#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
AATK	9625	genome.wustl.edu	37	17	79139525	79139525	+	Intron	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:79139525C>T	ENST00000326724.4	-	1	80				AATK-AS1_ENST00000571031.1_RNA|AATK-AS1_ENST00000414089.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase						brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACGCGGGGGACGCCAGCCCAC	0.721																																																	0													16.0	17.0	17.0					17																	79139525		690	1588	2278	SO:0001627	intron_variant	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.55+212G>A	17.37:g.79139525C>T			O75136|Q6ZN31|Q86X28	RNA	SNP	-	NULL	ENST00000326724.4	37	NULL	CCDS45807.1	17																																																																																			AATK-AS1	-	-	ENSG00000225180		0.721	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK-AS1	HGNC	protein_coding	OTTHUMT00000256055.1		0.00	32	0	C	NM_004920		79139525	+1			no_errors	ENST00000414089	ensembl	human	known	74_37	rna	21.28	37	10	SNP	0.001	T
ABCB11	8647	genome.wustl.edu	37	2	169801231	169801231	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:169801231G>T	ENST00000263817.6	-	21	2618	c.2494C>A	c.(2494-2496)Cgt>Agt	p.R832S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	832	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCAAATTTACGTAGCCTTTTT	0.408																																																	0			GRCh37	CM067617	ABCB11	M							110.0	101.0	104.0					2																	169801231		1852	4091	5943	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2494C>A	2.37:g.169801231G>T	ENSP00000263817:p.Arg832Ser		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R832S	ENST00000263817.6	37	c.2494	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996368	0.74818	.	.	ENSG00000073734	ENST00000263817	D	0.86627	-2.15	5.96	5.07	0.68467	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.086037	0.64402	D	0.000002	D	0.95242	0.8457	H	0.95402	3.665	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.73708	0.981;0.959	D	0.96373	0.9275	10	0.87932	D	0	.	14.3445	0.66651	0.0:0.0:0.6773:0.3227	.	274;832	B4DZQ8;O95342	.;ABCBB_HUMAN	S	832	ENSP00000263817:R832S	ENSP00000263817:R832S	R	-	1	0	ABCB11	169509477	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.293000	0.51779	1.480000	0.48289	0.650000	0.86243	CGT	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000073734		0.408	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2		0.00	35	0	G	NM_003742		169801231	-1			no_errors	ENST00000263817	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.998	T
ACACB	32	genome.wustl.edu	37	12	109675106	109675106	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:109675106A>C	ENST00000338432.7	+	34	4702	c.4583A>C	c.(4582-4584)aAg>aCg	p.K1528T	ACACB_ENST00000377854.5_Missense_Mutation_p.K1458T|ACACB_ENST00000377848.3_Missense_Mutation_p.K1528T|ACACB_ENST00000543201.1_Missense_Mutation_p.K194T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1528					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGTGCTGCCAAGGTGAAGGAA	0.547																																																	0													169.0	125.0	140.0					12																	109675106		2203	4300	6503	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4583A>C	12.37:g.109675106A>C	ENSP00000341044:p.Lys1528Thr		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.K1528T	ENST00000338432.7	37	c.4583	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648573	0.67358	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.76	-0.553	0.11815	Acetyl-CoA carboxylase, central domain (1);	0.234553	0.42682	D	0.000680	T	0.63105	0.2483	M	0.83223	2.63	0.36436	D	0.865219	D	0.53885	0.963	P	0.61003	0.882	T	0.71283	-0.4639	10	0.87932	D	0	.	10.8785	0.46925	0.4936:0.0:0.5064:0.0	.	1528	O00763	ACACB_HUMAN	T	1528;1528;1458;759;194	ENSP00000341044:K1528T;ENSP00000367079:K1528T;ENSP00000367085:K1458T;ENSP00000444075:K194T	ENSP00000341044:K1528T	K	+	2	0	ACACB	108159489	0.347000	0.24853	0.974000	0.42286	0.949000	0.60115	1.164000	0.31810	0.010000	0.14839	-0.441000	0.05720	AAG	ACACB	-	pfam_AcCoA_COase_cen	ENSG00000076555		0.547	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1		0.00	54	0	A	NM_001093		109675106	+1			no_errors	ENST00000338432	ensembl	human	known	74_37	missense	13.46	45	7	SNP	0.981	C
ACTRT1	139741	genome.wustl.edu	37	X	127185461	127185461	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:127185461C>G	ENST00000371124.3	-	1	921	c.725G>C	c.(724-726)aGa>aCa	p.R242T		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	242						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATCTGGCAGTCTGTATGCTCC	0.542																																																	0													133.0	120.0	124.0					X																	127185461		2203	4300	6503	SO:0001583	missense	0			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.725G>C	X.37:g.127185461C>G	ENSP00000360165:p.Arg242Thr		Q6X7C1|Q96L10	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R242T	ENST00000371124.3	37	c.725	CCDS14611.1	X	.	.	.	.	.	.	.	.	.	.	C	0.462	-0.888805	0.02511	.	.	ENSG00000123165	ENST00000371124	D	0.94092	-3.35	3.58	-7.15	0.01521	.	1.108940	0.06996	N	0.822476	T	0.78898	0.4356	N	0.02266	-0.62	0.09310	N	0.999998	B	0.16166	0.016	B	0.12156	0.007	T	0.67488	-0.5658	10	0.87932	D	0	.	3.8449	0.08930	0.181:0.448:0.1706:0.2004	.	242	Q8TDG2	ACTT1_HUMAN	T	242	ENSP00000360165:R242T	ENSP00000360165:R242T	R	-	2	0	ACTRT1	127013142	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.842000	0.04354	-4.448000	0.00048	-0.912000	0.02778	AGA	ACTRT1	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000123165		0.542	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT1	HGNC	protein_coding	OTTHUMT00000058192.1		0.00	20	0	C	NM_138289		127185461	-1			no_errors	ENST00000371124	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.282	G
ADAM21P1	145241	genome.wustl.edu	37	14	70714300	70714300	+	RNA	SNP	A	A	G	rs112607032	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:70714300A>G	ENST00000530196.1	-	0	218					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GACAGTAGCCAGAAATAGACA	0.532																																																	0																																												0					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714300A>G				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-	ENSG00000235812		0.532	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1		0.00	24	0	A	NG_002467		70714300	-1			no_errors	ENST00000530196	ensembl	human	known	74_37	rna	17.14	29	6	SNP	0.000	G
ADO	84890	genome.wustl.edu	37	10	64565449	64565449	+	Silent	SNP	G	G	A	rs370967109		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:64565449G>A	ENST00000373783.1	+	1	934	c.630G>A	c.(628-630)ccG>ccA	p.P210P	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	210						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCCTGGCCCCGCCCTACGACC	0.701																																																	0								G		1,4397		0,1,2198	22.0	21.0	21.0		630	0.8	1.0	10		21	0,8594		0,0,4297	no	coding-synonymous	ADO	NM_032804.5		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		210/271	64565449	1,12991	2199	4297	6496	SO:0001819	synonymous_variant	0			BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"""cysteamine dioxygenase"""	611392	"""chromosome 10 open reading frame 22"""	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.630G>A	10.37:g.64565449G>A			B1AL29	Silent	SNP	pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.P210	ENST00000373783.1	37	c.630	CCDS7266.2	10																																																																																			ADO	-	pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	ENSG00000181915		0.701	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADO	HGNC	protein_coding	OTTHUMT00000048243.2		0.00	24	0	G	NM_032804		64565449	+1			no_errors	ENST00000373783	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.970	A
AGRN	375790	genome.wustl.edu	37	1	982784	982784	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:982784G>T	ENST00000379370.2	+	20	3516	c.3466G>T	c.(3466-3468)Gac>Tac	p.D1156Y		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1156	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGAGATGGCTGACCCCAAGTC	0.647																																																	0													54.0	56.0	56.0					1																	982784		2203	4300	6503	SO:0001583	missense	0			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.3466G>T	1.37:g.982784G>T	ENSP00000368678:p.Asp1156Tyr		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom	p.D1156Y	ENST00000379370.2	37	c.3466	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692565	0.68271	.	.	ENSG00000188157	ENST00000379370	T	0.47528	0.84	4.16	4.16	0.48862	SEA (3);	0.000000	0.64402	D	0.000002	T	0.58864	0.2152	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63519	-0.6619	10	0.62326	D	0.03	-44.9317	17.0319	0.86463	0.0:0.0:1.0:0.0	.	1156	O00468	AGRIN_HUMAN	Y	1156	ENSP00000368678:D1156Y	ENSP00000368678:D1156Y	D	+	1	0	AGRN	972647	1.000000	0.71417	0.989000	0.46669	0.441000	0.31987	7.232000	0.78116	2.336000	0.79503	0.550000	0.68814	GAC	AGRN	-	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	ENSG00000188157		0.647	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2		0.00	21	0	G	NM_198576		982784	+1			no_errors	ENST00000379370	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	T
AKT1	207	genome.wustl.edu	37	14	105241542	105241542	+	Silent	SNP	G	G	T	rs145780379	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:105241542G>T	ENST00000554581.1	-	5	1918	c.438C>A	c.(436-438)acC>acA	p.T146T	AKT1_ENST00000544168.1_Silent_p.T84T|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000402615.2_Silent_p.T146T|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000554848.1_Silent_p.T146T|AKT1_ENST00000407796.2_Silent_p.T146T|AKT1_ENST00000555528.1_Silent_p.T146T|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_Silent_p.T146T			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	146					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	ACTCGTTCATGGTCTATGGGC	0.622		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0													66.0	57.0	60.0					14																	105241542		2203	4300	6503	SO:0001819	synonymous_variant	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.438C>A	14.37:g.105241542G>T			B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.T146	ENST00000554581.1	37	c.438	CCDS9994.1	14																																																																																			AKT1	-	superfamily_Kinase-like_dom	ENSG00000142208		0.622	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1		0.00	42	0	G	NM_005163		105241542	-1			no_errors	ENST00000349310	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.999	T
ALDH1L2	160428	genome.wustl.edu	37	12	105433542	105433542	+	Missense_Mutation	SNP	C	C	T	rs143830632		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:105433542C>T	ENST00000258494.9	-	17	2134	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	665	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCAAGTTTGCGGATGTCAGG	0.443																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	183.0	166.0	172.0		1994	5.7	1.0	12	dbSNP_134	172	0,8600		0,0,4300	yes	missense	ALDH1L2	NM_001034173.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	665/924	105433542	1,13005	2203	4300	6503	SO:0001583	missense	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1994G>A	12.37:g.105433542C>T	ENSP00000258494:p.Arg665His		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.R665H	ENST00000258494.9	37	c.1994	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.420098	0.96111	2.27E-4	0.0	ENSG00000136010	ENST00000258494	T	0.17054	2.3	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.02942	-1.1091	10	0.66056	D	0.02	.	19.8383	0.96670	0.0:1.0:0.0:0.0	.	665	Q3SY69	AL1L2_HUMAN	H	665	ENSP00000258494:R665H	ENSP00000258494:R665H	R	-	2	0	ALDH1L2	103957672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.738000	0.84966	2.683000	0.91414	0.650000	0.86243	CGC	ALDH1L2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000136010		0.443	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1		0.00	34	0	C	XM_090294		105433542	-1			no_errors	ENST00000258494	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T
ALDH3A2	224	genome.wustl.edu	37	17	19575092	19575092	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:19575092G>T	ENST00000176643.6	+	9	1712	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H	ALDH3A2_ENST00000579855.1_Missense_Mutation_p.Q422H|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.Q422H|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.Q422H|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.Q422H			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	422					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)	p.Q422Q(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TTTCTCATCAGCGTCCCTGTT	0.393																																																	1	Substitution - coding silent(1)	endometrium(1)											106.0	110.0	109.0					17																	19575092		2203	4300	6503	SO:0001583	missense	0			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1266G>T	17.37:g.19575092G>T	ENSP00000176643:p.Gln422His		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.Q422H	ENST00000176643.6	37	c.1266	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722748	0.30503	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.84298	-1.83;-1.83;-1.83	6.06	-9.57	0.00562	Aldehyde/histidinol dehydrogenase (1);	0.939962	0.09185	N	0.836917	T	0.61048	0.2316	N	0.12746	0.255	0.39896	D	0.973837	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.22487	-1.0215	10	0.13853	T	0.58	-0.1489	5.3547	0.16055	0.1242:0.24:0.476:0.1598	.	422;422	P51648;P51648-2	AL3A2_HUMAN;.	H	422	ENSP00000176643:Q422H;ENSP00000378942:Q422H;ENSP00000345774:Q422H	ENSP00000176643:Q422H	Q	+	3	2	ALDH3A2	19515684	0.000000	0.05858	0.383000	0.26132	0.985000	0.73830	-2.082000	0.01365	-1.215000	0.02610	-0.355000	0.07637	CAG	ALDH3A2	-	superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000072210		0.393	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1		0.00	57	0	G			19575092	+1			no_errors	ENST00000339618	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.009	T
ALDH3A1	218	genome.wustl.edu	37	17	19646639	19646639	+	Silent	SNP	G	G	A	rs11554974		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:19646639G>A	ENST00000457500.2	-	2	629	c.300C>T	c.(298-300)atC>atT	p.I100I	ALDH3A1_ENST00000444455.1_Silent_p.I100I|ALDH3A1_ENST00000225740.6_Silent_p.I100I|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000494157.2_Silent_p.I27I|ALDH3A1_ENST00000395555.3_Silent_p.I100I	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	100					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GCTCCGAGTGGATGTAGAGCT	0.612																																																	0													117.0	101.0	107.0					17																	19646639		2203	4300	6503	SO:0001819	synonymous_variant	0			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.300C>T	17.37:g.19646639G>A			A8K828|Q9BT37	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.I100	ENST00000457500.2	37	c.300	CCDS11212.1	17																																																																																			ALDH3A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000108602		0.612	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	HGNC	protein_coding	OTTHUMT00000132265.4		0.00	31	0	G	NM_000691		19646639	-1			no_errors	ENST00000225740	ensembl	human	known	74_37	silent	25.00	21	7	SNP	1.000	A
ANKRD13D	338692	genome.wustl.edu	37	11	67068552	67068552	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:67068552G>A	ENST00000447274.2	+	11	2079	c.904G>A	c.(904-906)Gct>Act	p.A302T	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A389T|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A302T|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A302T|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.A39T|SSH3_ENST00000308298.7_5'Flank|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	302						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.A302T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CATCAGCAACGCTCACTTTGC	0.607																																																	1	Substitution - Missense(1)	ovary(1)											156.0	129.0	138.0					11																	67068552		2200	4295	6495	SO:0001583	missense	0			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.904G>A	11.37:g.67068552G>A	ENSP00000402616:p.Ala302Thr		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.A389T	ENST00000447274.2	37	c.1165		11	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477916	0.63849	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.28192	0.835	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.82;0.743	D;P;B	0.79108	0.992;0.496;0.362	T	0.25950	-1.0117	10	0.22706	T	0.39	-18.6775	12.8467	0.57833	0.0:0.0:0.8369:0.1631	.	39;389;302	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	T	302;389;302;302;39	ENSP00000402616:A302T;ENSP00000427130:A389T;ENSP00000310874:A302T;ENSP00000444404:A302T;ENSP00000443977:A39T	ENSP00000310874:A302T	A	+	1	0	ANKRD13D	66825128	1.000000	0.71417	0.968000	0.41197	0.762000	0.43233	9.630000	0.98420	2.517000	0.84864	0.561000	0.74099	GCT	ANKRD13D	-	pfam_ANKRD13	ENSG00000172932		0.607	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2		0.00	15	0	G	NM_207354		67068552	+1			no_errors	ENST00000511455	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A
ANKRD42	338699	genome.wustl.edu	37	11	82921358	82921358	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:82921358G>T	ENST00000393392.2	+	4	425	c.263G>T	c.(262-264)gGa>gTa	p.G88V	RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G116V|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G3V|ANKRD42_ENST00000526731.1_Missense_Mutation_p.G116V|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G116V|ANKRD42_ENST00000393389.3_Missense_Mutation_p.G116V|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G116V	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	88					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATAATGAATGGAGCAAATCTG	0.388																																																	0													105.0	106.0	105.0					11																	82921358		2203	4300	6503	SO:0001583	missense	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.263G>T	11.37:g.82921358G>T	ENSP00000377051:p.Gly88Val		Q49A49	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G88V	ENST00000393392.2	37	c.263	CCDS8265.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365893	0.82463	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000528722;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;D;T;T;T;T;T	0.86865	-0.72;-2.18;-0.72;-0.72;-0.72;-0.72;-0.72	5.89	5.89	0.94794	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000006	D	0.96144	0.8743	H	0.96777	3.88	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97028	0.9748	9	.	.	.	-8.9873	19.0291	0.92948	0.0:0.0:1.0:0.0	.	116;116;381;207;88	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	V	435;116;3;116;116;116;88;116	ENSP00000377049:G116V;ENSP00000432375:G3V;ENSP00000260047:G116V;ENSP00000433585:G116V;ENSP00000434666:G116V;ENSP00000377051:G88V;ENSP00000435790:G116V	.	G	+	2	0	ANKRD42	82599006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.449000	0.73473	2.783000	0.95769	0.655000	0.94253	GGA	ANKRD42	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137494		0.388	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1		0.00	62	0	G	NM_182603		82921358	+1			no_errors	ENST00000393392	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
ANKUB1	389161	genome.wustl.edu	37	3	149498106	149498106	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:149498106A>G	ENST00000383050.3	-	3	827	c.371T>C	c.(370-372)gTg>gCg	p.V124A	ANKUB1_ENST00000462519.2_Missense_Mutation_p.V124A|ANKUB1_ENST00000446160.1_Missense_Mutation_p.V124A|RNU6-507P_ENST00000516045.1_RNA			A6NFN9	ANKUB_HUMAN	ankyrin repeat and ubiquitin domain containing 1	124										breast(1)|kidney(1)|lung(1)|skin(1)	4						GTAGACACTCACGGGGAGGCC	0.473																																																	0													220.0	180.0	192.0					3																	149498106		692	1591	2283	SO:0001583	missense	0			AK027233		3q25.1	2013-01-11	2011-05-10	2011-05-10	ENSG00000206199	ENSG00000206199		"""Ankyrin repeat domain containing"""	29642	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 16"""	C3orf16			Standard	NM_001144960		Approved		uc003exl.3	A6NFN9	OTTHUMG00000159615	ENST00000383050.3:c.371T>C	3.37:g.149498106A>G	ENSP00000372522:p.Val124Ala		B4E2N8	Splice_Site	SNP	-	e2+2	ENST00000383050.3	37	c.120+2		3	.	.	.	.	.	.	.	.	.	.	A	8.845	0.943239	0.18281	.	.	ENSG00000206199	ENST00000446160;ENST00000383050;ENST00000462519	T;T;T	0.27557	1.66;1.67;1.68	5.11	5.11	0.69529	.	0.206543	0.29653	N	0.011560	T	0.32376	0.0827	M	0.64997	1.995	0.27740	N	0.94451	B;B	0.33612	0.419;0.199	B;B	0.35278	0.199;0.049	T	0.32693	-0.9897	10	0.49607	T	0.09	-0.0647	10.8039	0.46504	0.8415:0.1585:0.0:0.0	.	75;124	B3KUW6;E9PHT4	.;.	A	124	ENSP00000387907:V124A;ENSP00000372522:V124A;ENSP00000417635:V124A	ENSP00000372522:V124A	V	-	2	0	ANKUB1	150980796	0.997000	0.39634	0.956000	0.39512	0.085000	0.17905	3.468000	0.53086	2.059000	0.61396	0.455000	0.32223	GTG	ANKUB1	-	-	ENSG00000206199		0.473	ANKUB1-201	KNOWN	basic	protein_coding	ANKUB1	HGNC	protein_coding			0.00	41	0	A	NM_001144960		149498106	-1			no_errors	ENST00000484019	ensembl	human	known	74_37	splice_site	11.46	85	11	SNP	0.987	G
ARSE	415	genome.wustl.edu	37	X	2861176	2861176	+	Silent	SNP	C	C	T	rs187110605		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:2861176C>T	ENST00000381134.3	-	8	1122	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	ARSE_ENST00000540563.1_Silent_p.S307S|ARSE_ENST00000545496.1_Silent_p.S377S	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	352					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCCGTGATCCGACGTAAAAT	0.473													C|||	2	0.000529801	0.0	0.0	3775	,	,		14096	0.002		0.0	False		,,,				2504	0.0																0													86.0	79.0	82.0					X																	2861176		2203	4300	6503	SO:0001819	synonymous_variant	0			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1056G>A	X.37:g.2861176C>T			Q53FT2|Q53FU8	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S377	ENST00000381134.3	37	c.1131	CCDS14122.1	X																																																																																			ARSE	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000157399		0.473	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSE	HGNC	protein_coding	OTTHUMT00000055643.1		0.00	30	0	C	NM_000047		2861176	-1			no_errors	ENST00000545496	ensembl	human	known	74_37	silent	75.00	6	18	SNP	0.893	T
ASNS	440	genome.wustl.edu	37	7	97493669	97493669	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:97493669T>C	ENST00000394309.3	-	4	860	c.389A>G	c.(388-390)aAt>aGt	p.N130S	ASNS_ENST00000175506.4_Missense_Mutation_p.N130S|ASNS_ENST00000444334.1_Missense_Mutation_p.N109S|ASNS_ENST00000437628.1_Missense_Mutation_p.N47S|ASNS_ENST00000422745.1_Missense_Mutation_p.N109S|ASNS_ENST00000455086.1_Missense_Mutation_p.N47S|ASNS_ENST00000394308.3_Missense_Mutation_p.N130S	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	130	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CACTTTCTTATTGGCAGTATC	0.373																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0													65.0	59.0	61.0					7																	97493669		2203	4299	6502	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.389A>G	7.37:g.97493669T>C	ENSP00000377846:p.Asn130Ser		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.N130S	ENST00000394309.3	37	c.389	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	T	10.23	1.294288	0.23564	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734;ENST00000437657	T;T;T;T;T;T;T;T	0.42131	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.98	4.19	1.7	0.24286	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.094800	0.64402	N	0.000001	T	0.29423	0.0733	L	0.41573	1.285	0.53688	D	0.999977	B	0.02656	0.0	B	0.06405	0.002	T	0.07673	-1.0760	10	0.54805	T	0.06	-23.4444	5.8769	0.18834	0.0:0.0925:0.1665:0.741	.	130	P08243	ASNS_HUMAN	S	130;130;47;130;109;47;109;130;130	ENSP00000175506:N130S;ENSP00000377846:N130S;ENSP00000414379:N47S;ENSP00000377845:N130S;ENSP00000414901:N109S;ENSP00000408472:N47S;ENSP00000406994:N109S;ENSP00000400422:N130S	ENSP00000175506:N130S	N	-	2	0	ASNS	97331605	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	2.805000	0.47939	0.249000	0.21456	-0.386000	0.06593	AAT	ASNS	-	pfam_GATase_dom,tigrfam_Asn_synth_AEB	ENSG00000070669		0.373	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1		0.00	30	0	T	NM_001673, NM_183356		97493669	-1			no_errors	ENST00000175506	ensembl	human	known	74_37	missense	52.94	24	27	SNP	1.000	C
