																																			ZNRD1-AS1	-	-	ENSG00000204623		0.448	ZNRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRD1-AS1	HGNC	protein_coding	OTTHUMT00000076272.2		0.00	12	0	A			30026425	-1			no_errors	ENST00000422224	ensembl	human	known	74_37	rna	30.77	9	4	SNP	0.002	C