ATP11C	286410	genome.wustl.edu	37	X	138864830	138864830	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:138864830T>C	ENST00000327569.3	-	18	1935	c.1837A>G	c.(1837-1839)Aga>Gga	p.R613G	ATP11C_ENST00000359686.2_Missense_Mutation_p.R613G|ATP11C_ENST00000370543.1_Missense_Mutation_p.R613G|ATP11C_ENST00000361648.2_Missense_Mutation_p.R613G|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Missense_Mutation_p.R610G	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	613					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTGTTAATTCTTTCATAATCA	0.343																																																	0													93.0	82.0	86.0					X																	138864830		2203	4299	6502	SO:0001583	missense	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1837A>G	X.37:g.138864830T>C	ENSP00000332756:p.Arg613Gly		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R613G	ENST00000327569.3	37	c.1837	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311488	0.23821	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.68	3.26	0.37387	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.896184	0.09878	N	0.744063	T	0.48822	0.1521	N	0.16166	0.38	0.23991	N	0.996244	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37686	-0.9695	10	0.42905	T	0.14	.	8.7878	0.34832	0.0:0.1586:0.0:0.8414	.	613;613	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	G	610;613;613;613;613	ENSP00000359588:R610G;ENSP00000355165:R613G;ENSP00000332756:R613G;ENSP00000359574:R613G;ENSP00000352715:R613G	ENSP00000332756:R613G	R	-	1	2	ATP11C	138692496	0.079000	0.21365	0.868000	0.34077	0.950000	0.60333	0.866000	0.27954	0.782000	0.33613	0.481000	0.45027	AGA	ATP11C	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000101974		0.343	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1		0.00	46	0	T	NM_173694		138864830	-1			no_errors	ENST00000327569	ensembl	human	known	74_37	missense	83.05	10	49	SNP	0.416	C
ATXN1L	342371	genome.wustl.edu	37	16	71885540	71885540	+	Missense_Mutation	SNP	C	C	T	rs566942971		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:71885540C>T	ENST00000427980.2	+	3	2190	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C	ATXN1L_ENST00000569119.1_Intron	NM_001137675.3	NP_001131147.1	P0C7T5	ATX1L_HUMAN	ataxin 1-like	633					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)	4						AGAGGGCTCCCGTGTGGTAGA	0.652																																																	0													18.0	24.0	22.0					16																	71885540		692	1591	2283	SO:0001583	missense	0				CCDS45523.1	16q22.2	2014-09-04			ENSG00000224470	ENSG00000224470			33279	protein-coding gene	gene with protein product	"""brother of ataxin 1"""	614301				16121196, 17322884, 21475249	Standard	NM_001137675		Approved	BOAT1	uc002fbd.3	P0C7T5	OTTHUMG00000176872	ENST00000427980.2:c.1897C>T	16.37:g.71885540C>T	ENSP00000415822:p.Arg633Cys			Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.R633C	ENST00000427980.2	37	c.1897	CCDS45523.1	16	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453294	0.43531	.	.	ENSG00000224470	ENST00000427980	T	0.33216	1.42	5.7	4.65	0.58169	.	.	.	.	.	T	0.22513	0.0543	N	0.22421	0.69	0.29737	N	0.837436	B	0.02656	0.0	B	0.01281	0.0	T	0.13045	-1.0524	9	0.66056	D	0.02	2.4557	10.8737	0.46899	0.0:0.8463:0.0:0.1537	.	633	P0C7T5	ATX1L_HUMAN	C	633	ENSP00000415822:R633C	ENSP00000415822:R633C	R	+	1	0	ATXN1L	70443041	0.000000	0.05858	0.873000	0.34254	0.940000	0.58332	0.371000	0.20450	1.401000	0.46761	0.555000	0.69702	CGT	ATXN1L	-	NULL	ENSG00000224470		0.652	ATXN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1L	HGNC	protein_coding	OTTHUMT00000434171.1		0.00	18	0	C	NM_001137675.2		71885540	+1			no_errors	ENST00000427980	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.799	T
B3GALNT1	8706	genome.wustl.edu	37	3	160804342	160804342	+	Silent	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:160804342A>G	ENST00000392781.2	-	8	948	c.201T>C	c.(199-201)ctT>ctC	p.L67L	B3GALNT1_ENST00000488170.1_Silent_p.L67L|B3GALNT1_ENST00000392779.2_Silent_p.L67L|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000473285.1_Silent_p.L67L|B3GALNT1_ENST00000392780.1_Silent_p.L67L|B3GALNT1_ENST00000320474.4_Silent_p.L67L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	67					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AATGCTCTCGAAGTGTGAAGT	0.458																																																	0													99.0	93.0	95.0					3																	160804342		2203	4300	6503	SO:0001819	synonymous_variant	0			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.201T>C	3.37:g.160804342A>G			D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Silent	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.L67	ENST00000392781.2	37	c.201	CCDS3193.1	3																																																																																			B3GALNT1	-	NULL	ENSG00000169255		0.458	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GALNT1	HGNC	protein_coding	OTTHUMT00000353125.1		0.00	62	0	A	NM_033167		160804342	-1			no_errors	ENST00000320474	ensembl	human	known	74_37	silent	8.41	98	9	SNP	0.017	G
B3GNT2	10678	genome.wustl.edu	37	2	62449623	62449623	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:62449623A>G	ENST00000301998.4	+	2	520	c.268A>G	c.(268-270)Ata>Gta	p.I90V	B3GNT2_ENST00000405767.1_Missense_Mutation_p.I90V	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	90					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GCTCTCCAATATAAGCCATCT	0.527																																																	0													244.0	277.0	266.0					2																	62449623		2203	4300	6503	SO:0001583	missense	0			AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.268A>G	2.37:g.62449623A>G	ENSP00000305595:p.Ile90Val		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.I90V	ENST00000301998.4	37	c.268	CCDS1870.1	2	.	.	.	.	.	.	.	.	.	.	A	0.805	-0.753895	0.03041	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.26223	1.75;1.75	5.75	-2.56	0.06268	.	1.103980	0.06685	N	0.768588	T	0.14917	0.0360	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.25106	T	0.35	.	6.9549	0.24565	0.1873:0.1216:0.5722:0.119	.	90	Q9NY97	B3GN2_HUMAN	V	90	ENSP00000305595:I90V;ENSP00000384692:I90V	ENSP00000305595:I90V	I	+	1	0	B3GNT2	62303127	0.000000	0.05858	0.000000	0.03702	0.373000	0.29922	0.236000	0.17967	-0.370000	0.08016	-0.274000	0.10170	ATA	B3GNT2	-	NULL	ENSG00000170340		0.527	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT2	HGNC	protein_coding	OTTHUMT00000251606.2		0.00	10	0	A	NM_006577		62449623	+1			no_errors	ENST00000301998	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.000	G
BTBD16	118663	genome.wustl.edu	37	10	124096188	124096188	+	Nonsense_Mutation	SNP	C	C	A	rs560247372		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:124096188C>A	ENST00000260723.4	+	15	1694	c.1443C>A	c.(1441-1443)tgC>tgA	p.C481*	BTBD16_ENST00000368994.2_Nonsense_Mutation_p.C482*	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	481										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CGTCATCCTGCAAAAGCCATG	0.483																																																	0													144.0	105.0	118.0					10																	124096188		2203	4300	6503	SO:0001587	stop_gained	0			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1443C>A	10.37:g.124096188C>A	ENSP00000260723:p.Cys481*		A6NM63|Q4VXL1|Q96LN0	Nonsense_Mutation	SNP	superfamily_BTB/POZ_fold	p.C482*	ENST00000260723.4	37	c.1446	CCDS31301.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.899874	0.97081	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	.	.	.	5.64	3.8	0.43715	.	0.151008	0.40469	N	0.001100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.9855	8.9507	0.35788	0.0:0.8289:0.0:0.1711	.	.	.	.	X	481;482	.	ENSP00000260723:C481X	C	+	3	2	BTBD16	124086178	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	2.430000	0.44766	0.750000	0.32877	0.655000	0.94253	TGC	BTBD16	-	NULL	ENSG00000138152		0.483	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTBD16	HGNC	protein_coding	OTTHUMT00000050780.3		0.00	17	0	C	NM_144587		124096188	+1			no_errors	ENST00000368994	ensembl	human	known	74_37	nonsense	10.53	17	2	SNP	1.000	A
HEATR9	256957	genome.wustl.edu	37	17	34185496	34185496	+	Missense_Mutation	SNP	G	G	A	rs116758864	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:34185496G>A	ENST00000311880.2	-	10	1121	c.973C>T	c.(973-975)Cac>Tac	p.H325Y	C17orf66_ENST00000592980.1_Missense_Mutation_p.H285Y	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		325					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GGGGCTGAGTGCACGTGCATC	0.577													G|||	6	0.00119808	0.0023	0.0014	5008	,	,		20619	0.0		0.002	False		,,,				2504	0.0																0								G	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	118.0	79.0	92.0		973	1.8	0.5	17	dbSNP_132	92	8,8592	6.4+/-24.3	0,8,4292	yes	missense	C17orf66	NM_152781.2	83	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	probably-damaging	325/571	34185496	9,12997	2203	4300	6503	SO:0001583	missense	0																														ENST00000311880.2:c.973C>T	17.37:g.34185496G>A	ENSP00000309560:p.His325Tyr		B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H325Y	ENST00000311880.2	37	c.973	CCDS11299.1	17	6	0.0027472527472527475	4	0.008130081300813009	0	0.0	0	0.0	2	0.002638522427440633	G	9.495	1.101604	0.20632	2.27E-4	9.3E-4	ENSG00000172653	ENST00000311880	T	0.47869	0.83	4.02	1.84	0.25277	Armadillo-type fold (1);	0.302618	0.24105	N	0.041507	T	0.26846	0.0657	L	0.34521	1.04	0.09310	N	1	P;B;P	0.40332	0.713;0.376;0.59	B;B;B	0.39531	0.302;0.071;0.159	T	0.12344	-1.0551	10	0.59425	D	0.04	.	8.6452	0.34000	0.0:0.0:0.5853:0.4147	.	291;285;325	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	Y	325	ENSP00000309560:H325Y	ENSP00000309560:H325Y	H	-	1	0	C17orf66	31209609	0.892000	0.30473	0.457000	0.27056	0.872000	0.50106	1.140000	0.31516	0.381000	0.24851	0.305000	0.20034	CAC	C17orf66	-	superfamily_ARM-type_fold	ENSG00000172653		0.577	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf66	HGNC	protein_coding	OTTHUMT00000256487.1		0.00	22	0	G			34185496	-1			no_errors	ENST00000311880	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.025	A
C19orf35	374872	genome.wustl.edu	37	19	2278932	2278932	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:2278932C>G	ENST00000342063.3	-	3	356	c.263G>C	c.(262-264)aGa>aCa	p.R88T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	88										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		CAGAAAGGGTCTCCGAGGCGG	0.657																																																	0													13.0	12.0	13.0					19																	2278932		2188	4284	6472	SO:0001583	missense	0			AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.263G>C	19.37:g.2278932C>G	ENSP00000345102:p.Arg88Thr			Missense_Mutation	SNP	NULL	p.R88T	ENST00000342063.3	37	c.263	CCDS12087.1	19	.	.	.	.	.	.	.	.	.	.	C	6.190	0.403163	0.11754	.	.	ENSG00000188305	ENST00000342063	T	0.16073	2.37	3.65	0.164	0.14990	.	.	.	.	.	T	0.18425	0.0442	L	0.53249	1.67	0.09310	N	1	P	0.36535	0.557	B	0.41174	0.349	T	0.18808	-1.0325	9	0.62326	D	0.03	.	6.4058	0.21664	0.0:0.48:0.0:0.52	.	88	Q6ZS72	CS035_HUMAN	T	88	ENSP00000345102:R88T	ENSP00000345102:R88T	R	-	2	0	C19orf35	2229932	0.428000	0.25522	0.007000	0.13788	0.036000	0.12997	0.484000	0.22308	-0.223000	0.09943	-0.390000	0.06520	AGA	C19orf35	-	NULL	ENSG00000188305		0.657	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf35	HGNC	protein_coding	OTTHUMT00000442080.1		0.00	54	0	C	NM_198532		2278932	-1			no_errors	ENST00000342063	ensembl	human	known	74_37	missense	35.59	76	42	SNP	0.022	G
C20orf194	25943	genome.wustl.edu	37	20	3240608	3240608	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr20:3240608G>A	ENST00000252032.9	-	32	3007	c.2940C>T	c.(2938-2940)ggC>ggT	p.G980G	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	980										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CCAAGGGACGGCCAAACCATA	0.433																																																	0													68.0	66.0	66.0					20																	3240608		1924	4126	6050	SO:0001819	synonymous_variant	0			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2940C>T	20.37:g.3240608G>A			Q66K86|Q6P2R9|Q9UFX9	Silent	SNP	NULL	p.G980	ENST00000252032.9	37	c.2940	CCDS42851.1	20																																																																																			C20orf194	-	NULL	ENSG00000088854		0.433	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1		0.00	41	0	G	NM_001009984		3240608	-1			no_errors	ENST00000252032	ensembl	human	known	74_37	silent	18.64	48	11	SNP	0.939	A
C4B	721	genome.wustl.edu	37	6	31996297	31996297	+	Missense_Mutation	SNP	G	G	A	rs2258218	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:31996297G>A	ENST00000435363.2	+	25	3302	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	C4B_ENST00000425700.2_Missense_Mutation_p.G1073D	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1073			G -> D (in allotype C4B2 and allotype C4B5-Rg1). {ECO:0000269|PubMed:6546707, ECO:0000269|Ref.3}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTGTCACGGGGCAGCAGCACC	0.617																																																	0													80.0	64.0	69.0					6																	31996297		2166	4204	6370	SO:0001583	missense	0			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3218G>A	6.37:g.31996297G>A	ENSP00000415941:p.Gly1073Asp		A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom	p.G1073D	ENST00000435363.2	37	c.3218	CCDS47405.1	6	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.023980	0.00414	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.12774	2.65;2.65	4.65	2.05	0.26809	.	.	.	.	.	T	0.00695	0.0023	N	0.00268	-1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45920	-0.9228	9	0.16896	T	0.51	.	3.9306	0.09283	0.6287:0.1801:0.1913:0.0	.	1073;1073	F5GXS0;Q6U2E9	.;.	D	1073	ENSP00000415941:G1073D;ENSP00000391933:G1073D	ENSP00000391933:G1073D	G	+	2	0	C4B	32104275	0.000000	0.05858	0.241000	0.24154	0.036000	0.12997	-0.332000	0.07904	0.169000	0.19679	-1.524000	0.00929	GGC	C4B	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000224389		0.617	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4B	HGNC	protein_coding	OTTHUMT00000076368.5		0.00	56	0	G	NM_001002029		31996297	+1			no_errors	ENST00000435363	ensembl	human	known	74_37	missense	42.86	4	3	SNP	0.060	A
ZBED8	63920	genome.wustl.edu	37	5	159821568	159821568	+	Silent	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:159821568T>C	ENST00000408953.3	-	2	1437	c.930A>G	c.(928-930)ctA>ctG	p.L310L	C5orf54_ENST00000523213.1_Silent_p.L310L	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aagcctgaaataggcgatgat	0.403																																																	0													80.0	81.0	80.0					5																	159821568		2203	4299	6502	SO:0001819	synonymous_variant	0																														ENST00000408953.3:c.930A>G	5.37:g.159821568T>C				Silent	SNP	superfamily_RNaseH-like_dom	p.L310	ENST00000408953.3	37	c.930	CCDS34283.1	5																																																																																			C5orf54	-	superfamily_RNaseH-like_dom	ENSG00000221886		0.403	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1		0.00	34	0	T			159821568	-1			no_errors	ENST00000408953	ensembl	human	known	74_37	silent	74.07	7	20	SNP	0.969	C
C5orf60	285679	genome.wustl.edu	37	5	179071847	179071847	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:179071847G>T	ENST00000448248.2	-	1	200	c.175C>A	c.(175-177)Ccc>Acc	p.P59T	C5orf60_ENST00000506142.1_Intron	NM_001142306.1	NP_001135778.1	A6NFR6	CE060_HUMAN	chromosome 5 open reading frame 60	59						integral component of membrane (GO:0016021)				NS(1)|breast(1)|kidney(5)	7						GGCTCCCTGGGAATGTAGAGG	0.542																																																	0													69.0	64.0	66.0					5																	179071847		692	1591	2283	SO:0001583	missense	0			BC043435	CCDS47353.1	5q35.3	2010-08-19			ENSG00000204661	ENSG00000204661			27753	protein-coding gene	gene with protein product						12477932	Standard	NM_001142306		Approved		uc003mki.3	A6NFR6	OTTHUMG00000163221	ENST00000448248.2:c.175C>A	5.37:g.179071847G>T	ENSP00000404583:p.Pro59Thr		A1L488|B7ZM52|B7ZM53	Missense_Mutation	SNP	NULL	p.P59T	ENST00000448248.2	37	c.175	CCDS47353.1	5	.	.	.	.	.	.	.	.	.	.	g	8.873	0.949704	0.18431	.	.	ENSG00000204661	ENST00000448248	T	0.21932	1.98	0.459	0.459	0.16678	.	.	.	.	.	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	D;D	0.55172	0.97;0.97	B;B	0.43680	0.427;0.427	T	0.19031	-1.0318	8	0.12430	T	0.62	.	.	.	.	.	59;59	A6NFR6-2;A6NFR6-4	.;.	T	59	ENSP00000404583:P59T	ENSP00000404583:P59T	P	-	1	0	C5orf60	179004453	0.011000	0.17503	0.014000	0.15608	0.108000	0.19459	0.495000	0.22483	0.493000	0.27837	0.205000	0.17691	CCC	C5orf60	-	NULL	ENSG00000204661		0.542	C5orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf60	HGNC	protein_coding	OTTHUMT00000372148.2		0.00	60	0	G	NM_001142306		179071847	-1			no_errors	ENST00000448248	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.013	T
CADM2	253559	genome.wustl.edu	37	3	86114860	86114860	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:86114860G>A	ENST00000407528.2	+	9	1231	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	CADM2_ENST00000383699.3_Missense_Mutation_p.R359Q|CADM2_ENST00000405615.2_Missense_Mutation_p.R392Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	390					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R392Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGCTTGGTCGATATCTGGCA	0.408																																																	1	Substitution - Missense(1)	large_intestine(1)											201.0	171.0	181.0					3																	86114860		2203	4300	6503	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1169G>A	3.37:g.86114860G>A	ENSP00000384575:p.Arg390Gln		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.R392Q	ENST00000407528.2	37	c.1175	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528575	0.85706	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.71698	-0.38;-0.59;-0.59	5.76	5.76	0.90799	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	D	0.84070	0.5391	M	0.77313	2.365	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.981;0.99;0.992	T	0.79495	-0.1780	10	0.19590	T	0.45	.	19.964	0.97260	0.0:0.0:1.0:0.0	.	392;359;390	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	Q	359;390;392	ENSP00000373200:R359Q;ENSP00000384575:R390Q;ENSP00000384193:R392Q	ENSP00000373200:R359Q	R	+	2	0	CADM2	86197550	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	8.062000	0.89475	2.721000	0.93114	0.650000	0.86243	CGA	CADM2	-	smart_Neurexin-like	ENSG00000175161		0.408	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1		0.00	67	0	G	NM_153184		86114860	+1			no_errors	ENST00000405615	ensembl	human	known	74_37	missense	86.36	6	38	SNP	1.000	A
CAND1	55832	genome.wustl.edu	37	12	67698914	67698914	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:67698914G>T	ENST00000545606.1	+	10	1903	c.1466G>T	c.(1465-1467)aGc>aTc	p.S489I		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	489					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GATAAATCAAGCTCATCGAAT	0.363																																																	0													120.0	110.0	113.0					12																	67698914		2203	4300	6503	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1466G>T	12.37:g.67698914G>T	ENSP00000442318:p.Ser489Ile		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.S489I	ENST00000545606.1	37	c.1466	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711454	0.68730	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.65916	-0.18	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	M	0.87547	2.89	0.80722	D	1	P	0.49358	0.923	P	0.48795	0.59	T	0.79485	-0.1784	9	.	.	.	-9.7144	19.5723	0.95425	0.0:0.0:1.0:0.0	.	489	Q86VP6	CAND1_HUMAN	I	489;489;331	ENSP00000442318:S489I	.	S	+	2	0	CAND1	65985181	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.737000	0.98831	2.695000	0.91970	0.557000	0.71058	AGC	CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.363	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1		0.00	53	0	G	NM_018448		67698914	+1			no_errors	ENST00000545606	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T
CARD11	84433	genome.wustl.edu	37	7	2962953	2962953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:2962953G>T	ENST00000396946.4	-	16	2358	c.1955C>A	c.(1954-1956)tCg>tAg	p.S652*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	652					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.S645L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGAGGTGACCGAAGGCCGGAA	0.652			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	1	Substitution - Missense(1)	lung(1)											31.0	36.0	34.0					7																	2962953		2190	4285	6475	SO:0001587	stop_gained	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1955C>A	7.37:g.2962953G>T	ENSP00000380150:p.Ser652*		A4D1Z7|Q2NKN7|Q548H3	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.S652*	ENST00000396946.4	37	c.1955	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	G	42	9.174968	0.99091	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5532	16.2253	0.82286	0.0:0.0:1.0:0.0	.	.	.	.	X	652;123	.	ENSP00000347695:S123X	S	-	2	0	CARD11	2929479	1.000000	0.71417	0.928000	0.36995	0.294000	0.27393	9.051000	0.93849	2.273000	0.75805	0.555000	0.69702	TCG	CARD11	-	superfamily_PDZ	ENSG00000198286		0.652	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4		0.00	45	0	G	NM_032415		2962953	-1			no_errors	ENST00000396946	ensembl	human	known	74_37	nonsense	6.12	46	3	SNP	0.997	T
CCDC174	51244	genome.wustl.edu	37	3	14693378	14693378	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:14693378C>A	ENST00000383794.3	+	1	108	c.35C>A	c.(34-36)gCc>gAc	p.A12D	CCDC174_ENST00000303688.7_Missense_Mutation_p.A12D|AC090952.5_ENST00000424242.1_RNA	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	12						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GACGTCACGGCCTCCTCGGTG	0.582																																																	0													61.0	66.0	64.0					3																	14693378		1951	4147	6098	SO:0001583	missense	0			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.35C>A	3.37:g.14693378C>A	ENSP00000373304:p.Ala12Asp		Q96CS5	Missense_Mutation	SNP	NULL	p.A12D	ENST00000383794.3	37	c.35	CCDS2620.2	3	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912194	0.52439	.	.	ENSG00000154781	ENST00000383794;ENST00000303688	T;T	0.52057	0.68;0.72	4.61	4.61	0.57282	.	0.063135	0.64402	D	0.000006	T	0.58061	0.2096	M	0.82823	2.61	0.51233	D	0.999912	D	0.54047	0.964	P	0.49752	0.621	T	0.64685	-0.6349	10	0.59425	D	0.04	-20.347	10.6227	0.45489	0.0:0.9072:0.0:0.0928	.	12	Q6PII3	CC019_HUMAN	D	12	ENSP00000373304:A12D;ENSP00000302344:A12D	ENSP00000302344:A12D	A	+	2	0	C3orf19	14668382	0.998000	0.40836	0.718000	0.30602	0.740000	0.42216	2.246000	0.43142	2.388000	0.81334	0.467000	0.42956	GCC	CCDC174	-	NULL	ENSG00000154781		0.582	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC174	HGNC	protein_coding	OTTHUMT00000252077.2		0.00	40	0	C	NM_016474		14693378	+1			no_errors	ENST00000383794	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.980	A
CASR	846	genome.wustl.edu	37	3	121980842	121980842	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:121980842C>A	ENST00000490131.1	+	4	1332	c.960C>A	c.(958-960)ttC>ttA	p.F320L	CASR_ENST00000296154.5_Missense_Mutation_p.F320L|CASR_ENST00000498619.1_Missense_Mutation_p.F320L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	320					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCATTGGATTCGCTCTGAAGG	0.577																																																	0													56.0	50.0	52.0					3																	121980842		2203	4300	6503	SO:0001583	missense	0			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.960C>A	3.37:g.121980842C>A	ENSP00000418685:p.Phe320Leu		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.F320L	ENST00000490131.1	37	c.960	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838618	0.71373	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.83914	-1.78;-1.78;-1.78	6.17	-6.77	0.01727	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.83083	0.5177	L	0.33137	0.985	0.58432	D	0.999992	D;D	0.89917	0.997;1.0	D;D	0.83275	0.993;0.996	D	0.83361	0.0002	10	0.56958	D	0.05	.	16.0532	0.80777	0.0:0.5573:0.0:0.4427	.	320;320	E7ENE0;P41180	.;CASR_HUMAN	L	320	ENSP00000418685:F320L;ENSP00000420194:F320L;ENSP00000296154:F320L	ENSP00000296154:F320L	F	+	3	2	CASR	123463532	0.984000	0.35163	0.241000	0.24154	0.974000	0.67602	0.154000	0.16343	-1.268000	0.02439	-0.937000	0.02696	TTC	CASR	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000036828		0.577	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1		0.00	28	0	C	NM_000388		121980842	+1			no_errors	ENST00000498619	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.980	A
CD207	50489	genome.wustl.edu	37	2	71062705	71062705	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:71062705G>T	ENST00000410009.3	-	2	152	c.107C>A	c.(106-108)cCg>cAg	p.P36Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	36					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGTTTTCCCCGGGACCAGAGA	0.557																																																	0													77.0	84.0	82.0					2																	71062705		2079	4221	6300	SO:0001583	missense	0			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.107C>A	2.37:g.71062705G>T	ENSP00000386378:p.Pro36Gln			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P36Q	ENST00000410009.3	37	c.107		2	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763808	0.49574	.	.	ENSG00000116031	ENST00000410009	T	0.04603	3.59	4.78	-5.82	0.02333	.	1.591340	0.03905	N	0.280992	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	1	B	0.25563	0.129	B	0.18263	0.021	T	0.42965	-0.9420	10	0.45353	T	0.12	.	3.6312	0.08133	0.2359:0.1454:0.4764:0.1424	.	36	Q9UJ71	CLC4K_HUMAN	Q	36	ENSP00000386378:P36Q	ENSP00000386378:P36Q	P	-	2	0	CD207	70916213	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.364000	0.02590	-0.797000	0.04450	-0.469000	0.05056	CCG	CD207	-	NULL	ENSG00000116031		0.557	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4		0.00	44	0	G	NM_015717		71062705	-1			no_errors	ENST00000410009	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	T
CERCAM	51148	genome.wustl.edu	37	9	131196803	131196803	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:131196803G>A	ENST00000372838.4	+	11	1844	c.1446G>A	c.(1444-1446)gcG>gcA	p.A482A	CERCAM_ENST00000372842.1_Silent_p.A404A|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	482					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TGCGTCTGGCGGGTGCCCGCA	0.672																																																	0													44.0	46.0	45.0					9																	131196803		2203	4299	6502	SO:0001819	synonymous_variant	0			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1446G>A	9.37:g.131196803G>A			A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	pfam_Glyco_trans_25	p.A482	ENST00000372838.4	37	c.1446	CCDS6901.2	9																																																																																			CERCAM	-	pfam_Glyco_trans_25	ENSG00000167123		0.672	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2		0.00	30	0	G	NM_016174		131196803	+1			no_errors	ENST00000372838	ensembl	human	known	74_37	silent	21.74	18	5	SNP	0.158	A
CHD3	1107	genome.wustl.edu	37	17	7803295	7803295	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:7803295C>T	ENST00000330494.7	+	16	2776	c.2626C>T	c.(2626-2628)Cgc>Tgc	p.R876C	CHD3_ENST00000380358.4_Missense_Mutation_p.R935C|CHD3_ENST00000358181.4_Missense_Mutation_p.R876C	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	876	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGGTTCCATCCGCTGGGCCTG	0.488																																																	0													147.0	122.0	130.0					17																	7803295		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2626C>T	17.37:g.7803295C>T	ENSP00000332628:p.Arg876Cys		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R876C	ENST00000330494.7	37	c.2626	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969096	0.34754	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93488	-3.23;-3.23;-3.23	5.4	4.39	0.52855	DEAD-like helicase (2);SNF2-related (1);	0.143887	0.32459	N	0.006065	D	0.89399	0.6704	L	0.42686	1.345	0.52501	D	0.999958	B;B;B	0.18863	0.013;0.017;0.031	B;B;B	0.10450	0.003;0.005;0.005	D	0.86481	0.1791	10	0.87932	D	0	-5.7439	10.1176	0.42601	0.0:0.7741:0.144:0.0819	.	876;876;935	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	C	935;876;876	ENSP00000369716:R935C;ENSP00000350907:R876C;ENSP00000332628:R876C	ENSP00000332628:R876C	R	+	1	0	CHD3	7744020	0.219000	0.23619	1.000000	0.80357	0.882000	0.50991	1.235000	0.32671	1.421000	0.47157	-0.367000	0.07326	CGC	CHD3	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000170004		0.488	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1		0.00	51	0	C	NM_001005273		7803295	+1			no_errors	ENST00000330494	ensembl	human	known	74_37	missense	33.96	35	18	SNP	1.000	T
CLEC4F	165530	genome.wustl.edu	37	2	71043299	71043299	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:71043299G>T	ENST00000272367.2	-	4	1290	c.1214C>A	c.(1213-1215)tCc>tAc	p.S405Y	CLEC4F_ENST00000426626.1_Missense_Mutation_p.S405Y	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	405					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTGGGTCTGGGAAGTTAAGGC	0.443																																					Colon(107;10 2157 6841 26035)												0													140.0	130.0	133.0					2																	71043299		2203	4300	6503	SO:0001583	missense	0			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1214C>A	2.37:g.71043299G>T	ENSP00000272367:p.Ser405Tyr		A4QPA5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.S405Y	ENST00000272367.2	37	c.1214	CCDS1910.1	2	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651380	0.47362	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.42513	0.97;0.97	3.99	3.99	0.46301	.	0.362699	0.20395	N	0.093161	T	0.61135	0.2323	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	T	0.52563	-0.8559	10	0.72032	D	0.01	.	11.8881	0.52615	0.0:0.0:1.0:0.0	.	405;405	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	Y	405	ENSP00000272367:S405Y;ENSP00000390581:S405Y	ENSP00000272367:S405Y	S	-	2	0	CLEC4F	70896807	0.031000	0.19500	0.009000	0.14445	0.100000	0.18952	2.687000	0.46976	2.517000	0.84864	0.467000	0.42956	TCC	CLEC4F	-	NULL	ENSG00000152672		0.443	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1		0.00	76	0	G	NM_173535		71043299	-1			no_errors	ENST00000272367	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.009	T
CHST10	9486	genome.wustl.edu	37	2	101014417	101014417	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:101014417G>T	ENST00000264249.3	-	5	765	c.380C>A	c.(379-381)cCc>cAc	p.P127H	CHST10_ENST00000542617.1_Missense_Mutation_p.P175H|CHST10_ENST00000409701.1_Missense_Mutation_p.P127H	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	127					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GCCCACTTTGGGAGTCTGGCA	0.498																																																	0													136.0	129.0	132.0					2																	101014417		2203	4300	6503	SO:0001583	missense	0			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.380C>A	2.37:g.101014417G>T	ENSP00000264249:p.Pro127His		Q53T18	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.P175H	ENST00000264249.3	37	c.524	CCDS2047.1	2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710055	0.89018	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858	T;T;T;T;T	0.77750	1.28;-1.12;1.28;-1.12;-0.59	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90473	0.7016	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91103	0.4916	10	0.59425	D	0.04	-28.2067	19.812	0.96551	0.0:0.0:1.0:0.0	.	127	O43529	CHSTA_HUMAN	H	127;175;127;127;127	ENSP00000264249:P127H;ENSP00000438869:P175H;ENSP00000387309:P127H;ENSP00000387121:P127H;ENSP00000405922:P127H	ENSP00000264249:P127H	P	-	2	0	CHST10	100380849	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.869000	0.99810	2.685000	0.91497	0.655000	0.94253	CCC	CHST10	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000115526		0.498	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1		0.00	26	0	G	NM_004854		101014417	-1			no_errors	ENST00000542617	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	T
CLTCL1	8218	genome.wustl.edu	37	22	19207487	19207487	+	Silent	SNP	G	G	A	rs199728866		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:19207487G>A	ENST00000263200.10	-	18	2898	c.2826C>T	c.(2824-2826)agC>agT	p.S942S	CLTCL1_ENST00000353891.5_Silent_p.S942S|CLTCL1_ENST00000427926.1_Silent_p.S942S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	942	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGCGGGCCTCGCTTTTGAACA	0.552			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													140.0	140.0	140.0					22																	19207487		1982	4151	6133	SO:0001819	synonymous_variant	0				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2826C>T	22.37:g.19207487G>A			B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.S942	ENST00000263200.10	37	c.2826	CCDS46662.1	22																																																																																			CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5		0.00	58	0	G	NM_007098		19207487	-1			no_errors	ENST00000263200	ensembl	human	known	74_37	silent	59.38	39	57	SNP	0.996	A
CLTCL1	8218	genome.wustl.edu	37	22	19209533	19209533	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:19209533C>G	ENST00000263200.10	-	16	2574	c.2502G>C	c.(2500-2502)atG>atC	p.M834I	CLTCL1_ENST00000353891.5_Missense_Mutation_p.M834I|CLTCL1_ENST00000427926.1_Missense_Mutation_p.M834I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	834	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCTCACTGCCATGATTAAGT	0.463			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													122.0	124.0	123.0					22																	19209533		1998	4168	6166	SO:0001583	missense	0				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2502G>C	22.37:g.19209533C>G	ENSP00000445677:p.Met834Ile		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.M834I	ENST00000263200.10	37	c.2502	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641992	0.29157	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20738	2.05;2.05;2.05	4.17	3.11	0.35812	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.160328	0.53938	D	0.000048	T	0.17619	0.0423	L	0.39467	1.215	0.48696	D	0.999691	B;B	0.02656	0.0;0.0	B;B	0.12837	0.001;0.008	T	0.04467	-1.0949	10	0.27082	T	0.32	-9.4438	13.0296	0.58835	0.1625:0.8374:0.0:0.0	.	834;834	P53675-2;P53675	.;CLH2_HUMAN	I	834	ENSP00000439662:M834I;ENSP00000445677:M834I;ENSP00000441158:M834I	ENSP00000445677:M834I	M	-	3	0	CLTCL1	17589533	1.000000	0.71417	0.895000	0.35142	0.981000	0.71138	3.333000	0.52090	0.919000	0.36945	0.563000	0.77884	ATG	CLTCL1	-	superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.463	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5		0.00	43	0	C	NM_007098		19209533	-1			no_errors	ENST00000263200	ensembl	human	known	74_37	missense	13.70	63	10	SNP	1.000	G
COL24A1	255631	genome.wustl.edu	37	1	86289379	86289379	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:86289379G>C	ENST00000370571.2	-	44	4090	c.3724C>G	c.(3724-3726)Caa>Gaa	p.Q1242E	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q1242E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1242	Collagen-like 13.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGGGGTCCTTGTTGTCCAGTG	0.338																																																	0													132.0	131.0	132.0					1																	86289379		1851	4092	5943	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3724C>G	1.37:g.86289379G>C	ENSP00000359603:p.Gln1242Glu		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.Q1242E	ENST00000370571.2	37	c.3724	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039753	0.55003	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93426	-2.55;-3.22	6.17	6.17	0.99709	.	0.000000	0.40144	N	0.001163	D	0.93874	0.8040	M	0.66939	2.045	0.51482	D	0.999925	D;D	0.60160	0.987;0.97	D;P	0.65140	0.932;0.774	D	0.90891	0.4761	10	0.07175	T	0.84	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	1242;1242	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	E	1242	ENSP00000359603:Q1242E;ENSP00000392531:Q1242E	ENSP00000359603:Q1242E	Q	-	1	0	COL24A1	86061967	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.175000	0.71949	2.941000	0.99782	0.655000	0.94253	CAA	COL24A1	-	pfam_Collagen	ENSG00000171502		0.338	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4		0.00	53	0	G	NM_152890		86289379	-1			no_errors	ENST00000370571	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	C
COL5A2	1290	genome.wustl.edu	37	2	189933524	189933524	+	Silent	SNP	A	A	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:189933524A>T	ENST00000374866.3	-	19	1519	c.1245T>A	c.(1243-1245)tcT>tcA	p.S415S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	415					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GAAGACCTGGAGAGCCAACTG	0.488																																																	0													32.0	39.0	37.0					2																	189933524		2203	4300	6503	SO:0001819	synonymous_variant	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1245T>A	2.37:g.189933524A>T			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.S415	ENST00000374866.3	37	c.1245	CCDS33350.1	2																																																																																			COL5A2	-	NULL	ENSG00000204262		0.488	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1		0.00	53	0	A	NM_000393		189933524	-1			no_errors	ENST00000374866	ensembl	human	known	74_37	silent	50.00	23	23	SNP	0.282	T
COL6A5	256076	genome.wustl.edu	37	3	130134526	130134526	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:130134526G>A	ENST00000432398.2	+	23	5293	c.4799G>A	c.(4798-4800)gGa>gAa	p.G1600E	COL6A5_ENST00000265379.6_Missense_Mutation_p.G1600E	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1600	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGAGAAAAAGGAAGCCAGGGG	0.413																																																	0													72.0	70.0	71.0					3																	130134526		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4799G>A	3.37:g.130134526G>A	ENSP00000390895:p.Gly1600Glu		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G1600E	ENST00000432398.2	37	c.4799		3	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386342	0.42308	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.99619	-5.77;-6.28	4.17	4.17	0.49024	.	.	.	.	.	D	0.99782	0.9909	H	0.98388	4.22	0.31491	N	0.665942	D	0.89917	1.0	D	0.97110	1.0	D	0.96541	0.9400	9	0.87932	D	0	.	12.1679	0.54141	0.0:0.0:1.0:0.0	.	1600	A8TX70-2	.	E	1600	ENSP00000390895:G1600E;ENSP00000265379:G1600E	ENSP00000265379:G1600E	G	+	2	0	COL6A5	131617216	0.999000	0.42202	0.943000	0.38184	0.787000	0.44495	4.450000	0.60041	2.327000	0.79052	0.555000	0.69702	GGA	COL6A5	-	pfam_Collagen	ENSG00000172752		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0.00	18	0	G	NM_153264		130134526	+1			no_errors	ENST00000265379	ensembl	human	known	74_37	missense	17.07	34	7	SNP	0.985	A
COL7A1	1294	genome.wustl.edu	37	3	48624968	48624968	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:48624968G>T	ENST00000328333.8	-	22	2984	c.2877C>A	c.(2875-2877)agC>agA	p.S959R	COL7A1_ENST00000454817.1_Missense_Mutation_p.S959R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	959	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTAGTTCAATGCTTGGAACAC	0.557																																																	0													67.0	66.0	66.0					3																	48624968		2203	4300	6503	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2877C>A	3.37:g.48624968G>T	ENSP00000332371:p.Ser959Arg		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.S959R	ENST00000328333.8	37	c.2877	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	8.439	0.850469	0.17034	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.85556	-2.0;-2.0	5.61	1.51	0.23008	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.124687	0.37437	N	0.002083	T	0.73845	0.3639	N	0.24115	0.695	0.09310	N	1	B	0.25272	0.122	B	0.33121	0.158	T	0.63721	-0.6573	10	0.49607	T	0.09	.	5.6132	0.17416	0.2244:0.2669:0.5086:0.0	.	959	Q02388	CO7A1_HUMAN	R	959	ENSP00000332371:S959R;ENSP00000412569:S959R	ENSP00000332371:S959R	S	-	3	2	COL7A1	48599972	0.001000	0.12720	0.981000	0.43875	0.798000	0.45092	0.043000	0.13971	0.397000	0.25310	0.655000	0.94253	AGC	COL7A1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000114270		0.557	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1		0.00	20	0	G	NM_000094		48624968	-1			no_errors	ENST00000328333	ensembl	human	known	74_37	missense	88.89	2	16	SNP	0.148	T
COL6A6	131873	genome.wustl.edu	37	3	130282064	130282064	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:130282064G>T	ENST00000358511.6	+	2	248	c.217G>T	c.(217-219)Gat>Tat	p.D73Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.D73Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	73	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGTACAGTGATAAACTTCA	0.498																																																	0													90.0	86.0	88.0					3																	130282064		1912	4117	6029	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.217G>T	3.37:g.130282064G>T	ENSP00000351310:p.Asp73Tyr		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D73Y	ENST00000358511.6	37	c.217	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575318	0.45902	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.80214	-1.35;-1.35	5.36	3.56	0.40772	von Willebrand factor, type A (3);	0.091610	0.47455	D	0.000235	D	0.87728	0.6250	M	0.76574	2.34	0.32079	N	0.593378	D	0.89917	1.0	D	0.72982	0.979	D	0.88870	0.3332	10	0.72032	D	0.01	.	11.373	0.49711	0.1484:0.0:0.8516:0.0	.	73	A6NMZ7	CO6A6_HUMAN	Y	73	ENSP00000351310:D73Y;ENSP00000399236:D73Y	ENSP00000351310:D73Y	D	+	1	0	COL6A6	131764754	0.347000	0.24853	0.105000	0.21289	0.580000	0.36256	1.201000	0.32259	0.744000	0.32741	0.561000	0.74099	GAT	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5		0.00	50	0	G	NM_001102608		130282064	+1			no_errors	ENST00000358511	ensembl	human	known	74_37	missense	31.51	50	23	SNP	0.908	T
CORO2A	7464	genome.wustl.edu	37	9	100895438	100895438	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:100895438C>T	ENST00000343933.5	-	5	787	c.530G>A	c.(529-531)aGc>aAc	p.S177N	CORO2A_ENST00000375077.4_Missense_Mutation_p.S177N	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	177					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TTGGTGACAGCTAATCGTACT	0.547																																																	0													289.0	215.0	240.0					9																	100895438		2203	4300	6503	SO:0001583	missense	0			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.530G>A	9.37:g.100895438C>T	ENSP00000343746:p.Ser177Asn		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S177N	ENST00000343933.5	37	c.530	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	C	4.448	0.082877	0.08533	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.06608	3.28;3.28	5.01	-3.56	0.04626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.765466	0.13339	N	0.395302	T	0.04003	0.0112	N	0.21583	0.68	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.36040	-0.9764	10	0.37606	T	0.19	-0.0035	8.6624	0.34101	0.0:0.2454:0.1303:0.6243	.	177	Q92828	COR2A_HUMAN	N	177	ENSP00000343746:S177N;ENSP00000364218:S177N	ENSP00000343746:S177N	S	-	2	0	CORO2A	99935259	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.416000	0.02467	-0.794000	0.04468	-1.067000	0.02272	AGC	CORO2A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106789		0.547	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1		0.00	66	0	C	NM_003389		100895438	-1			no_errors	ENST00000343933	ensembl	human	known	74_37	missense	31.03	60	27	SNP	0.014	T
CSF2RA	1438	genome.wustl.edu	37	X	1419478	1419478	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:1419478G>A	ENST00000381524.3	+	10	1091	c.905G>A	c.(904-906)cGc>cAc	p.R302H	CSF2RA_ENST00000432318.2_Missense_Mutation_p.R302H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R302H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R302H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|RNA5SP498_ENST00000411342.1_RNA|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R302H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R302H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R169H|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R302H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R302H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	302	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCAGACGTCCGCATCTTGAAT	0.498																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0													133.0	123.0	126.0					X																	1419478		2203	4296	6499	SO:0001583	missense	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.905G>A	X.37:g.1419478G>A	ENSP00000370935:p.Arg302His		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.R302H	ENST00000381524.3	37	c.905	CCDS35191.1	X	.	.	.	.	.	.	.	.	.	.	.	8.577	0.881492	0.17467	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.96011	-3.88;-3.88;-2.03;-2.03;-3.88;-3.88;-2.03;-3.88;-2.03	0.798	0.798	0.18660	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.753584	0.10833	U	0.629141	D	0.88847	0.6548	.	.	.	0.09310	N	1	D;P;P;P;P	0.54207	0.965;0.812;0.923;0.904;0.812	B;B;B;B;B	0.42798	0.282;0.158;0.263;0.398;0.158	T	0.81616	-0.0852	9	0.15499	T	0.54	.	4.9167	0.13849	0.0:0.0:1.0:0.0	.	302;302;302;302;302	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	H	302;302;302;169;302;302;302;302;302	ENSP00000370940:R302H;ENSP00000416437:R302H;ENSP00000354836:R302H;ENSP00000440491:R169H;ENSP00000370935:R302H;ENSP00000370920:R302H;ENSP00000347606:R302H;ENSP00000394227:R302H;ENSP00000370911:R302H	ENSP00000347606:R302H	R	+	2	0	CSF2RA	1379478	0.001000	0.12720	0.003000	0.11579	0.077000	0.17291	1.222000	0.32515	0.745000	0.32763	0.100000	0.15512	CGC	CSF2RA	-	superfamily_Fibronectin_type3	ENSG00000198223		0.498	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2		0.00	143	0	G			1419478	+1			no_errors	ENST00000417535	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.003	A
CTNNA2	1496	genome.wustl.edu	37	2	80816472	80816472	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:80816472C>A	ENST00000402739.4	+	14	2056	c.2051C>A	c.(2050-2052)gCt>gAt	p.A684D	AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A718D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A684D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A684D|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A363D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A684D|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A684D	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	684					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAAAAATAGCTGAGCAGGTG	0.502																																																	0													90.0	97.0	95.0					2																	80816472		2195	4299	6494	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2051C>A	2.37:g.80816472C>A	ENSP00000384638:p.Ala684Asp		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.A718D	ENST00000402739.4	37	c.2153		2	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661504	0.67700	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	M	0.70903	2.155	0.80722	D	1	B;B;B;B	0.24043	0.001;0.025;0.045;0.096	B;B;B;B	0.28011	0.005;0.085;0.049;0.049	T	0.25082	-1.0142	9	.	.	.	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	316;684;684;684	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	D	684;684;718;684;684;684;363	ENSP00000418191:A684D;ENSP00000419295:A684D;ENSP00000355398:A718D;ENSP00000384638:A684D;ENSP00000444675:A684D;ENSP00000441705:A684D;ENSP00000341500:A363D	.	A	+	2	0	CTNNA2	80669983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.836000	0.97738	0.655000	0.94253	GCT	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.502	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4		0.00	71	0	C	NM_004389		80816472	+1			no_errors	ENST00000361291	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A
DNAH11	8701	genome.wustl.edu	37	7	21628842	21628842	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:21628842G>A	ENST00000409508.3	+	12	2021	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D664N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	664	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGCAATCCTGATCACGCTTT	0.289									Kartagener syndrome																																								0													83.0	79.0	80.0					7																	21628842		1811	4074	5885	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1990G>A	7.37:g.21628842G>A	ENSP00000475939:p.Asp664Asn		Q9UJ82	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.D664N	ENST00000409508.3	37	c.1990		7	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202765	0.58234	.	.	ENSG00000105877	ENST00000328843	T	0.57107	0.42	5.58	5.58	0.84498	Dynein heavy chain, domain-1 (1);	0.531853	0.19644	N	0.109378	T	0.64170	0.2574	.	.	.	0.39918	D	0.974114	P	0.47484	0.896	P	0.51550	0.673	T	0.66300	-0.5958	9	0.52906	T	0.07	.	18.3512	0.90339	0.0:0.0:1.0:0.0	.	664	Q96DT5	DYH11_HUMAN	N	664	ENSP00000330671:D664N	ENSP00000330671:D664N	D	+	1	0	DNAH11	21595367	1.000000	0.71417	0.993000	0.49108	0.061000	0.15899	6.657000	0.74402	2.623000	0.88846	0.650000	0.86243	GAT	DNAH11	-	pfam_Dynein_heavy_dom-1	ENSG00000105877		0.289	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6		0.00	90	0	G	NM_003777		21628842	+1			no_errors	ENST00000328843	ensembl	human	known	74_37	missense	7.26	115	9	SNP	1.000	A
DNAJB1	3337	genome.wustl.edu	37	19	14628955	14628955	+	Silent	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:14628955C>T	ENST00000254322.2	-	1	277	c.207G>A	c.(205-207)gaG>gaA	p.E69E	DNAJB1_ENST00000396969.4_Intron	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	69	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		ACACACCTTCCTCCCCGTAGC	0.692																																																	0													28.0	21.0	23.0					19																	14628955		2200	4296	6496	SO:0001819	synonymous_variant	0			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.207G>A	19.37:g.14628955C>T			B4DX52	Silent	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.E69	ENST00000254322.2	37	c.207	CCDS12312.1	19																																																																																			DNAJB1	-	superfamily_DnaJ_domain,prints_DnaJ_domain	ENSG00000132002		0.692	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB1	HGNC	protein_coding	OTTHUMT00000465987.1		0.00	54	0	C	NM_006145		14628955	-1			no_errors	ENST00000254322	ensembl	human	known	74_37	silent	51.06	23	24	SNP	1.000	T
DNER	92737	genome.wustl.edu	37	2	230312083	230312083	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:230312083G>A	ENST00000341772.4	-	8	1569	c.1435C>T	c.(1435-1437)Cat>Tat	p.H479Y		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	479	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.H479Y(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CACGTGCCATGAGCACAGGGG	0.577																																																	1	Substitution - Missense(1)	skin(1)											47.0	42.0	43.0					2																	230312083		2203	4300	6503	SO:0001583	missense	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1435C>T	2.37:g.230312083G>A	ENSP00000345229:p.His479Tyr		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.H479Y	ENST00000341772.4	37	c.1435	CCDS33390.1	2	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763120	0.69763	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.87729	-2.29	4.94	4.94	0.65067	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	L	0.43757	1.38	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91001	0.4842	10	0.46703	T	0.11	.	18.5296	0.90986	0.0:0.0:1.0:0.0	.	479	Q8NFT8	DNER_HUMAN	Y	479;197	ENSP00000345229:H479Y	ENSP00000345229:H479Y	H	-	1	0	DNER	230020327	1.000000	0.71417	0.444000	0.26895	0.515000	0.34225	9.278000	0.95766	2.442000	0.82660	0.655000	0.94253	CAT	DNER	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000187957		0.577	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1		0.00	31	0	G	NM_139072		230312083	-1			no_errors	ENST00000341772	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.998	A
DRD5	1816	genome.wustl.edu	37	4	9784785	9784785	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:9784785T>G	ENST00000304374.2	+	1	1528	c.1132T>G	c.(1132-1134)Ttc>Gtc	p.F378V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	378					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.F378V(4)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTGCAGCCACTTCTGCTCCCG	0.562																																																	4	Substitution - Missense(4)	skin(2)|NS(1)|endometrium(1)											63.0	55.0	57.0					4																	9784785		2203	4300	6503	SO:0001583	missense	0			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1132T>G	4.37:g.9784785T>G	ENSP00000306129:p.Phe378Val		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt	p.F378V	ENST00000304374.2	37	c.1132	CCDS3405.1	4	.	.	.	.	.	.	.	.	.	.	t	1.422	-0.572511	0.03882	.	.	ENSG00000169676	ENST00000304374	T	0.36878	1.23	4.73	-0.492	0.12041	.	1.972870	0.02341	N	0.074845	T	0.21103	0.0508	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10109	-1.0644	10	0.16420	T	0.52	.	4.5978	0.12338	0.0:0.3044:0.1738:0.5218	.	378	P21918	DRD5_HUMAN	V	378	ENSP00000306129:F378V	ENSP00000306129:F378V	F	+	1	0	DRD5	9393883	0.067000	0.21026	0.022000	0.16811	0.197000	0.23852	0.558000	0.23469	-0.022000	0.13986	-2.216000	0.00297	TTC	DRD5	-	NULL	ENSG00000169676		0.562	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1		0.00	40	0	T			9784785	+1			no_errors	ENST00000304374	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.043	G
DSCAM	1826	genome.wustl.edu	37	21	41496159	41496159	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr21:41496159C>T	ENST00000400454.1	-	20	4136	c.3659G>A	c.(3658-3660)cGa>cAa	p.R1220Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1220	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTGTACTTTCGGATGATGCC	0.582																																					Melanoma(134;970 1778 1785 21664 32388)												0													174.0	181.0	179.0					21																	41496159		2029	4180	6209	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3659G>A	21.37:g.41496159C>T	ENSP00000383303:p.Arg1220Gln		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1220Q	ENST00000400454.1	37	c.3659	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149122	0.78001	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56611	0.45;0.45	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.33189	0.99	0.46725	D	0.999176	D	0.76494	0.999	D	0.68192	0.956	T	0.58967	-0.7542	10	0.30854	T	0.27	.	18.7183	0.91684	0.0:1.0:0.0:0.0	.	1220	O60469	DSCAM_HUMAN	Q	1220;972	ENSP00000383303:R1220Q;ENSP00000385342:R972Q	ENSP00000383303:R1220Q	R	-	2	0	DSCAM	40418029	1.000000	0.71417	0.996000	0.52242	0.377000	0.30045	7.631000	0.83237	2.392000	0.81423	0.563000	0.77884	CGA	DSCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000171587		0.582	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1		0.00	48	0	C	NM_001389		41496159	-1			no_errors	ENST00000400454	ensembl	human	known	74_37	missense	55.56	20	25	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56394339	56394339	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:56394339C>A	ENST00000244364.6	-	47	9840	c.9633G>T	c.(9631-9633)atG>atT	p.M3211I	DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.M5625I|DST_ENST00000421834.2_Missense_Mutation_p.M3537I|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Missense_Mutation_p.M5299I|DST_ENST00000370754.5_Missense_Mutation_p.M5803I|DST_ENST00000312431.6_3'UTR	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5623					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAGCCAGTTCATCAGTTCAA	0.458																																																	0													137.0	129.0	132.0					6																	56394339		1955	4166	6121	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9633G>T	6.37:g.56394339C>A	ENSP00000244364:p.Met3211Ile		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.M5803I	ENST00000244364.6	37	c.17409	CCDS47443.1	6	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988678	0.35131	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842	T;T;T;T;T	0.61627	1.4;0.11;0.09;1.4;1.4	5.9	4.92	0.64577	.	0.102432	0.42548	D	0.000695	T	0.37705	0.1013	N	0.17474	0.49	0.25454	N	0.987974	P;B;B;B;B	0.41159	0.74;0.009;0.007;0.002;0.01	P;B;B;B;B	0.48425	0.577;0.015;0.01;0.002;0.021	T	0.28870	-1.0030	9	0.32370	T	0.25	.	13.5289	0.61611	0.0:0.8985:0.0:0.1015	.	3537;5625;5803;5623;3211	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	I	3211;5803;5625;3537;5299	ENSP00000244364:M3211I;ENSP00000359790:M5803I;ENSP00000359805:M5625I;ENSP00000400883:M3537I;ENSP00000393645:M5299I	ENSP00000244364:M3211I	M	-	3	0	DST	56502298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.969000	0.49232	2.802000	0.96397	0.650000	0.86243	ATG	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.458	DST-005	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041022.4		0.00	22	0	C	NM_001723		56394339	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56420474	56420474	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:56420474C>A	ENST00000361203.3	-	56	14179	c.14172G>T	c.(14170-14172)ttG>ttT	p.L4724F	DST_ENST00000370769.4_Missense_Mutation_p.L4726F|DST_ENST00000421834.2_Missense_Mutation_p.L2638F|DST_ENST00000370788.2_Missense_Mutation_p.L2638F|DST_ENST00000244364.6_Missense_Mutation_p.L2312F|DST_ENST00000446842.2_Missense_Mutation_p.L4400F|DST_ENST00000370754.5_Missense_Mutation_p.L4904F|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	4724					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCTGTCACTCAATTGCCCTG	0.458																																																	0													69.0	68.0	68.0					6																	56420474		1950	4162	6112	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14172G>T	6.37:g.56420474C>A	ENSP00000354508:p.Leu4724Phe		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L4904F	ENST00000361203.3	37	c.14712		6	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262474	0.59431	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.67	4.78	0.61160	.	0.000000	0.43260	D	0.000591	T	0.64427	0.2597	M	0.82323	2.585	0.27378	N	0.9554860000000001	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0	T	0.69483	-0.5133	9	0.44086	T	0.13	.	16.7799	0.85560	0.0:0.8708:0.1292:0.0	.	2638;4726;4904;4724;2312	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	2312;4904;4726;2638;4400;2638;4724	ENSP00000244364:L2312F;ENSP00000359790:L4904F;ENSP00000359805:L4726F;ENSP00000400883:L2638F;ENSP00000393645:L4400F;ENSP00000359824:L2638F;ENSP00000354508:L4724F	ENSP00000244364:L2312F	L	-	3	2	DST	56528433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.855000	0.55957	1.489000	0.48450	0.655000	0.94253	TTG	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0.00	53	0	C	NM_001723		56420474	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A
EFCAB6	64800	genome.wustl.edu	37	22	44107417	44107417	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:44107417C>A	ENST00000262726.7	-	10	1222	c.969G>T	c.(967-969)aaG>aaT	p.K323N	EFCAB6_ENST00000358439.4_Missense_Mutation_p.K217N|EFCAB6_ENST00000396231.2_Missense_Mutation_p.K171N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	323	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CGAGGACAATCTTTAGATAAT	0.373																																																	0													68.0	71.0	70.0					22																	44107417		2203	4300	6503	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.969G>T	22.37:g.44107417C>A	ENSP00000262726:p.Lys323Asn		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.K323N	ENST00000262726.7	37	c.969	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624112	0.66901	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439	T;T;T	0.40756	2.97;2.97;1.02	5.29	5.29	0.74685	.	0.144073	0.45126	D	0.000388	T	0.57140	0.2033	L	0.59436	1.845	0.38843	D	0.956114	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.996;0.978	T	0.53521	-0.8427	10	0.28530	T	0.3	-43.5993	11.6765	0.51432	0.0:0.9192:0.0:0.0808	.	217;323;323	B4DKR4;Q5THR3-6;Q5THR3	.;.;EFCB6_HUMAN	N	171;323;217	ENSP00000379533:K171N;ENSP00000262726:K323N;ENSP00000351219:K217N	ENSP00000262726:K323N	K	-	3	2	EFCAB6	42438750	0.964000	0.33143	0.731000	0.30826	0.911000	0.54048	2.103000	0.41806	2.743000	0.94032	0.563000	0.77884	AAG	EFCAB6	-	smart_EF_hand_dom	ENSG00000186976		0.373	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1		0.00	41	0	C	NM_022785		44107417	-1			no_errors	ENST00000262726	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.964	A
CBFA2T3	863	genome.wustl.edu	37	16	89017435	89017435	+	Intron	SNP	G	G	C	rs112625210	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:89017435G>C	ENST00000268679.4	-	1	548				CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Intron|CBFA2T3_ENST00000360302.2_Intron|RP11-830F9.6_ENST00000378347.2_Silent_p.R303R	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3						cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ACCGGCACCGGCACAGAGGGT	0.642			T	RUNX1	AML								-|||	204	0.0407348	0.1392	0.0144	5008	,	,		18771	0.006		0.004	False		,,,				2504	0.0							Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0																																										SO:0001627	intron_variant	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.151+25629C>G	16.37:g.89017435G>C			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	NULL	p.R303	ENST00000268679.4	37	c.909	CCDS10972.1	16																																																																																			RP11-830F9.6	-	NULL	ENSG00000205018		0.642	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000205018	Clone_based_vega_gene	protein_coding	OTTHUMT00000269545.2		0.00	179	0	G	NM_005187		89017435	+1			no_errors	ENST00000378347	ensembl	human	putative	74_37	silent	34.00	99	51	SNP	0.977	C
FLJ14816	0	genome.wustl.edu	37	2	121223556	121223556	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:121223556G>T	ENST00000593290.1	-	1	141	c.131C>A	c.(130-132)tCt>tAt	p.S44Y																								CTCATCAAGAGACCCATGGGG	0.592																																																	0																																										SO:0001583	missense	0																														ENST00000593290.1:c.131C>A	2.37:g.121223556G>T	ENSP00000469038:p.Ser44Tyr			Missense_Mutation	SNP	NULL	p.S44Y	ENST00000593290.1	37	c.131		2																																																																																			FLJ14816	-	NULL	ENSG00000268194		0.592	FLJ14816-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000268194	Uniprot_gn	protein_coding			0.00	30	0	G			121223556	-1			no_errors	ENST00000593290	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.010	T
ERAP1	51752	genome.wustl.edu	37	5	96139172	96139172	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:96139172C>G	ENST00000443439.2	-	2	524	c.458G>C	c.(457-459)gGc>gCc	p.G153A	ERAP1_ENST00000296754.3_Missense_Mutation_p.G153A|CTD-2260A17.3_ENST00000606346.1_RNA|CTD-2260A17.3_ENST00000606656.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	153					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CGAAAGATTGCCAGCATAGTG	0.488																																																	0													76.0	81.0	79.0					5																	96139172		2203	4300	6503	SO:0001583	missense	0			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.458G>C	5.37:g.96139172C>G	ENSP00000406304:p.Gly153Ala		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G153A	ENST00000443439.2	37	c.458	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	C	3.629	-0.075940	0.07184	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.03242	4.0;4.0	5.51	3.57	0.40892	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.213428	0.47455	N	0.000227	T	0.02494	0.0076	N	0.13003	0.285	0.27777	N	0.943295	B;B	0.09022	0.002;0.001	B;B	0.17722	0.019;0.002	T	0.40813	-0.9543	10	0.02654	T	1	.	15.2495	0.73532	0.0:0.5482:0.4518:0.0	.	153;153	Q9NZ08;Q9NZ08-2	ERAP1_HUMAN;.	A	153	ENSP00000296754:G153A;ENSP00000406304:G153A	ENSP00000296754:G153A	G	-	2	0	ERAP1	96164928	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.764000	0.47613	1.282000	0.44496	0.561000	0.74099	GGC	ERAP1	-	pfam_Peptidase_M1_N	ENSG00000164307		0.488	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1		0.00	29	0	C	NM_016442		96139172	-1			no_errors	ENST00000296754	ensembl	human	known	74_37	missense	45.45	30	25	SNP	1.000	G
EVC	2121	genome.wustl.edu	37	4	5743442	5743442	+	Splice_Site	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:5743442G>A	ENST00000264956.6	+	6	886		c.e6-1		EVC_ENST00000509451.1_Splice_Site|EVC_ENST00000382674.2_Splice_Site	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome						cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTTGGCAATAGATGTTTATTC	0.353																																																	0			GRCh37	CS070372	EVC	S							52.0	54.0	53.0					4																	5743442		2203	4297	6500	SO:0001630	splice_region_variant	0			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.703-1G>A	4.37:g.5743442G>A				Splice_Site	SNP	-	e6-1	ENST00000264956.6	37	c.703-1	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459411	0.63401	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9911	0.86354	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EVC	5794343	1.000000	0.71417	0.988000	0.46212	0.861000	0.49209	5.192000	0.65115	2.340000	0.79590	0.609000	0.83330	.	EVC	-	-	ENSG00000072840		0.353	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1		0.00	32	0	G		Intron	5743442	+1			no_errors	ENST00000264956	ensembl	human	known	74_37	splice_site	44.00	14	11	SNP	1.000	A
FAM65B	9750	genome.wustl.edu	37	6	24865603	24865603	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:24865603C>T	ENST00000259698.4	-	7	665	c.490G>A	c.(490-492)Gca>Aca	p.A164T	FAM65B_ENST00000540914.1_Missense_Mutation_p.A164T|FAM65B_ENST00000510784.2_Missense_Mutation_p.A198T|FAM65B_ENST00000538035.1_Missense_Mutation_p.A193T|FAM65B_ENST00000378023.4_Missense_Mutation_p.A164T	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	164					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.A164T(2)|p.A164P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GGGGATGTTGCGAAGGCTTGC	0.493																																																	4	Substitution - Missense(4)	lung(2)|endometrium(2)											82.0	79.0	80.0					6																	24865603		1924	4134	6058	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.490G>A	6.37:g.24865603C>T	ENSP00000259698:p.Ala164Thr		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A164T	ENST00000259698.4	37	c.490	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281144	0.40394	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42	5.72	4.86	0.63082	.	0.098854	0.64402	D	0.000001	T	0.00637	0.0021	N	0.04636	-0.2	0.44908	D	0.997928	B;D;B;P	0.54601	0.276;0.967;0.103;0.942	B;P;B;P	0.46629	0.061;0.462;0.034;0.522	T	0.59359	-0.7469	10	0.06494	T	0.89	-13.41	14.9184	0.70815	0.0:0.9314:0.0:0.0686	.	198;193;164;164	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	T	164;193;164;164;198	ENSP00000259698:A164T;ENSP00000441138:A193T;ENSP00000367262:A164T;ENSP00000438425:A164T;ENSP00000441305:A198T	ENSP00000259698:A164T	A	-	1	0	FAM65B	24973582	0.988000	0.35896	0.258000	0.24420	0.325000	0.28411	2.268000	0.43338	1.413000	0.46997	0.655000	0.94253	GCA	FAM65B	-	NULL	ENSG00000111913		0.493	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2		0.00	44	0	C			24865603	-1			no_errors	ENST00000259698	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.993	T
FBXO18	84893	genome.wustl.edu	37	10	5955768	5955768	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:5955768A>G	ENST00000362091.4	+	7	1385	c.1270A>G	c.(1270-1272)Aca>Gca	p.T424A	FBXO18_ENST00000379999.5_Missense_Mutation_p.T475A|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	424					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CACTCAGGCCACAAAAGTTAA	0.413																																																	0													163.0	142.0	149.0					10																	5955768		2203	4300	6503	SO:0001583	missense	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1270A>G	10.37:g.5955768A>G	ENSP00000355415:p.Thr424Ala		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom	p.T475A	ENST00000362091.4	37	c.1423	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	A	4.273	0.049790	0.08243	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.63	1.93	0.25924	.	1.042240	0.07434	N	0.896205	T	0.18964	0.0455	N	0.14661	0.345	0.20926	N	0.999823	B;B;B	0.11235	0.004;0.003;0.003	B;B;B	0.08055	0.003;0.001;0.001	T	0.30822	-0.9965	9	0.11182	T	0.66	-9.8933	5.5017	0.16833	0.6562:0.0:0.0747:0.2692	.	475;424;350	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	A	424;161;475;161	.	ENSP00000355415:T424A	T	+	1	0	FBXO18	5995774	0.027000	0.19231	0.836000	0.33094	0.665000	0.39181	0.569000	0.23638	0.366000	0.24427	0.402000	0.26972	ACA	FBXO18	-	NULL	ENSG00000134452		0.413	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1		0.00	105	0	A	NM_032807		5955768	+1			no_errors	ENST00000379999	ensembl	human	known	74_37	missense	41.67	35	25	SNP	0.036	G
FLG	2312	genome.wustl.edu	37	1	152284593	152284593	+	Silent	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:152284593A>G	ENST00000368799.1	-	3	2804	c.2769T>C	c.(2767-2769)tcT>tcC	p.S923S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	923	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGAGTGTCTAGAGATGTCGG	0.552									Ichthyosis																																								0													345.0	331.0	336.0					1																	152284593		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2769T>C	1.37:g.152284593A>G			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S923	ENST00000368799.1	37	c.2769	CCDS30860.1	1																																																																																			FLG	-	pfam_Filaggrin	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1		0.00	187	0	A	NM_002016		152284593	-1			no_errors	ENST00000368799	ensembl	human	known	74_37	silent	25.70	157	55	SNP	0.000	G
FSIP2	401024	genome.wustl.edu	37	2	186669759	186669759	+	Silent	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:186669759T>C	ENST00000424728.1	+	17	15726	c.15726T>C	c.(15724-15726)ggT>ggC	p.G5242G	FSIP2_ENST00000343098.5_Silent_p.G5331G			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5242										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTTTACATGGTGAAGAATCAT	0.338																																																	0																																										SO:0001819	synonymous_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.15726T>C	2.37:g.186669759T>C			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.G5331	ENST00000424728.1	37	c.15993		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.338	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3		0.00	51	0	T	NM_173651		186669759	+1			no_errors	ENST00000343098	ensembl	human	known	74_37	silent	50.00	26	26	SNP	0.882	C
FTSJ2	29960	genome.wustl.edu	37	7	2279081	2279081	+	Silent	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:2279081C>T	ENST00000242257.8	-	2	298	c.270G>A	c.(268-270)gcG>gcA	p.A90A	NUDT1_ENST00000397046.1_5'Flank|NUDT1_ENST00000397048.1_5'Flank|FTSJ2_ENST00000440306.2_Silent_p.A90A|NUDT1_ENST00000356714.1_5'Flank|FTSJ2_ENST00000407040.1_5'Flank|NUDT1_ENST00000397049.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)											endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCTTCTGCACCGCCACCTGAC	0.647																																																	0													26.0	26.0	26.0					7																	2279081		2202	4300	6502	SO:0001819	synonymous_variant	0			AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"""rRNA (uridine-2'-O-)-methyltransferase"", ""MRM2 RNA methyltransferase homolog (S. cerevisiae)"""	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.270G>A	7.37:g.2279081C>T				Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	p.A90	ENST00000242257.8	37	c.270	CCDS5328.1	7																																																																																			FTSJ2	-	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	ENSG00000122687		0.647	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ2	HGNC	protein_coding	OTTHUMT00000060187.1		0.00	20	0	C	NM_013393		2279081	-1			no_errors	ENST00000242257	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.535	T
GAREML	150946	genome.wustl.edu	37	2	26407104	26407104	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:26407104G>A	ENST00000401533.2	+	4	517	c.387G>A	c.(385-387)gtG>gtA	p.V129V	GAREML_ENST00000407684.1_Silent_p.V52V	NM_001168241.1	NP_001161713.1	Q75VX8	GAREL_HUMAN	GRB2 associated, regulator of MAPK1-like	129	CABIT.					extracellular vesicular exosome (GO:0070062)											ATCCCCAGGTGGTGTCGGGCG	0.622																																																	0													26.0	25.0	25.0					2																	26407104		692	1591	2283	SO:0001819	synonymous_variant	0			AK090454, AB015349, AB124552	CCDS54336.1, CCDS54337.1	2p23.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000157833	ENSG00000157833			27172	protein-coding gene	gene with protein product			"""family with sequence similarity 59, member B"""	FAM59B			Standard	NM_001168241		Approved	KIAA2038, FLJ00375	uc002rgw.2	Q75VX8	OTTHUMG00000151935	ENST00000401533.2:c.387G>A	2.37:g.26407104G>A			B5MC97|B7WNK9|Q8NF27|Q9UIK8	Silent	SNP	superfamily_SAM/pointed	p.V129	ENST00000401533.2	37	c.387	CCDS54336.1	2																																																																																			GAREML	-	NULL	ENSG00000157833		0.622	GAREML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAREML	HGNC	protein_coding	OTTHUMT00000324498.2		0.00	52	0	G	NM_001168241		26407104	+1			no_errors	ENST00000401533	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	A
GART	2618	genome.wustl.edu	37	21	34901225	34901225	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr21:34901225G>C	ENST00000381831.3	-	8	1005	c.742C>G	c.(742-744)Cta>Gta	p.L248V	GART_ENST00000381839.3_Missense_Mutation_p.L248V|GART_ENST00000381815.4_Missense_Mutation_p.L248V|GART_ENST00000497313.1_5'Flank|GART_ENST00000361093.5_Missense_Mutation_p.L248V	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	248	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTAATTTTTAGTAATAGATCA	0.403																																																	0													92.0	88.0	89.0					21																	34901225		2203	4300	6503	SO:0001583	missense	0			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.742C>G	21.37:g.34901225G>C	ENSP00000371253:p.Leu248Val		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.L248V	ENST00000381831.3	37	c.742	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	G	9.450	1.090450	0.20471	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.41	3.3	0.37823	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.196102	0.44097	N	0.000491	T	0.21674	0.0522	L	0.39245	1.2	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06991	-1.0796	10	0.42905	T	0.14	-5.0795	5.823	0.18538	0.1681:0.1996:0.6323:0.0	.	248	P22102	PUR2_HUMAN	V	248	ENSP00000371236:L248V;ENSP00000371253:L248V;ENSP00000371261:L248V;ENSP00000354388:L248V	ENSP00000354388:L248V	L	-	1	2	GART	33823095	0.729000	0.28090	0.967000	0.41034	0.460000	0.32559	0.670000	0.25157	1.249000	0.43950	0.650000	0.86243	CTA	GART	-	pfam_PRibGlycinamid_synth_ATP-grasp,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth	ENSG00000159131		0.403	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3		0.00	62	0	G	NM_000819		34901225	-1			no_errors	ENST00000381815	ensembl	human	known	74_37	missense	47.17	28	25	SNP	0.996	C
GBP1P1	400759	genome.wustl.edu	37	1	89890100	89890100	+	RNA	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:89890100A>G	ENST00000513638.1	+	0	841					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		AGAGAACATGAAGCCCAGGGG	0.453																																																	0																																												0					1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89890100A>G				RNA	SNP	-	NULL	ENST00000513638.1	37	NULL		1																																																																																			GBP1P1	-	-	ENSG00000225492		0.453	GBP1P1-002	KNOWN	basic	processed_transcript	GBP1P1	HGNC	pseudogene	OTTHUMT00000360073.1		0.00	38	0	A	NR_003133		89890100	+1			no_errors	ENST00000513638	ensembl	human	known	74_37	rna	34.38	21	11	SNP	0.000	G
GHR	2690	genome.wustl.edu	37	5	42719319	42719319	+	Silent	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:42719319A>G	ENST00000230882.4	+	10	1900	c.1710A>G	c.(1708-1710)gaA>gaG	p.E570E	GHR_ENST00000357703.3_Silent_p.E548E|GHR_ENST00000537449.1_Silent_p.E383E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	570					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCACCACAGAAAGCCTTACCA	0.493																																																	0													113.0	93.0	100.0					5																	42719319		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1710A>G	5.37:g.42719319A>G			Q9HCX2	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E570	ENST00000230882.4	37	c.1710	CCDS3940.1	5																																																																																			GHR	-	NULL	ENSG00000112964		0.493	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2		0.00	44	0	A	NM_000163		42719319	+1			no_errors	ENST00000230882	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	G
GPR161	23432	genome.wustl.edu	37	1	168066418	168066418	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:168066418G>A	ENST00000367838.1	-	5	740	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	GPR161_ENST00000367836.1_Missense_Mutation_p.R11W|GPR161_ENST00000271357.5_Missense_Mutation_p.R143W|GPR161_ENST00000361697.2_Missense_Mutation_p.R143W|GPR161_ENST00000546300.1_Missense_Mutation_p.R29W|GPR161_ENST00000537209.1_Missense_Mutation_p.R163W|GPR161_ENST00000539777.1_Missense_Mutation_p.R65W|GPR161_ENST00000367835.1_Missense_Mutation_p.R143W	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	143					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					ATCACAGCCCGGTTCCCTGTG	0.542																																																	0													79.0	68.0	72.0					1																	168066418		2203	4300	6503	SO:0001583	missense	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.427C>T	1.37:g.168066418G>A	ENSP00000356812:p.Arg143Trp		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R163W	ENST00000367838.1	37	c.487	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547785	0.65311	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	4.98	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.87456	2.885	0.51233	D	0.999919	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;0.999;0.999;0.998;0.999	T	0.63821	-0.6550	9	0.87932	D	0	-24.2157	6.9499	0.24540	0.0878:0.0:0.6272:0.2849	.	163;29;65;163;143;143	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	W	143;143;11;143;29;65;163;143	ENSP00000356812:R143W;ENSP00000271357:R143W;ENSP00000356810:R11W;ENSP00000356809:R143W;ENSP00000444348:R29W;ENSP00000437576:R65W;ENSP00000441039:R163W;ENSP00000355194:R143W	ENSP00000271357:R143W	R	-	1	2	GPR161	166333042	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	3.980000	0.56895	1.236000	0.43740	0.561000	0.74099	CGG	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000143147		0.542	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1		0.00	42	0	G	NM_007369		168066418	-1			no_errors	ENST00000537209	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	A
GRIPAP1	56850	genome.wustl.edu	37	X	48847121	48847121	+	Silent	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:48847121G>T	ENST00000376441.1	-	8	700	c.666C>A	c.(664-666)tcC>tcA	p.S222S	GRIPAP1_ENST00000376444.3_Silent_p.S177S|GRIPAP1_ENST00000376423.4_Silent_p.S169S|GRIPAP1_ENST00000376425.3_Silent_p.S222S|GRIPAP1_ENST00000473581.1_5'UTR	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	222						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CCTGCAGCCTGGATGTTTCGG	0.562																																																	0													127.0	89.0	102.0					X																	48847121		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.666C>A	X.37:g.48847121G>T			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	superfamily_Prefoldin	p.S222	ENST00000376441.1	37	c.666	CCDS35248.1	X																																																																																			GRIPAP1	-	NULL	ENSG00000068400		0.562	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2		0.00	19	0	G	NM_207672		48847121	-1			no_errors	ENST00000376441	ensembl	human	known	74_37	silent	21.43	11	3	SNP	1.000	T
GUCD1	83606	genome.wustl.edu	37	22	24944925	24944925	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:24944925G>A	ENST00000407471.3	-	2	278	c.88C>T	c.(88-90)Cac>Tac	p.H30Y	GUCD1_ENST00000404664.3_Missense_Mutation_p.H86Y|GUCD1_ENST00000447813.2_Missense_Mutation_p.H30Y|GUCD1_ENST00000435822.1_Missense_Mutation_p.H30Y|GUCD1_ENST00000490922.1_5'Flank|GUCD1_ENST00000402766.1_Missense_Mutation_p.H30Y	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	30																	CAGTCCCAGTGGTAGAGCTGC	0.632																																																	0													49.0	40.0	43.0					22																	24944925		2200	4296	6496	SO:0001583	missense	0			AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 13"""	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.88C>T	22.37:g.24944925G>A	ENSP00000386076:p.His30Tyr		B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	pfam_Guanylyl_cyclase	p.H30Y	ENST00000407471.3	37	c.88	CCDS33621.1	22	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715049	0.89112	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664;ENST00000447813;ENST00000402766;ENST00000407973	.	.	.	5.07	5.07	0.68467	.	0.098404	0.64402	D	0.000001	T	0.78020	0.4218	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.998;0.997;0.998	D;D;D;D;D	0.87578	0.998;0.98;0.972;0.995;0.98	T	0.79631	-0.1723	9	0.56958	D	0.05	-46.8888	17.4107	0.87485	0.0:0.0:1.0:0.0	.	30;86;94;30;30	E9PGZ7;B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;.;CV013_HUMAN	Y	30;30;86;30;30;30	.	ENSP00000381297:H30Y	H	-	1	0	C22orf13	23274925	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.558000	0.90704	2.350000	0.79820	0.462000	0.41574	CAC	GUCD1	-	pfam_Guanylyl_cyclase	ENSG00000138867		0.632	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GUCD1	HGNC	protein_coding	OTTHUMT00000319819.1		0.00	26	0	G	NM_031444		24944925	-1			no_errors	ENST00000407471	ensembl	human	known	74_37	missense	30.36	39	17	SNP	1.000	A
HADHA	3030	genome.wustl.edu	37	2	26435399	26435399	+	Intron	SNP	C	C	T	rs375484761		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:26435399C>T	ENST00000380649.3	-	10	1105				HADHA_ENST00000457468.2_Missense_Mutation_p.G252R	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit						cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTAGTTTTCCTTTAACTGAT	0.333																																																	0													58.0	57.0	57.0					2																	26435399		2203	4300	6503	SO:0001627	intron_variant	0			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.975+39G>A	2.37:g.26435399C>T			B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.G252R	ENST00000380649.3	37	c.754	CCDS1721.1	2	.	.	.	.	.	.	.	.	.	.	C	4.897	0.166660	0.09339	.	.	ENSG00000084754	ENST00000457468	T	0.81415	-1.49	5.32	-1.31	0.09230	.	.	.	.	.	T	0.67702	0.2921	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55630	-0.8111	8	0.87932	D	0	.	4.6124	0.12409	0.1485:0.3796:0.0:0.4719	.	252	B4DYP2	.	R	252	ENSP00000405344:G252R	ENSP00000405344:G252R	G	-	1	0	HADHA	26288903	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.641000	0.05434	-0.519000	0.06444	-0.143000	0.13931	GGA	HADHA	-	NULL	ENSG00000084754		0.333	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADHA	HGNC	protein_coding	OTTHUMT00000214051.1		0.00	30	0	C	NM_000182		26435399	-1			no_errors	ENST00000457468	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.000	T
HCFC2	29915	genome.wustl.edu	37	12	104458353	104458353	+	Silent	SNP	C	C	T	rs370124268		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:104458353C>T	ENST00000229330.4	+	1	119	c.15C>T	c.(13-15)agC>agT	p.S5S	GLT8D2_ENST00000548660.1_5'Flank	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	5					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CGGCTCCCAGCCTCCTCAACT	0.701																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													10.0	13.0	12.0					12																	104458353		2183	4264	6447	SO:0001819	synonymous_variant	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.15C>T	12.37:g.104458353C>T			B2R8Q5|C0H5X3	Silent	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S5	ENST00000229330.4	37	c.15	CCDS9097.1	12																																																																																			HCFC2	-	NULL	ENSG00000111727		0.701	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1		0.00	16	0	C	NM_013320		104458353	+1			no_errors	ENST00000229330	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.999	T
HDHD2	84064	genome.wustl.edu	37	18	44639384	44639384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr18:44639384G>A	ENST00000300605.6	-	6	792	c.640C>T	c.(640-642)Caa>Taa	p.Q214*	HDHD2_ENST00000587841.1_5'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	214						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						CCGACATCTTGAGCCCCACCA	0.383																																																	0													141.0	122.0	129.0					18																	44639384		2203	4300	6503	SO:0001587	stop_gained	0			AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.640C>T	18.37:g.44639384G>A	ENSP00000300605:p.Gln214*		A8K7T3|Q96NV4	Nonsense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	p.Q214*	ENST00000300605.6	37	c.640	CCDS32829.1	18	.	.	.	.	.	.	.	.	.	.	G	36	5.933391	0.97116	.	.	ENSG00000167220	ENST00000300605	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.8062	20.0471	0.97613	0.0:0.0:1.0:0.0	.	.	.	.	X	214	.	ENSP00000300605:Q214X	Q	-	1	0	HDHD2	42893382	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.513000	0.98010	2.815000	0.96918	0.561000	0.74099	CAA	HDHD2	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	ENSG00000167220		0.383	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HDHD2	HGNC	protein_coding	OTTHUMT00000450668.2		0.00	35	0	G	NM_032124		44639384	-1			no_errors	ENST00000300605	ensembl	human	known	74_37	nonsense	12.44	169	24	SNP	1.000	A
HEATR5B	54497	genome.wustl.edu	37	2	37268370	37268370	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:37268370C>G	ENST00000233099.5	-	19	2857	c.2762G>C	c.(2761-2763)cGt>cCt	p.R921P	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R921P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	921						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACCAACATAACGATGCAAACA	0.428																																																	0													172.0	151.0	158.0					2																	37268370		2203	4300	6503	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2762G>C	2.37:g.37268370C>G	ENSP00000233099:p.Arg921Pro		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R921P	ENST00000233099.5	37	c.2762	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.151404	0.94645	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.07567	3.18;3.18	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32508	-0.9904	10	0.72032	D	0.01	-17.0957	19.2841	0.94063	0.0:1.0:0.0:0.0	.	921	Q9P2D3	HTR5B_HUMAN	P	921	ENSP00000233099:R921P;ENSP00000346531:R921P	ENSP00000233099:R921P	R	-	2	0	HEATR5B	37121874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.535000	0.85469	0.655000	0.94253	CGT	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1		0.00	54	0	C	NM_019024		37268370	-1			no_errors	ENST00000233099	ensembl	human	known	74_37	missense	7.41	49	4	SNP	1.000	G
HIST1H2AC	8334	genome.wustl.edu	37	6	26124702	26124702	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:26124702C>A	ENST00000602637.1	+	1	272	c.242C>A	c.(241-243)cCg>cAg	p.P81Q	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.P81Q|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	81						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CGCATCATCCCGCGCCACTTG	0.642																																																	0													104.0	101.0	102.0					6																	26124702		2203	4300	6503	SO:0001583	missense	0			Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.242C>A	6.37:g.26124702C>A	ENSP00000473534:p.Pro81Gln		B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.P81Q	ENST00000602637.1	37	c.242	CCDS4585.1	6	.	.	.	.	.	.	.	.	.	.	.	23.7	4.443515	0.83993	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.71579	-0.58;-0.58	5.5	5.5	0.81552	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44285	D	0.000479	D	0.90229	0.6945	H	0.98370	4.215	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.93444	0.6796	10	0.87932	D	0	.	18.7477	0.91800	0.0:1.0:0.0:0.0	.	81	Q93077	H2A1C_HUMAN	Q	81	ENSP00000367022:P81Q;ENSP00000321389:P81Q	ENSP00000321389:P81Q	P	+	2	0	HIST1H2AC	26232681	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.726000	0.84824	2.750000	0.94351	0.467000	0.42956	CCG	HIST1H2AC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000180573		0.642	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AC	HGNC	protein_coding	OTTHUMT00000468023.1		0.00	85	0	C	NM_003512		26124702	+1			no_errors	ENST00000314088	ensembl	human	known	74_37	missense	31.94	49	23	SNP	1.000	A
HIST1H2BH	8345	genome.wustl.edu	37	6	26252158	26252158	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:26252158G>C	ENST00000356350.2	+	1	280	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	94					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CACCTCCAGGGAGATCCAGAC	0.592																																																	0													80.0	85.0	84.0					6																	26252158		2203	4300	6503	SO:0001583	missense	0			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.280G>C	6.37:g.26252158G>C	ENSP00000348706:p.Glu94Gln		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E94Q	ENST00000356350.2	37	c.280	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	19.01	3.744654	0.69418	.	.	ENSG00000197459	ENST00000356350	T	0.50001	0.76	4.55	4.55	0.56014	Histone-fold (2);Histone core (1);	0.000000	0.40222	U	0.001155	T	0.80407	0.4617	H	0.99545	4.62	0.39487	D	0.967986	D	0.76494	0.999	D	0.72625	0.978	D	0.89469	0.3742	10	0.87932	D	0	.	17.152	0.86780	0.0:0.0:1.0:0.0	.	94	Q93079	H2B1H_HUMAN	Q	94	ENSP00000348706:E94Q	ENSP00000348706:E94Q	E	+	1	0	HIST1H2BH	26360137	1.000000	0.71417	0.994000	0.49952	0.086000	0.17979	9.490000	0.97952	2.455000	0.83008	0.591000	0.81541	GAG	HIST1H2BH	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000197459		0.592	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1		0.00	65	0	G	NM_003524		26252158	+1			no_errors	ENST00000356350	ensembl	human	known	74_37	missense	26.92	38	14	SNP	1.000	C
HSF2	3298	genome.wustl.edu	37	6	122752627	122752627	+	Nonsense_Mutation	SNP	C	C	A	rs202207842		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:122752627C>A	ENST00000368455.4	+	12	1475	c.1283C>A	c.(1282-1284)tCg>tAg	p.S428*	HSF2_ENST00000452194.1_Nonsense_Mutation_p.S410*	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	428					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CAGCCAGTTTCGGAAGAGGGA	0.313																																																	0													39.0	40.0	40.0					6																	122752627		2202	4297	6499	SO:0001587	stop_gained	0			M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1283C>A	6.37:g.122752627C>A	ENSP00000357440:p.Ser428*		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Nonsense_Mutation	SNP	pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.S428*	ENST00000368455.4	37	c.1283	CCDS5124.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.261196	0.95368	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.44	3.65	0.41850	.	0.301618	0.28612	N	0.014721	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.261	8.4778	0.33023	0.0:0.7629:0.1549:0.0822	.	.	.	.	X	428;410	.	ENSP00000357440:S428X	S	+	2	0	HSF2	122794326	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	2.934000	0.48956	0.842000	0.35045	-0.181000	0.13052	TCG	HSF2	-	pfam_Vert_HSTF_C	ENSG00000025156		0.313	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2	HGNC	protein_coding	OTTHUMT00000043520.1		0.00	35	0	C	NM_004506		122752627	+1			no_errors	ENST00000368455	ensembl	human	known	74_37	nonsense	8.33	22	2	SNP	1.000	A
HSPG2	3339	genome.wustl.edu	37	1	22178378	22178378	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:22178378G>A	ENST00000374695.3	-	54	6991	c.6912C>T	c.(6910-6912)gcC>gcT	p.A2304A	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2304	Ig-like C2-type 8.				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)	GTCCCGCATCGGCAGGTGAGG	0.657																																																	0																																										SO:0001819	synonymous_variant	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.6912C>T	1.37:g.22178378G>A			Q16287|Q5SZI3|Q9H3V5	Silent	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.A2304	ENST00000374695.3	37	c.6912	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0.00	27	0	G	NM_005529		22178378	-1			no_errors	ENST00000374695	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.001	A
IL32	9235	genome.wustl.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:3119294C>A	ENST00000534507.1	+	6	854	c.643C>A	c.(643-645)Cca>Aca	p.P215T	IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000525643.2_Missense_Mutation_p.P169T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582																																																	1	Substitution - Missense(1)	lung(1)											95.0	124.0	114.0					16																	3119294		2197	4300	6497	SO:0001583	missense	0			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.643C>A	16.37:g.3119294C>A	ENSP00000431775:p.Pro215Thr		A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	NULL	p.P215T	ENST00000534507.1	37	c.643		16	.	.	.	.	.	.	.	.	.	.	C	4.454	0.084032	0.08583	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.42;0.44;0.42;0.4;0.42;0.42;0.42;0.42;0.4;0.42;0.44;0.42;0.43;0.42;0.42;0.43;0.44;0.42;0.42;0.4;0.44;0.44;0.42;0.43;0.44;0.42;0.42	1.71	-0.364	0.12553	.	.	.	.	.	T	0.40694	0.1127	N	0.08118	0	0.09310	N	1	P;P;P;P;P;P;P	0.51449	0.833;0.938;0.938;0.833;0.833;0.938;0.945	B;B;B;B;B;B;P	0.56648	0.151;0.192;0.192;0.197;0.151;0.192;0.803	T	0.26710	-1.0095	9	0.87932	D	0	.	4.0362	0.09730	0.0:0.5866:0.0:0.4134	.	129;149;160;149;215;169;112	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	T	169;215;159;112;149;169;169;169;112;169;215;169;149;169;169;149;215;160;169;112;193;215;169;149;206;160;129	ENSP00000324742:P169T;ENSP00000431775:P215T;ENSP00000433177:P159T;ENSP00000380096:P112T;ENSP00000436937:P149T;ENSP00000450364:P169T;ENSP00000405063:P169T;ENSP00000437020:P169T;ENSP00000447496:P112T;ENSP00000432218:P169T;ENSP00000448354:P215T;ENSP00000432850:P169T;ENSP00000433747:P149T;ENSP00000411958:P169T;ENSP00000432917:P169T;ENSP00000008180:P149T;ENSP00000380099:P215T;ENSP00000446624:P160T;ENSP00000436929:P169T;ENSP00000447812:P112T;ENSP00000447033:P193T;ENSP00000449483:P215T;ENSP00000448683:P169T;ENSP00000446978:P149T;ENSP00000449147:P206T;ENSP00000371648:P160T;ENSP00000447979:P129T	ENSP00000008180:P149T	P	+	1	0	IL32	3059295	0.142000	0.22610	0.000000	0.03702	0.001000	0.01503	0.729000	0.26028	-0.050000	0.13356	0.543000	0.68304	CCA	IL32	-	NULL	ENSG00000008517		0.582	IL32-002	KNOWN	basic	protein_coding	IL32	HGNC	protein_coding	OTTHUMT00000394812.2		0.00	47	0	C	NM_004221		3119294	+1			no_errors	ENST00000396890	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	A
INSR	3643	genome.wustl.edu	37	19	7152788	7152788	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:7152788G>A	ENST00000302850.5	-	10	2322	c.2180C>T	c.(2179-2181)tCg>tTg	p.S727L	INSR_ENST00000341500.5_Missense_Mutation_p.S727L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	727					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTTCCTAAACGAGGACTCCTC	0.542																																																	0													179.0	156.0	164.0					19																	7152788		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2180C>T	19.37:g.7152788G>A	ENSP00000303830:p.Ser727Leu		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.S727L	ENST00000302850.5	37	c.2180	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127655	0.56721	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.71103	-0.54;-0.54	5.79	5.79	0.91817	Fibronectin, type III (2);	0.172994	0.27604	N	0.018626	T	0.70806	0.3266	M	0.69358	2.11	0.35447	D	0.79537	B;B;B	0.18968	0.032;0.013;0.003	B;B;B	0.15870	0.011;0.014;0.004	T	0.72530	-0.4265	10	0.48119	T	0.1	.	17.5318	0.87817	0.0:0.0:1.0:0.0	.	718;727;727	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	L	727	ENSP00000303830:S727L;ENSP00000342838:S727L	ENSP00000303830:S727L	S	-	2	0	INSR	7103788	1.000000	0.71417	0.129000	0.21949	0.797000	0.45037	6.407000	0.73280	2.746000	0.94184	0.603000	0.83216	TCG	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000171105		0.542	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1		0.00	20	0	G			7152788	-1			no_errors	ENST00000302850	ensembl	human	known	74_37	missense	38.46	32	20	SNP	0.739	A
IPO4	79711	genome.wustl.edu	37	14	24657980	24657981	+	In_Frame_Ins	INS	-	-	CGG			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:24657980_24657981insCGG	ENST00000354464.6	-	1	189_190	c.13_14insCCG	c.(13-15)ggg>gCCGgg	p.4_5insA	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	4					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTGCTCTAGCCCGGCTGACTCC	0.673																																																	0																																										SO:0001652	inframe_insertion	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.11_13dupCCG	14.37:g.24657981_24657983dupCGG	ENSP00000346453:p.Ala4_Ala4dup		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	In_Frame_Ins	INS	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.5in_frame_insA	ENST00000354464.6	37	c.14_13	CCDS9616.1	14																																																																																			IPO4	-	superfamily_ARM-type_fold	ENSG00000196497		0.673	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4		0.00	9	0	0	NM_024658		24657981	-1			no_errors	ENST00000354464	ensembl	human	known	74_37	in_frame_ins	57.14	6	8	INS	0.998:0.993	CGG
IRF3	3661	genome.wustl.edu	37	19	50163082	50163082	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:50163082G>A	ENST00000597198.1	-	8	1488	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P	IRF3_ENST00000596822.1_Missense_Mutation_p.H58Y|IRF3_ENST00000599223.1_Silent_p.P242P|IRF3_ENST00000309877.7_Silent_p.P369P|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000600022.1_Silent_p.P96P|IRF3_ENST00000601291.1_Missense_Mutation_p.H375Y|IRF3_ENST00000593922.1_Silent_p.P223P|IRF3_ENST00000599144.1_Silent_p.P223P|IRF3_ENST00000600911.1_Missense_Mutation_p.H331Y|IRF3_ENST00000596765.1_Silent_p.P96P|IRF3_ENST00000377139.3_Silent_p.P369P|IRF3_ENST00000598808.1_Silent_p.P223P|IRF3_ENST00000377135.4_Silent_p.P242P			Q14653	IRF3_HUMAN	interferon regulatory factor 3	369					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGAGGCACGTGGGCACAACCT	0.607																																																	0													58.0	57.0	57.0					19																	50163082		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.1107C>T	19.37:g.50163082G>A			A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.H375Y	ENST00000597198.1	37	c.1123	CCDS12775.1	19																																																																																			IRF3	-	NULL	ENSG00000126456		0.607	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	HGNC	protein_coding	OTTHUMT00000465962.1		0.00	48	0	G	NM_001571		50163082	-1			no_errors	ENST00000601291	ensembl	human	putative	74_37	missense	6.56	57	4	SNP	0.996	A
ITGA4	3676	genome.wustl.edu	37	2	182374501	182374501	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:182374501G>T	ENST00000397033.2	+	16	2242	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	604					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CAATTCTTCAGCAGAAGAAAG	0.343																																																	0													85.0	76.0	79.0					2																	182374501		1833	4082	5915	SO:0001583	missense	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1812G>T	2.37:g.182374501G>T	ENSP00000380227:p.Gln604His		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q604H	ENST00000397033.2	37	c.1812	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460013	0.63401	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.46451	0.87;0.87	6.02	3.25	0.37280	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.63843	1.955	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52518	-0.8565	10	0.30854	T	0.27	.	10.7113	0.45984	0.2738:0.0:0.7262:0.0	.	426;604	Q59H74;P13612	.;ITA4_HUMAN	H	604	ENSP00000380227:Q604H;ENSP00000233573:Q604H	ENSP00000233573:Q604H	Q	+	3	2	ITGA4	182082746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.693000	0.25497	0.882000	0.36016	-0.142000	0.14014	CAG	ITGA4	-	pfam_Integrin_alpha-2	ENSG00000115232		0.343	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1		0.00	46	0	G			182374501	+1			no_errors	ENST00000397033	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
IZUMO2	126123	genome.wustl.edu	37	19	50666269	50666269	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:50666269C>G	ENST00000293405.3	-	1	183	c.183G>C	c.(181-183)gaG>gaC	p.E61D		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	61						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						AGAAAGGCCCCTCCATGCCCA	0.672																																																	0													41.0	47.0	45.0					19																	50666269		1989	4160	6149	SO:0001583	missense	0			AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.183G>C	19.37:g.50666269C>G	ENSP00000293405:p.Glu61Asp		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	NULL	p.E61D	ENST00000293405.3	37	c.183	CCDS12792.2	19	.	.	.	.	.	.	.	.	.	.	C	15.74	2.924107	0.52653	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.25912	1.77	3.49	0.105	0.14535	.	0.882121	0.09398	N	0.807645	T	0.24699	0.0599	L	0.34521	1.04	0.25516	N	0.987411	D	0.56035	0.974	P	0.51487	0.671	T	0.17561	-1.0365	10	0.44086	T	0.13	.	5.4147	0.16368	0.0:0.5907:0.0:0.4093	.	61	Q6UXV1	IZUM2_HUMAN	D	61	ENSP00000293405:E61D	ENSP00000293405:E61D	E	-	3	2	IZUMO2	55358081	0.995000	0.38212	0.998000	0.56505	0.555000	0.35460	0.440000	0.21592	0.101000	0.17610	-0.142000	0.14014	GAG	IZUMO2	-	NULL	ENSG00000161652		0.672	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO2	HGNC	protein_coding	OTTHUMT00000157232.1		0.00	49	0	C	NM_152358		50666269	-1			no_errors	ENST00000293405	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.998	G
KCNH6	81033	genome.wustl.edu	37	17	61619749	61619749	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:61619749C>T	ENST00000583023.1	+	9	2113	c.2102C>T	c.(2101-2103)gCg>gTg	p.A701V	KCNH6_ENST00000314672.5_Missense_Mutation_p.A701V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A648V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A648V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	701					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCGGCCTTTGCGGAGAGCTTC	0.632																																																	0													97.0	83.0	88.0					17																	61619749		2203	4300	6503	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2102C>T	17.37:g.61619749C>T	ENSP00000463533:p.Ala701Val		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.A701V	ENST00000583023.1	37	c.2102	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.194461	0.94960	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.97016	-4.21;-4.21	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.243360	0.33144	N	0.005234	D	0.95743	0.8615	L	0.40543	1.245	0.53005	D	0.999965	D;P;P;D	0.57257	0.979;0.882;0.879;0.966	B;B;P;P	0.52031	0.279;0.261;0.688;0.653	D	0.96197	0.9142	10	0.59425	D	0.04	.	17.687	0.88258	0.0:1.0:0.0:0.0	.	578;701;648;701	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	V	701;648	ENSP00000318212:A701V;ENSP00000396900:A648V	ENSP00000318212:A701V	A	+	2	0	KCNH6	58973481	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	6.083000	0.71326	2.148000	0.66965	0.467000	0.42956	GCG	KCNH6	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom	ENSG00000173826		0.632	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1		0.00	47	0	C	NM_030779		61619749	+1			no_errors	ENST00000583023	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T
KIAA0408	9729	genome.wustl.edu	37	6	127767634	127767634	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:127767634C>T	ENST00000483725.3	-	5	2166	c.1830G>A	c.(1828-1830)atG>atA	p.M610I	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	610										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTGTTGTTCCATTTGGAGCA	0.408																																																	0													198.0	187.0	191.0					6																	127767634		2203	4300	6503	SO:0001583	missense	0			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1830G>A	6.37:g.127767634C>T	ENSP00000435150:p.Met610Ile		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.M610I	ENST00000483725.3	37	c.1830	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	C	7.849	0.723524	0.15439	.	.	ENSG00000189367	ENST00000483725	T	0.21191	2.02	5.23	1.81	0.25067	.	2.420180	0.03288	N	0.187243	T	0.01421	0.0046	N	0.00538	-1.39	0.09310	N	0.99999	B	0.06786	0.001	B	0.06405	0.002	T	0.36672	-0.9738	10	0.14252	T	0.57	-0.5277	4.6794	0.12727	0.4351:0.3579:0.0:0.207	.	610	Q6ZU52	K0408_HUMAN	I	610	ENSP00000435150:M610I	ENSP00000435150:M610I	M	-	3	0	KIAA0408	127809327	0.432000	0.25554	0.995000	0.50966	0.976000	0.68499	0.220000	0.17660	0.511000	0.28236	0.655000	0.94253	ATG	KIAA0408	-	NULL	ENSG00000189367		0.408	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3		0.00	75	0	C	NM_014702		127767634	-1			no_errors	ENST00000483725	ensembl	human	novel	74_37	missense	11.43	31	4	SNP	0.800	T
KIAA1147	57189	genome.wustl.edu	37	7	141366131	141366131	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:141366131A>G	ENST00000536163.1	-	5	775	c.776T>C	c.(775-777)aTt>aCt	p.I259T	KIAA1147_ENST00000482493.1_Missense_Mutation_p.I155T|RP5-894A10.6_ENST00000602609.1_RNA	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	259										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					AAATATCAAAATGCGCTTTCG	0.468																																																	0													68.0	67.0	67.0					7																	141366131		1932	4136	6068	SO:0001583	missense	0			AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.776T>C	7.37:g.141366131A>G	ENSP00000445768:p.Ile259Thr		Q9ULS3	Missense_Mutation	SNP	pfam_DUF2347	p.I259T	ENST00000536163.1	37	c.776	CCDS47726.1	7	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724939	0.89298	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	5.31	5.31	0.75309	.	0.117942	0.56097	D	0.000033	T	0.80803	0.4693	M	0.87269	2.87	0.48830	D	0.999715	D	0.65815	0.995	D	0.65987	0.94	D	0.84776	0.0770	9	0.87932	D	0	-15.494	15.2503	0.73539	1.0:0.0:0.0:0.0	.	259	A4D1U4	LCHN_HUMAN	T	259;155	.	ENSP00000297761:I259T	I	-	2	0	KIAA1147	141012600	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.604000	0.90877	2.006000	0.58801	0.482000	0.46254	ATT	KIAA1147	-	pfam_DUF2347	ENSG00000257093		0.468	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1147	HGNC	protein_coding	OTTHUMT00000349104.1		0.00	47	0	A			141366131	-1			no_errors	ENST00000536163	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	G
KLHL8	57563	genome.wustl.edu	37	4	88104481	88104481	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:88104481C>T	ENST00000273963.5	-	4	1167	c.826G>A	c.(826-828)Gtc>Atc	p.V276I	KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000498875.2_Missense_Mutation_p.V200I|KLHL8_ENST00000512111.1_Missense_Mutation_p.V276I|KLHL8_ENST00000425278.2_Missense_Mutation_p.V93I	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	276					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTTTGCTTGACAATCTGTTCT	0.373																																																	0													148.0	140.0	143.0					4																	88104481		2203	4300	6503	SO:0001583	missense	0			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.826G>A	4.37:g.88104481C>T	ENSP00000273963:p.Val276Ile		Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V276I	ENST00000273963.5	37	c.826	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	C	9.783	1.175862	0.21704	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000512111	T;T;T;T	0.78595	-0.94;-0.84;-1.19;-0.94	5.51	5.51	0.81932	.	0.058794	0.64402	D	0.000002	T	0.48943	0.1528	N	0.02142	-0.665	0.80722	D	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.54173	-0.8333	10	0.02654	T	1	.	12.7182	0.57127	0.0:0.9249:0.0:0.0751	.	93;200;276	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	I	276;200;93;276	ENSP00000273963:V276I;ENSP00000426451:V200I;ENSP00000408854:V93I;ENSP00000424131:V276I	ENSP00000273963:V276I	V	-	1	0	KLHL8	88323505	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.418000	0.59828	2.579000	0.87056	0.591000	0.81541	GTC	KLHL8	-	pirsf_Kelch-like_gigaxonin	ENSG00000145332		0.373	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1		0.00	41	0	C			88104481	-1			no_errors	ENST00000273963	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	T
CFAP97	57587	genome.wustl.edu	37	4	186111979	186111979	+	Silent	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:186111979T>C	ENST00000458385.2	-	2	491	c.372A>G	c.(370-372)gtA>gtG	p.V124V	KIAA1430_ENST00000514798.1_Silent_p.V124V|KIAA1430_ENST00000296775.6_Silent_p.V124V	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		124										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CACCTTCTTTTACAATTTTGG	0.383																																																	0													70.0	65.0	66.0					4																	186111979		1884	4097	5981	SO:0001819	synonymous_variant	0																														ENST00000458385.2:c.372A>G	4.37:g.186111979T>C			B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	NULL	p.V124	ENST00000458385.2	37	c.372	CCDS47168.1	4																																																																																			KIAA1430	-	NULL	ENSG00000164323		0.383	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2		0.00	67	0	T			186111979	-1			no_errors	ENST00000296775	ensembl	human	known	74_37	silent	58.46	27	38	SNP	0.001	C
KPNB1	3837	genome.wustl.edu	37	17	45730174	45730174	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:45730174A>G	ENST00000290158.4	+	3	621	c.214A>G	c.(214-216)Atc>Gtc	p.I72V	KPNB1_ENST00000535458.2_5'UTR|KPNB1_ENST00000540627.1_5'UTR|KPNB1_ENST00000577918.1_3'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	72	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGATCCAGATATCAAGGCACA	0.438																																																	0													121.0	113.0	115.0					17																	45730174		2203	4300	6503	SO:0001583	missense	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.214A>G	17.37:g.45730174A>G	ENSP00000290158:p.Ile72Val		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.I72V	ENST00000290158.4	37	c.214	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	A	3.642	-0.073392	0.07184	.	.	ENSG00000108424	ENST00000290158	T	0.66815	-0.23	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.134780	0.50627	D	0.000108	T	0.38214	0.1032	N	0.05441	-0.05	0.32010	N	0.602183	B	0.02656	0.0	B	0.01281	0.0	T	0.43180	-0.9407	9	0.02654	T	1	-0.5847	7.8129	0.29241	0.843:0.0:0.157:0.0	.	72	Q14974	IMB1_HUMAN	V	72	ENSP00000290158:I72V	ENSP00000290158:I72V	I	+	1	0	KPNB1	43085173	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.746000	0.55127	1.974000	0.57490	0.379000	0.24179	ATC	KPNB1	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	ENSG00000108424		0.438	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	HGNC	protein_coding	OTTHUMT00000089755.2		0.00	31	0	A	NM_002265		45730174	+1			no_errors	ENST00000290158	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	G
KSR2	283455	genome.wustl.edu	37	12	117914382	117914382	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:117914382G>A	ENST00000339824.5	-	17	3196	c.2469C>T	c.(2467-2469)cgC>cgT	p.R823R	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Silent_p.R794R			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	823	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATTCTGGATGCGCAGTTTGT	0.602																																																	0													55.0	64.0	61.0					12																	117914382		2066	4225	6291	SO:0001819	synonymous_variant	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2469C>T	12.37:g.117914382G>A			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R823	ENST00000339824.5	37	c.2469		12																																																																																			KSR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171435		0.602	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2		0.00	42	0	G	NM_173598		117914382	-1			no_errors	ENST00000339824	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	A
LINC00922	283867	genome.wustl.edu	37	16	65388165	65388165	+	lincRNA	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:65388165G>A	ENST00000569736.1	-	0	665				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1				long intergenic non-protein coding RNA 922																		TTTATGTTGTGAATGTAGGTT	0.264																																																	0													48.0	42.0	44.0					16																	65388165		1729	3956	5685			0			BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65388165G>A				RNA	SNP	-	NULL	ENST00000569736.1	37	NULL		16																																																																																			LINC00922	-	-	ENSG00000261742		0.264	LINC00922-001	KNOWN	basic	lincRNA	LINC00922	HGNC	lincRNA	OTTHUMT00000420601.2		0.00	78	0	G	NR_027755		65388165	-1			no_errors	ENST00000564041	ensembl	human	known	74_37	rna	22.99	66	20	SNP	0.000	A
LINC00951	401260	genome.wustl.edu	37	6	40312262	40312262	+	lincRNA	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:40312262C>T	ENST00000373171.2	-	0	374				TDRG1_ENST00000451810.1_RNA|TDRG1_ENST00000448559.1_RNA	NR_038887.1				long intergenic non-protein coding RNA 951																		actagtgtggctccagctgcc	0.562																																																	0																																												0			AK123643, BC132805		6p21.2	2013-07-23			ENSG00000204092	ENSG00000204092		"""Long non-coding RNAs"""	48662	non-coding RNA	RNA, long non-coding						23872665	Standard	NR_038887		Approved	lincRNA-uc003opf.1, FLJ41649			OTTHUMG00000014658		6.37:g.40312262C>T				RNA	SNP	-	NULL	ENST00000373171.2	37	NULL		6																																																																																			LINC00951	-	-	ENSG00000204092		0.562	LINC00951-001	KNOWN	basic|exp_conf	lincRNA	LINC00951	HGNC	lincRNA	OTTHUMT00000040481.1		0.00	20	0	C			40312262	-1			no_errors	ENST00000373171	ensembl	human	known	74_37	rna	86.36	3	19	SNP	0.001	T
LIPE	3991	genome.wustl.edu	37	19	42914736	42914736	+	Missense_Mutation	SNP	C	C	T	rs141806189		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:42914736C>T	ENST00000244289.4	-	2	1418	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	381					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CAGGCAGCAGCGGGCTGTGTG	0.682																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	43.0	39.0	40.0		1142	4.9	1.0	19	dbSNP_134	40	0,8598		0,0,4299	no	missense	LIPE	NM_005357.2	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	381/1077	42914736	1,13003	2203	4299	6502	SO:0001583	missense	0			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1142G>A	19.37:g.42914736C>T	ENSP00000244289:p.Arg381His		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.R381H	ENST00000244289.4	37	c.1142	CCDS12607.1	19	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139148	0.77775	2.27E-4	0.0	ENSG00000079435	ENST00000244289	T	0.31247	1.5	4.95	4.95	0.65309	Hormone-sensitive lipase, N-terminal (1);	0.242388	0.34110	N	0.004252	T	0.41627	0.1167	L	0.27053	0.805	0.46458	D	0.999051	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.12785	-1.0534	10	0.30078	T	0.28	-16.9627	15.4746	0.75468	0.0:1.0:0.0:0.0	.	381;381	A8K8W7;Q05469	.;LIPS_HUMAN	H	381	ENSP00000244289:R381H	ENSP00000244289:R381H	R	-	2	0	LIPE	47606576	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.555000	0.60767	2.479000	0.83701	0.455000	0.32223	CGC	LIPE	-	pfam_HSL_N	ENSG00000079435		0.682	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1		0.00	29	0	C	NM_005357		42914736	-1			no_errors	ENST00000244289	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	T
LOC100287290	100287290	genome.wustl.edu	37	3	158460573	158460573	+	RNA	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:158460573G>T	ENST00000496842.1	+	0	160				RP11-379F4.4_ENST00000465477.1_RNA|RP11-379F4.4_ENST00000468242.1_RNA|RP11-379F4.4_ENST00000477589.1_RNA																							ATCTCAGGGAGCCTGGTTGGA	0.478																																																	0																																												0																															3.37:g.158460573G>T				RNA	SNP	-	NULL	ENST00000496842.1	37	NULL		3																																																																																			RP11-379F4.4	-	-	ENSG00000240207		0.478	RP11-379F4.4-002	KNOWN	basic|exp_conf	antisense	LOC100287290	Clone_based_vega_gene	antisense	OTTHUMT00000352355.1		0.00	44	0	G			158460573	+1			no_errors	ENST00000477589	ensembl	human	known	74_37	rna	30.12	58	25	SNP	0.004	T
LRFN4	78999	genome.wustl.edu	37	11	66627517	66627517	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:66627517G>A	ENST00000309602.4	+	2	2002	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	587						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CTGCTCTCTGGACCTGGGAGA	0.731																																																	0													4.0	6.0	5.0					11																	66627517		1964	3833	5797	SO:0001583	missense	0			BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1759G>A	11.37:g.66627517G>A	ENSP00000312535:p.Asp587Asn		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D587N	ENST00000309602.4	37	c.1759	CCDS8153.1	11	.	.	.	.	.	.	.	.	.	.	g	13.05	2.122421	0.37436	.	.	ENSG00000173621	ENST00000309602	T	0.57907	0.37	4.72	3.81	0.43845	.	0.000000	0.44688	D	0.000436	T	0.45716	0.1356	L	0.52011	1.625	0.80722	D	1	B	0.24258	0.1	B	0.20955	0.032	T	0.44847	-0.9301	10	0.66056	D	0.02	.	10.6353	0.45560	0.096:0.0:0.904:0.0	.	587	Q6PJG9	LRFN4_HUMAN	N	587	ENSP00000312535:D587N	ENSP00000312535:D587N	D	+	1	0	LRFN4	66384093	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	3.397000	0.52572	0.991000	0.38814	0.401000	0.26515	GAC	LRFN4	-	NULL	ENSG00000173621		0.731	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN4	HGNC	protein_coding	OTTHUMT00000393127.1		0.00	70	0	G	NM_024036		66627517	+1			no_errors	ENST00000309602	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	A
LRP6	4040	genome.wustl.edu	37	12	12274319	12274319	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:12274319G>T	ENST00000261349.4	-	23	4659	c.4583C>A	c.(4582-4584)cCc>cAc	p.P1528H	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.P1483H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1528					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGGTGTGGTGGGGGGTGCAAA	0.473																																																	0													106.0	110.0	108.0					12																	12274319		2203	4300	6503	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4583C>A	12.37:g.12274319G>T	ENSP00000261349:p.Pro1528His		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P1528H	ENST00000261349.4	37	c.4583	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370003	0.82573	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.98090	-4.1;-4.71	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000009	D	0.98623	0.9539	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99632	1.0986	10	0.87932	D	0	.	20.1821	0.98206	0.0:0.0:1.0:0.0	.	1483;1528	F5H7J9;O75581	.;LRP6_HUMAN	H	1528;1483	ENSP00000261349:P1528H;ENSP00000442472:P1483H	ENSP00000261349:P1528H	P	-	2	0	LRP6	12165586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.220000	0.95180	2.780000	0.95670	0.643000	0.83706	CCC	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6	ENSG00000070018		0.473	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1		0.00	32	0	G			12274319	-1			no_errors	ENST00000261349	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
LRRC40	55631	genome.wustl.edu	37	1	70671212	70671212	+	Silent	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:70671212C>T	ENST00000370952.3	-	1	91	c.12G>A	c.(10-12)ctG>ctA	p.L4L	SRSF11_ENST00000370951.1_5'Flank|SRSF11_ENST00000370950.3_5'Flank|SRSF11_ENST00000454435.2_5'Flank|SRSF11_ENST00000405432.1_5'Flank	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	4						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CTATCCGCTTCAGGCGCGACA	0.617																																																	0													39.0	38.0	39.0					1																	70671212		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.12G>A	1.37:g.70671212C>T			Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L4	ENST00000370952.3	37	c.12	CCDS646.1	1																																																																																			LRRC40	-	NULL	ENSG00000066557		0.617	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	HGNC	protein_coding	OTTHUMT00000025914.1		0.00	24	0	C	NM_017768		70671212	-1			no_errors	ENST00000370952	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.002	T
LTN1	26046	genome.wustl.edu	37	21	30342970	30342971	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr21:30342970_30342971insA	ENST00000361371.5	-	8	1157_1158	c.1078_1079insT	c.(1078-1080)tatfs	p.Y360fs	LTN1_ENST00000389195.2_Frame_Shift_Ins_p.Y406fs|LTN1_ENST00000389194.2_Frame_Shift_Ins_p.Y406fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	360					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AAGGTAAGGATATATGACAGTA	0.431																																																	0																																										SO:0001589	frameshift_variant	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1079dupT	21.37:g.30342971_30342971dupA	ENSP00000354977:p.Tyr360fs		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Ins	INS	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.Y406fs	ENST00000361371.5	37	c.1217_1216		21																																																																																			LTN1	-	superfamily_ARM-type_fold	ENSG00000198862		0.431	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1		0.00	55	0	0	NM_015565		30342971	-1			no_errors	ENST00000389194	ensembl	human	known	74_37	frame_shift_ins	60.00	16	24	INS	1.000:0.999	A
MAMDC4	158056	genome.wustl.edu	37	9	139753531	139753531	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:139753531C>T	ENST00000317446.2	+	24	3081	c.3031C>T	c.(3031-3033)Cgg>Tgg	p.R1011W	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.R1090W	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CGGGCATCGGCGGCACCAGTG	0.682																																																	0													13.0	16.0	15.0					9																	139753531		2130	4218	6348	SO:0001583	missense	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.3031C>T	9.37:g.139753531C>T	ENSP00000319388:p.Arg1011Trp			Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.R1090W	ENST00000317446.2	37	c.3268	CCDS7010.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.11|16.11	3.029637|3.029637	0.54790|0.54790	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02085	.|4.46;4.46	4.76|4.76	0.257|0.257	0.15574|0.15574	.|Concanavalin A-like lectin/glucanase (1);MAM domain (3);	.|0.237270	.|0.28322	.|N	.|0.015780	T|T	0.11452|0.11452	0.0279|0.0279	M|M	0.80183|0.80183	2.485|2.485	0.24306|0.24306	N|N	0.995105|0.995105	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.996	T|T	0.01528|0.01528	-1.1332|-1.1332	5|10	.|0.87932	.|D	.|0	-42.4383|-42.4383	13.7867|13.7867	0.63115|0.63115	0.7453:0.2547:0.0:0.0|0.7453:0.2547:0.0:0.0	.|.	.|1090;1011	.|Q6UXC1;Q6UXC1-2	.|AEGP_HUMAN;.	V|W	1075|1011;1090	.|ENSP00000319388:R1011W;ENSP00000411339:R1090W	.|ENSP00000319388:R1011W	A|R	+|+	2|1	0|2	MAMDC4|MAMDC4	138873352|138873352	0.002000|0.002000	0.14202|0.14202	0.211000|0.211000	0.23655|0.23655	0.766000|0.766000	0.43426|0.43426	-0.286000|-0.286000	0.08399|0.08399	0.056000|0.056000	0.16144|0.16144	-0.314000|-0.314000	0.08810|0.08810	GCG|CGG	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.682	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3		0.00	25	0	C	NM_206920		139753531	+1			no_errors	ENST00000445819	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.254	T
MAP6	4135	genome.wustl.edu	37	11	75298556	75298556	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:75298556T>C	ENST00000304771.3	-	4	2740	c.1990A>G	c.(1990-1992)Atg>Gtg	p.M664V	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.M335V	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	664	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TCAGAGACCATGGAACCTTGA	0.493																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)												0													170.0	155.0	160.0					11																	75298556		2200	4293	6493	SO:0001583	missense	0			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1990A>G	11.37:g.75298556T>C	ENSP00000307093:p.Met664Val		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	pfam_MAP6/FAM154	p.M664V	ENST00000304771.3	37	c.1990	CCDS31641.1	11	.	.	.	.	.	.	.	.	.	.	T	0.031	-1.336881	0.01287	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.39056	1.1	5.01	-5.8	0.02347	.	1.798120	0.02690	N	0.110485	T	0.14184	0.0343	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40059	-0.9583	10	0.02654	T	1	0.1771	8.707	0.34360	0.0:0.1752:0.2176:0.6072	.	664	Q96JE9	MAP6_HUMAN	V	664;335;335	ENSP00000307093:M664V	ENSP00000307093:M664V	M	-	1	0	MAP6	74976204	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.306000	0.01133	-1.099000	0.03034	-0.242000	0.12053	ATG	MAP6	-	NULL	ENSG00000171533		0.493	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP6	HGNC	protein_coding	OTTHUMT00000383527.1		0.00	49	0	T	NM_033063		75298556	-1			no_errors	ENST00000304771	ensembl	human	known	74_37	missense	51.52	16	17	SNP	0.000	C
MEPCE	56257	genome.wustl.edu	37	7	100028402	100028402	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:100028402C>T	ENST00000310512.2	+	1	1149	c.761C>T	c.(760-762)tCg>tTg	p.S254L	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	254					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTCTTGCTTCGCCACTCAAG	0.592																																																	0													129.0	141.0	137.0					7																	100028402		2203	4300	6503	SO:0001583	missense	0			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.761C>T	7.37:g.100028402C>T	ENSP00000308546:p.Ser254Leu		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	pfam_Bin3	p.S254L	ENST00000310512.2	37	c.761	CCDS5693.1	7	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458824	0.84317	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.17	4.17	0.49024	.	0.000000	0.64402	D	0.000001	T	0.69342	0.3100	L	0.49126	1.545	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.71679	-0.4520	9	0.56958	D	0.05	-2.8836	14.0318	0.64619	0.0:1.0:0.0:0.0	.	254	Q7L2J0	MEPCE_HUMAN	L	254	.	ENSP00000308546:S254L	S	+	2	0	MEPCE	99866338	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	6.607000	0.74163	2.164000	0.68074	0.313000	0.20887	TCG	MEPCE	-	NULL	ENSG00000146834		0.592	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPCE	HGNC	protein_coding	OTTHUMT00000339135.1		0.00	12	0	C			100028402	+1			no_errors	ENST00000310512	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	T
MFSD6	54842	genome.wustl.edu	37	2	191301211	191301211	+	Silent	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:191301211C>G	ENST00000392328.1	+	3	780	c.456C>G	c.(454-456)gtC>gtG	p.V152V	MFSD6_ENST00000281416.7_Silent_p.V152V	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	152					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TTGGATTTGTCAAACCTGCTA	0.428																																																	0													82.0	85.0	84.0					2																	191301211		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.456C>G	2.37:g.191301211C>G			D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.V152	ENST00000392328.1	37	c.456	CCDS2306.1	2																																																																																			MFSD6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000151690		0.428	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6	HGNC	protein_coding	OTTHUMT00000255931.1		0.00	20	0	C			191301211	+1			no_errors	ENST00000281416	ensembl	human	known	74_37	silent	34.29	23	12	SNP	0.979	G
MGAM	8972	genome.wustl.edu	37	7	141755858	141755858	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:141755858G>A	ENST00000549489.2	+	29	3637	c.3542G>A	c.(3541-3543)aGt>aAt	p.S1181N	MGAM_ENST00000475668.2_Missense_Mutation_p.S1181N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1181	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGGACGGCAGTGCCCATGGA	0.507																																																	0													36.0	34.0	35.0					7																	141755858		1955	4144	6099	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3542G>A	7.37:g.141755858G>A	ENSP00000447378:p.Ser1181Asn		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.S1181N	ENST00000549489.2	37	c.3542	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.351897	0.01256	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.87571	-2.27	4.11	0.808	0.18719	Glycoside hydrolase-type carbohydrate-binding (1);	0.366291	0.20062	N	0.100071	T	0.56202	0.1969	N	0.00778	-1.195	0.21105	N	0.999781	B	0.02656	0.0	B	0.04013	0.001	T	0.56123	-0.8031	10	0.02654	T	1	.	6.3974	0.21620	0.5321:0.0:0.4679:0.0	.	1181	O43451	MGA_HUMAN	N	1181;1181;1058	ENSP00000447378:S1181N	ENSP00000316431:S1058N	S	+	2	0	MGAM	141402327	0.999000	0.42202	1.000000	0.80357	0.323000	0.28346	0.945000	0.29056	0.292000	0.22492	0.313000	0.20887	AGT	MGAM	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000257335		0.507	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3		0.00	58	0	G			141755858	+1			no_errors	ENST00000549489	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	A
BIRC6	57448	genome.wustl.edu	37	2	32757250	32757250	+	Intron	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:32757250A>G	ENST00000421745.2	+	61	12425				MIR558_ENST00000384920.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTATTTTGGTATAGTAGCTCT	0.383																																					Pancreas(94;175 1509 16028 18060 45422)												0													57.0	52.0	54.0					2																	32757250		1568	3582	5150	SO:0001627	intron_variant	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12291+632A>G	2.37:g.32757250A>G			Q9ULD1	RNA	SNP	-	NULL	ENST00000421745.2	37	NULL	CCDS33175.2	2																																																																																			MIR558	-	-	ENSG00000207653		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR558	HGNC	protein_coding	OTTHUMT00000318769.3		0.00	23	0	A	NM_016252		32757250	+1			no_errors	ENST00000384920	ensembl	human	known	74_37	rna	30.00	28	12	SNP	0.003	G
MPDZ	8777	genome.wustl.edu	37	9	13221476	13221476	+	Silent	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:13221476C>A	ENST00000319217.7	-	7	1018	c.771G>T	c.(769-771)acG>acT	p.T257T	MPDZ_ENST00000381015.4_Silent_p.T257T|MPDZ_ENST00000381022.2_Silent_p.T257T|MPDZ_ENST00000447879.1_Silent_p.T257T|MPDZ_ENST00000541718.1_Silent_p.T257T|MPDZ_ENST00000546205.1_Silent_p.T257T|MPDZ_ENST00000536827.1_Silent_p.T257T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	257	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCAATTCAATCGTTTCCATGT	0.378																																																	0													108.0	102.0	104.0					9																	13221476		1904	4108	6012	SO:0001819	synonymous_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.771G>T	9.37:g.13221476C>A			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.T257	ENST00000319217.7	37	c.771		9																																																																																			MPDZ	-	superfamily_PDZ,pfscan_PDZ	ENSG00000107186		0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2		0.00	42	0	C	NM_003829		13221476	-1			no_errors	ENST00000319217	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.219	A
MUC17	140453	genome.wustl.edu	37	7	100696700	100696700	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:100696700G>A	ENST00000306151.4	+	11	13410	c.13346G>A	c.(13345-13347)gGc>gAc	p.G4449D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4449					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAAACATTGGCTTTGACATC	0.483																																																	0													90.0	86.0	87.0					7																	100696700		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13346G>A	7.37:g.100696700G>A	ENSP00000302716:p.Gly4449Asp		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.G4449D	ENST00000306151.4	37	c.13346	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902610	0.17760	.	.	ENSG00000169876	ENST00000306151	T	0.03889	3.77	5.49	3.65	0.41850	.	.	.	.	.	T	0.16257	0.0391	M	0.72118	2.19	0.26244	N	0.978824	D	0.76494	0.999	D	0.76575	0.988	T	0.07404	-1.0774	9	0.35671	T	0.21	.	7.4062	0.26991	0.0903:0.1691:0.7406:0.0	.	4449	Q685J3	MUC17_HUMAN	D	4449	ENSP00000302716:G4449D	ENSP00000302716:G4449D	G	+	2	0	MUC17	100483420	0.292000	0.24362	0.594000	0.28785	0.738000	0.42128	0.603000	0.24149	0.672000	0.31204	0.650000	0.86243	GGC	MUC17	-	NULL	ENSG00000169876		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1		0.00	30	0	G	NM_001040105		100696700	+1			no_errors	ENST00000306151	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.922	A
MYO7A	4647	genome.wustl.edu	37	11	76883862	76883862	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:76883862G>C	ENST00000409709.3	+	16	2138	c.1866G>C	c.(1864-1866)atG>atC	p.M622I	MYO7A_ENST00000458637.2_Missense_Mutation_p.M622I|MYO7A_ENST00000409619.2_Missense_Mutation_p.M611I|MYO7A_ENST00000409893.1_Missense_Mutation_p.M622I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	622	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTGCTGATGCGCACGCTGG	0.657																																																	0													20.0	24.0	23.0					11																	76883862		2028	4091	6119	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1866G>C	11.37:g.76883862G>C	ENSP00000386331:p.Met622Ile		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.M622I	ENST00000409709.3	37	c.1866	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702241	0.88924	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.77	4.77	0.60923	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.83012	2.62	0.80722	D	1	P;P;D	0.55800	0.927;0.918;0.973	P;P;D	0.69654	0.759;0.835;0.965	D	0.95267	0.8374	10	0.66056	D	0.02	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	622;622;622	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	I	622;622;622;611;621;621;498;621	ENSP00000386331:M622I;ENSP00000386689:M622I;ENSP00000392185:M622I;ENSP00000386635:M611I	ENSP00000345075:M498I	M	+	3	0	MYO7A	76561510	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.280000	0.95786	2.368000	0.80403	0.549000	0.68633	ATG	MYO7A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000137474		0.657	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1		0.00	63	0	G	NM_000260		76883862	+1			no_errors	ENST00000409709	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C
NBR2	10230	genome.wustl.edu	37	17	41297004	41297004	+	RNA	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:41297004G>T	ENST00000460115.1	+	0	1218					NR_003108.1		O15453	NBR2_HUMAN	neighbor of BRCA1 gene 2 (non-protein coding)																		TCCACCGAAGGGGCTGCCATG	0.582																																																	0																																												0			U88573		17q21	2012-10-16	2009-08-21		ENSG00000198496	ENSG00000198496		"""Long non-coding RNAs"""	20691	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 192"""		"""neighbor of BRCA1 gene 2"""			9215675, 15777733	Standard	NR_003108		Approved	NCRNA00192	uc002idf.3	O15453	OTTHUMG00000140395		17.37:g.41297004G>T			Q3LRJ7	RNA	SNP	-	NULL	ENST00000460115.1	37	NULL		17																																																																																			NBR2	-	-	ENSG00000198496		0.582	NBR2-001	KNOWN	basic	processed_transcript	NBR2	HGNC	pseudogene	OTTHUMT00000277175.1		0.00	23	0	G	NR_003108		41297004	+1			no_errors	ENST00000460115	ensembl	human	known	74_37	rna	12.90	27	4	SNP	0.002	T
NEK11	79858	genome.wustl.edu	37	3	130947497	130947497	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:130947497G>A	ENST00000510769.1	+	11	1463	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	NEK11_ENST00000510688.1_Missense_Mutation_p.E509K|NEK11_ENST00000383366.4_Missense_Mutation_p.E509K|NEK11_ENST00000412440.2_Missense_Mutation_p.E325K|NEK11_ENST00000429253.2_Missense_Mutation_p.E509K|NEK11_ENST00000508196.1_Missense_Mutation_p.E509K					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AATCAGGAATGAGGGATCCCA	0.448																																																	0													102.0	94.0	96.0					3																	130947497		2203	4300	6503	SO:0001583	missense	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1210G>A	3.37:g.130947497G>A	ENSP00000421549:p.Glu404Lys			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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E509K	ENST00000510769.1	37	c.1525		3	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627127	0.28978	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000510688;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T;T	0.72051	-0.56;-0.33;-0.4;-0.33;-0.62;-0.33	5.71	3.75	0.43078	.	1.081900	0.07355	N	0.883092	T	0.64249	0.2581	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.13594	0.001;0.001;0.008;0.007	B;B;B;B	0.16289	0.004;0.003;0.015;0.006	T	0.50890	-0.8774	10	0.35671	T	0.21	.	9.6986	0.40171	0.1763:0.0:0.8237:0.0	.	404;325;509;509	E9PHI8;B4DDN2;Q8NG66-4;Q8NG66	.;.;.;NEK11_HUMAN	K	404;509;509;509;325;509	ENSP00000421549:E404K;ENSP00000397180:E509K;ENSP00000423458:E509K;ENSP00000372857:E509K;ENSP00000411888:E325K;ENSP00000421851:E509K	ENSP00000372857:E509K	E	+	1	0	NEK11	132430187	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.013000	0.12678	0.640000	0.30582	0.609000	0.83330	GAG	NEK11	-	NULL	ENSG00000114670		0.448	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1		0.00	14	0	G	NM_024800		130947497	+1			no_errors	ENST00000383366	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.004	A
NFE2L2	4780	genome.wustl.edu	37	2	178098960	178098961	+	In_Frame_Ins	INS	-	-	TAT			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:178098960_178098961insTAT	ENST00000397062.3	-	2	638_639	c.84_85insATA	c.(82-87)atagat>ataATAgat	p.28_29insI	NFE2L2_ENST00000423513.1_In_Frame_Ins_p.12_13insI|NFE2L2_ENST00000446151.2_In_Frame_Ins_p.12_13insI|NFE2L2_ENST00000464747.1_In_Frame_Ins_p.12_13insI|NFE2L2_ENST00000397063.4_In_Frame_Ins_p.12_13insI	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	28					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGCC	0.361			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	15	Substitution - Missense(15)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)																																								SO:0001652	inframe_insertion	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.82_84dupATA	2.37:g.178098961_178098963dupTAT	ENSP00000380252:p.Ile28_Ile28dup		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	In_Frame_Ins	INS	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.28in_frame_insI	ENST00000397062.3	37	c.85_84	CCDS42782.1	2																																																																																			NFE2L2	-	NULL	ENSG00000116044		0.361	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0.00	36	0	0	NM_006164		178098961	-1			no_errors	ENST00000397062	ensembl	human	known	74_37	in_frame_ins	24.00	57	18	INS	1.000:0.992	TAT
NIN	51199	genome.wustl.edu	37	14	51259444	51259444	+	Missense_Mutation	SNP	C	C	A	rs143800977		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:51259444C>A	ENST00000382041.3	-	5	611	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C	NIN_ENST00000324330.9_Missense_Mutation_p.G141C|NIN_ENST00000530997.2_Missense_Mutation_p.G141C|NIN_ENST00000453196.1_Missense_Mutation_p.G141C|NIN_ENST00000486200.1_5'UTR|NIN_ENST00000389868.3_Missense_Mutation_p.G141C|NIN_ENST00000245441.5_Missense_Mutation_p.G141C|NIN_ENST00000382043.4_Missense_Mutation_p.G141C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	141					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.G141R(2)|p.G147R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTGCAGTCACCGGCTGGGATG	0.582			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	3	Substitution - Missense(3)	lung(3)											106.0	83.0	91.0					14																	51259444		2203	4300	6503	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.421G>T	14.37:g.51259444C>A	ENSP00000371472:p.Gly141Cys		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.G141C	ENST00000382041.3	37	c.421	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846029	0.32606	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	6.07	-0.281	0.12882	.	0.765479	0.12688	N	0.447437	T	0.22360	0.0539	N	0.22421	0.69	0.09310	N	1	P;B;B;P;B	0.51791	0.948;0.001;0.002;0.87;0.004	P;B;B;B;B	0.57057	0.812;0.006;0.005;0.366;0.015	T	0.17349	-1.0372	10	0.56958	D	0.05	0.2186	7.5339	0.27700	0.0:0.4902:0.1336:0.3762	.	147;141;141;141;141	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	C	141;141;141;141;147;141;141;141;103	ENSP00000245441:G141C;ENSP00000374518:G141C;ENSP00000371474:G141C;ENSP00000371472:G141C;ENSP00000324210:G141C;ENSP00000412391:G141C;ENSP00000398641:G103C	ENSP00000245441:G141C	G	-	1	0	NIN	50329194	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.391000	0.07323	-0.550000	0.06183	-0.982000	0.02568	GGT	NIN	-	NULL	ENSG00000100503		0.582	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2		0.00	43	0	C	NM_182946		51259444	-1			no_errors	ENST00000245441	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.006	A
NKD2	85409	genome.wustl.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	CAC	CAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																																	0																																										SO:0001651	inframe_deletion	0			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del		Q96EK8|Q9BSN0	In_Frame_Del	DEL	pfscan_EF_hand_dom	p.H442in_frame_del	ENST00000296849.5	37	c.1315_1317	CCDS3859.1	5																																																																																			NKD2	-	NULL	ENSG00000145506		0.690	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2		0.00	24	0	CAC	NM_033120		1038449	+1			no_errors	ENST00000296849	ensembl	human	known	74_37	in_frame_del	6.94	67	5	DEL	1.000:1.000:1.000	0
NMT2	9397	genome.wustl.edu	37	10	15183006	15183006	+	Intron	SNP	A	A	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:15183006A>T	ENST00000378165.4	-	2	327				NMT2_ENST00000535341.1_Missense_Mutation_p.F63I|NMT2_ENST00000540259.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.F63I	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2						intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TCCCGCTGAAATCTGCTGCCA	0.403																																					Melanoma(117;1345 1645 4130 12688 30625)												0																																										SO:0001627	intron_variant	0			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.246+414T>A	10.37:g.15183006A>T			B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.F63I	ENST00000378165.4	37	c.187	CCDS7109.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.368|8.368	0.834699|0.834699	0.16820|0.16820	.|.	.|.	ENSG00000152465|ENSG00000152465	ENST00000378150;ENST00000535341|ENST00000378143	.|.	.|.	.|.	5.48|5.48	3.15|3.15	0.36227|0.36227	.|.	.|0.604741	.|0.14712	.|N	.|0.302901	T|T	0.40015|0.40015	0.1100|0.1100	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.19583|.	0.037|.	B|.	0.12156|.	0.007|.	T|T	0.11966|0.11966	-1.0566|-1.0566	7|6	0.39692|0.17832	T|T	0.17|0.49	-4.2964|-4.2964	4.0406|4.0406	0.09750|0.09750	0.656:0.1936:0.1504:0.0|0.656:0.1936:0.1504:0.0	.|.	63|.	Q5VUC6|.	.|.	I|N	63|90	.|.	ENSP00000367392:F63I|ENSP00000367385:I90N	F|I	-|-	1|2	0|0	NMT2|NMT2	15223012|15223012	0.997000|0.997000	0.39634|0.39634	0.925000|0.925000	0.36789|0.36789	0.379000|0.379000	0.30106|0.30106	2.744000|2.744000	0.47450|0.47450	0.904000|0.904000	0.36572|0.36572	-0.321000|-0.321000	0.08615|0.08615	TTT|ATT	NMT2	-	pirsf_MyristoylCoA_TrFase	ENSG00000152465		0.403	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2		0.00	28	0	A	NM_004808		15183006	-1			no_errors	ENST00000378150	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.834	T
NOS3	4846	genome.wustl.edu	37	7	150695532	150695532	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:150695532C>T	ENST00000484524.1	+	5	670	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	NOS3_ENST00000467517.1_Missense_Mutation_p.L224F|NOS3_ENST00000461406.1_Missense_Mutation_p.L18F|NOS3_ENST00000297494.3_Missense_Mutation_p.L224F	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGGGCAACCTTCGGTGAGT	0.627																																																	0													50.0	44.0	46.0					7																	150695532		2192	4284	6476	SO:0001583	missense	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.670C>T	7.37:g.150695532C>T	ENSP00000420215:p.Leu224Phe		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L224F	ENST00000484524.1	37	c.670	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	c	18.75	3.689759	0.68271	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.1	2.15	0.27550	Nitric oxide synthase, oxygenase domain (3);	0.365786	0.22864	N	0.054712	T	0.51500	0.1678	M	0.82823	2.61	0.36618	D	0.875612	D;D;D;D;D	0.89917	0.994;0.994;0.997;0.996;1.0	D;D;D;D;D	0.75020	0.961;0.961;0.985;0.982;0.985	T	0.57991	-0.7715	10	0.87932	D	0	-23.5619	6.1013	0.20049	0.4911:0.4204:0.0:0.0884	.	224;224;224;18;224	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	F	224;18;224;224	ENSP00000297494:L224F;ENSP00000417143:L18F;ENSP00000420215:L224F;ENSP00000420551:L224F	ENSP00000297494:L224F	L	+	1	0	NOS3	150326465	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	1.169000	0.31871	0.598000	0.29829	0.573000	0.79308	CTT	NOS3	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000164867		0.627	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1		0.00	41	0	C	NM_000603		150695532	+1			no_errors	ENST00000297494	ensembl	human	known	74_37	missense	52.94	8	9	SNP	0.997	T
NR4A2	4929	genome.wustl.edu	37	2	157185008	157185008	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:157185008G>T	ENST00000339562.4	-	4	1264	c.902C>A	c.(901-903)gCa>gAa	p.A301E	NR4A2_ENST00000409572.1_Missense_Mutation_p.A301E|NR4A2_ENST00000426264.1_Missense_Mutation_p.A238E|NR4A2_ENST00000409108.2_Missense_Mutation_p.A301E|NR4A2_ENST00000429376.1_Missense_Mutation_p.A238E|NR4A2_ENST00000539077.1_Missense_Mutation_p.A312E	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	301					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GTTTTTATTTGCTAAACACAC	0.443																																																	0													85.0	82.0	83.0					2																	157185008		2203	4300	6503	SO:0001583	missense	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.902C>A	2.37:g.157185008G>T	ENSP00000344479:p.Ala301Glu		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.A312E	ENST00000339562.4	37	c.935	CCDS2201.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.949344|3.949344	0.73787|0.73787	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376|ENST00000406048	D;D;D;D;D;D|.	0.97114|.	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45657|0.45657	0.1353|0.1353	N|N	0.03999|0.03999	-0.3|-0.3	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.61722|.	0.893|.	T|T	0.40534|0.40534	-0.9558|-0.9558	10|5	0.19147|.	T|.	0.46|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	301|.	P43354|.	NR4A2_HUMAN|.	E|R	301;238;301;312;301;238|82	ENSP00000344479:A301E;ENSP00000389986:A238E;ENSP00000386747:A301E;ENSP00000444925:A312E;ENSP00000386993:A301E;ENSP00000410952:A238E|.	ENSP00000344479:A301E|.	A|S	-|-	2|3	0|2	NR4A2|NR4A2	156893254|156893254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.869000|9.869000	0.99810|0.99810	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GCA|AGC	NR4A2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000153234		0.443	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2		0.00	44	0	G			157185008	-1			no_errors	ENST00000539077	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
OASL	8638	genome.wustl.edu	37	12	121476752	121476752	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:121476752T>C	ENST00000257570.5	-	1	293	c.23A>G	c.(22-24)tAt>tGt	p.Y8C	OASL_ENST00000339275.5_Missense_Mutation_p.Y8C	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	8					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGTGTGCTATACAGTTCCTG	0.602																																					Colon(192;517 2041 31392 31913 39966)												0													61.0	53.0	56.0					12																	121476752		2203	4300	6503	SO:0001583	missense	0			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.23A>G	12.37:g.121476752T>C	ENSP00000257570:p.Tyr8Cys		B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.Y8C	ENST00000257570.5	37	c.23	CCDS9211.1	12	.	.	.	.	.	.	.	.	.	.	T	15.15	2.749270	0.49257	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.08984	3.03;3.03	5.66	0.111	0.14619	.	0.685486	0.13395	N	0.391117	T	0.25232	0.0613	M	0.78049	2.395	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	T	0.04203	-1.0969	10	0.51188	T	0.08	-11.5132	9.8544	0.41077	0.5861:0.0:0.0:0.4139	.	8;8	Q15646-2;Q15646	.;OASL_HUMAN	C	8	ENSP00000257570:Y8C;ENSP00000341125:Y8C	ENSP00000257570:Y8C	Y	-	2	0	OASL	119961135	0.100000	0.21855	0.019000	0.16419	0.001000	0.01503	0.139000	0.16036	0.063000	0.16370	-0.327000	0.08410	TAT	OASL	-	NULL	ENSG00000135114		0.602	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2		0.00	27	0	T	NM_003733		121476752	-1			no_errors	ENST00000257570	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.075	C
ODAM	54959	genome.wustl.edu	37	4	71062448	71062448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:71062448G>T	ENST00000396094.2	+	2	139	c.91G>T	c.(91-93)Gag>Tag	p.E31*		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	31					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)		p.E31K(1)|p.E31*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAATAGCAATGAGGTTAGTTT	0.323																																																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)											56.0	51.0	52.0					4																	71062448		1818	4080	5898	SO:0001587	stop_gained	0			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.91G>T	4.37:g.71062448G>T	ENSP00000379401:p.Glu31*		Q8WWE5|Q9NWZ9	Nonsense_Mutation	SNP	NULL	p.E31*	ENST00000396094.2	37	c.91	CCDS3536.2	4	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005196	0.74932	.	.	ENSG00000109205	ENST00000396094	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.0321	14.5147	0.67811	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000379401:E31X	E	+	1	0	ODAM	71097037	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	4.235000	0.58666	2.804000	0.96469	0.650000	0.86243	GAG	ODAM	-	NULL	ENSG00000109205		0.323	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	HGNC	protein_coding	OTTHUMT00000251562.1		0.00	19	0	G	NM_017855		71062448	+1			no_errors	ENST00000396094	ensembl	human	known	74_37	nonsense	18.18	17	4	SNP	1.000	T
OLA1	29789	genome.wustl.edu	37	2	175087808	175087809	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:175087808_175087809GC>AA	ENST00000409546.1	-	4	1015_1016	c.385_386GC>TT	c.(385-387)GCt>TTt	p.A129F	OLA1_ENST00000344357.5_5'UTR|OLA1_ENST00000284719.3_Missense_Mutation_p.A109F|OLA1_ENST00000428402.2_Missense_Mutation_p.A109F					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						AGATAAAAAAGCATTCCCCAGG	0.386																																																	0																																										SO:0001583	missense	0				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.385_386delinsAA	2.37:g.175087808_175087809delinsAA	ENSP00000386350:p.Ala129Phe			Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.A109V|p.A109S	ENST00000409546.1	37	c.326|c.325		2																																																																																			OLA1	-	pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	ENSG00000138430		0.386	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333877.1		0.00	26	0	G|C	NM_013341		175087808|175087809	-1			no_errors	ENST00000284719	ensembl	human	known	74_37	missense	22.22|19.23	21	6|5	SNP	1.000	A
OLFML2B	25903	genome.wustl.edu	37	1	161953792	161953792	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:161953792G>C	ENST00000294794.3	-	8	2349	c.1926C>G	c.(1924-1926)agC>agG	p.S642R	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S643R|OLFML2B_ENST00000367938.1_Missense_Mutation_p.S125R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	642	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGACCTCCTGGCTGAAGCCCT	0.612																																																	0													78.0	70.0	72.0					1																	161953792		2203	4300	6503	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1926C>G	1.37:g.161953792G>C	ENSP00000294794:p.Ser642Arg		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	p.S642R	ENST00000294794.3	37	c.1926	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669541	0.29693	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.87334	-2.24;-2.24;-2.22	5.36	5.36	0.76844	Olfactomedin-like (3);	.	.	.	.	D	0.83482	0.5264	M	0.72894	2.215	0.25382	N	0.988608	P;P	0.34699	0.464;0.464	B;B	0.39971	0.315;0.222	D	0.86020	0.1506	8	0.62326	D	0.03	.	11.6415	0.51235	0.0:0.0:0.8225:0.1775	.	643;642	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	R	642;643;125	ENSP00000294794:S642R;ENSP00000356917:S643R;ENSP00000356915:S125R	ENSP00000294794:S642R	S	-	3	2	OLFML2B	160220416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.418000	0.44662	2.491000	0.84063	0.561000	0.74099	AGC	OLFML2B	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2		0.00	51	0	G	NM_015441		161953792	-1			no_errors	ENST00000294794	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	C
OPN3	23596	genome.wustl.edu	37	1	241755423	241755423	+	IGR	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:241755423C>G	ENST00000366554.2	-	0	2620				KMO_ENST00000366557.4_Missense_Mutation_p.L443V|OPN3_ENST00000469376.1_5'Flank|KMO_ENST00000366559.4_Missense_Mutation_p.L477V|KMO_ENST00000366558.3_Missense_Mutation_p.L464V	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGTGGACTCCCTAGAACAAAT	0.423																																																	0													78.0	69.0	72.0					1																	241755423		2203	4300	6503	SO:0001628	intergenic_variant	0			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241755423C>G			Q8IX08|Q9Y344	Splice_Site	SNP	-	NULL	ENST00000366554.2	37	c.NULL	CCDS31072.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.23|11.23	1.577294|1.577294	0.28092|0.28092	.|.	.|.	ENSG00000117009|ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557|ENST00000366555	T;T;T|.	0.54675|.	0.84;0.84;0.56|.	5.29|5.29	2.13|2.13	0.27403|0.27403	.|.	1.828720|.	0.02736|.	N|.	0.115684|.	T|T	0.23249|0.23249	0.0562|0.0562	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999992|0.999992	B|.	0.15930|.	0.015|.	B|.	0.21151|.	0.033|.	T|T	0.20207|0.20207	-1.0282|-1.0282	10|5	0.27082|.	T|.	0.32|.	.|.	5.3934|5.3934	0.16257|0.16257	0.3824:0.5225:0.0:0.0951|0.3824:0.5225:0.0:0.0951	.|.	477|.	O15229|.	KMO_HUMAN|.	V|R	477;464;443|162	ENSP00000355517:L477V;ENSP00000355516:L464V;ENSP00000355515:L443V|.	ENSP00000355515:L443V|.	L|P	+|+	1|2	2|0	KMO|KMO	239822046|239822046	0.475000|0.475000	0.25894|0.25894	0.248000|0.248000	0.24265|0.24265	0.006000|0.006000	0.05464|0.05464	0.293000|0.293000	0.19029|0.19029	0.787000|0.787000	0.33731|0.33731	0.650000|0.650000	0.86243|0.86243	CTA|CCT	OPN3	-	-	ENSG00000054277		0.423	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN3	HGNC	protein_coding	OTTHUMT00000095713.1		0.00	27	0	C	NM_014322		241755423	-1			no_errors	ENST00000462265	ensembl	human	known	74_37	splice_site	36.73	31	18	SNP	0.144	G
OR10H4	126541	genome.wustl.edu	37	19	16059901	16059901	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:16059901G>C	ENST00000322107.1	+	1	84	c.84G>C	c.(82-84)ttG>ttC	p.L28F		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGCCCATCTTGTTCCTGCTGT	0.488																																																	0													299.0	266.0	277.0					19																	16059901		2203	4300	6503	SO:0001583	missense	0			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.84G>C	19.37:g.16059901G>C	ENSP00000318834:p.Leu28Phe		Q6IFJ2|Q96R57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L28F	ENST00000322107.1	37	c.84	CCDS32941.1	19	.	.	.	.	.	.	.	.	.	.	g	2.400	-0.337738	0.05278	.	.	ENSG00000176231	ENST00000322107	T	0.17213	2.29	1.53	-3.06	0.05379	.	0.398568	0.18148	N	0.150196	T	0.09158	0.0226	L	0.35793	1.09	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.26643	-1.0097	10	0.23891	T	0.37	.	3.7771	0.08665	0.4268:0.3355:0.2377:0.0	.	28	Q8NGA5	O10H4_HUMAN	F	28	ENSP00000318834:L28F	ENSP00000318834:L28F	L	+	3	2	OR10H4	15920901	0.585000	0.26774	0.007000	0.13788	0.020000	0.10135	-0.109000	0.10840	-0.857000	0.04115	-0.529000	0.04317	TTG	OR10H4	-	prints_GPCR_Rhodpsn	ENSG00000176231		0.488	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	HGNC	protein_coding	OTTHUMT00000460311.1		0.00	90	0	G			16059901	+1			no_errors	ENST00000322107	ensembl	human	known	74_37	missense	17.05	106	22	SNP	0.019	C
OR2M7	391196	genome.wustl.edu	37	1	248487277	248487277	+	Silent	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:248487277A>G	ENST00000317965.2	-	1	622	c.594T>C	c.(592-594)gtT>gtC	p.V198V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V198V(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGAAAATAACCTCTTCAA	0.438																																																	1	Substitution - coding silent(1)	endometrium(1)											245.0	239.0	241.0					1																	248487277		2203	4297	6500	SO:0001819	synonymous_variant	0			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.594T>C	1.37:g.248487277A>G			B2RNL0|Q6IEX6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V198	ENST00000317965.2	37	c.594	CCDS31111.1	1																																																																																			OR2M7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177186		0.438	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1		0.00	138	0	A	NM_001004691		248487277	-1			no_errors	ENST00000317965	ensembl	human	known	74_37	silent	29.85	94	40	SNP	0.000	G
OR4C15	81309	genome.wustl.edu	37	11	55322499	55322499	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:55322499G>A	ENST00000314644.2	+	1	717	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CGTTACTGGAGCTTGCCTGCA	0.433										HNSCC(20;0.049)																																							0													134.0	91.0	105.0					11																	55322499		2201	4296	6497	SO:0001819	synonymous_variant	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.717G>A	11.37:g.55322499G>A			Q6IFE2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E239	ENST00000314644.2	37	c.717	CCDS31501.1	11																																																																																			OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181939		0.433	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1		0.00	41	0	G	NM_001001920		55322499	+1			no_errors	ENST00000314644	ensembl	human	known	74_37	silent	37.88	41	25	SNP	0.274	A
OR4M2	390538	genome.wustl.edu	37	15	22368839	22368839	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr15:22368839G>A	ENST00000332663.2	+	1	362	c.264G>A	c.(262-264)gaG>gaA	p.E88E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTTTGTGGAGAGGAAGATAA	0.443																																																	0													350.0	299.0	316.0					15																	22368839		2203	4300	6503	SO:0001819	synonymous_variant	0			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.264G>A	15.37:g.22368839G>A			B9EH16|Q6IEY2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E88	ENST00000332663.2	37	c.264	CCDS32172.1	15																																																																																			OR4M2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182974		0.443	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	HGNC	protein_coding	OTTHUMT00000414921.1		0.00	130	0	G			22368839	+1			no_errors	ENST00000332663	ensembl	human	putative	74_37	silent	10.00	90	10	SNP	0.023	A
OR4S1	256148	genome.wustl.edu	37	11	48328372	48328372	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:48328372A>C	ENST00000319988.1	+	1	598	c.598A>C	c.(598-600)Aac>Cac	p.N200H		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	200						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(4)|lung(12)|ovary(1)|skin(3)	21						CGTGGTGGCCAACAGCGGTAT	0.453																																																	0													182.0	145.0	157.0					11																	48328372		2201	4298	6499	SO:0001583	missense	0			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.598A>C	11.37:g.48328372A>C	ENSP00000321447:p.Asn200His		Q6IFB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N200H	ENST00000319988.1	37	c.598	CCDS31488.1	11	.	.	.	.	.	.	.	.	.	.	A	16.29	3.082701	0.55861	.	.	ENSG00000176555	ENST00000319988	T	0.00152	8.66	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	M	0.92555	3.32	0.38083	D	0.936734	D	0.89917	1.0	D	0.97110	1.0	T	0.61053	-0.7140	9	0.87932	D	0	.	11.4113	0.49927	1.0:0.0:0.0:0.0	.	200	Q8NGB4	OR4S1_HUMAN	H	200	ENSP00000321447:N200H	ENSP00000321447:N200H	N	+	1	0	OR4S1	48284948	0.000000	0.05858	1.000000	0.80357	0.368000	0.29767	0.432000	0.21461	2.020000	0.59435	0.533000	0.62120	AAC	OR4S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176555		0.453	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	HGNC	protein_coding	OTTHUMT00000390556.1		0.00	103	0	A	NM_001004725		48328372	+1			no_errors	ENST00000319988	ensembl	human	known	74_37	missense	23.85	82	26	SNP	1.000	C
OR9A4	130075	genome.wustl.edu	37	7	141619455	141619455	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:141619455G>A	ENST00000548136.1	+	1	839	c.780G>A	c.(778-780)gtG>gtA	p.V260V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTCTCTACGTGAAACCCAAGC	0.502																																																	0													67.0	71.0	70.0					7																	141619455		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.780G>A	7.37:g.141619455G>A			B9EGV6|Q6IFI4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V260	ENST00000548136.1	37	c.780	CCDS43661.1	7																																																																																			OR9A4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000258083		0.502	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A4	HGNC	protein_coding	OTTHUMT00000350806.3		0.00	25	0	G	NM_001001656		141619455	+1			no_errors	ENST00000548136	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.770	A
OTUD4	54726	genome.wustl.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																																	0													128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.T974I	ENST00000447906.2	37	c.2921		4	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT	OTUD4	-	NULL	ENSG00000164164		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2		0.00	55	0	G	NM_017493		146059006	-1			no_errors	ENST00000447906	ensembl	human	known	74_37	missense	5.36	52	3	SNP	0.392	A
OXA1L	5018	genome.wustl.edu	37	14	23239003	23239003	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:23239003C>T	ENST00000604262.1	+	4	466	c.443C>T	c.(442-444)aCa>aTa	p.T148I	OXA1L_ENST00000358043.5_Missense_Mutation_p.T132I|OXA1L_ENST00000412791.1_Missense_Mutation_p.T148I|OXA1L_ENST00000285848.5_Missense_Mutation_p.T208I			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	148					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		TTTCCAGGTACAGTCTTTGCC	0.468																																																	0													534.0	522.0	526.0					14																	23239003		2203	4300	6503	SO:0001583	missense	0				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.443C>T	14.37:g.23239003C>T	ENSP00000474623:p.Thr148Ile		B4DPA2	Missense_Mutation	SNP	pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C	p.T208I	ENST00000604262.1	37	c.623		14	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044216	0.93685	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.58210	0.35;0.53;0.38	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;0.991;1.0	D;D;D	0.97110	1.0;0.987;1.0	T	0.82396	-0.0478	10	0.87932	D	0	-17.099	19.2492	0.93917	0.0:1.0:0.0:0.0	.	148;148;208	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	I	208;17;148;132	ENSP00000285848:T208I;ENSP00000387601:T148I;ENSP00000350740:T132I	ENSP00000285848:T208I	T	+	2	0	OXA1L	22308843	1.000000	0.71417	0.982000	0.44146	0.955000	0.61496	6.343000	0.72986	2.840000	0.97914	0.655000	0.94253	ACA	OXA1L	-	pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C	ENSG00000155463		0.468	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	OXA1L	HGNC	protein_coding	OTTHUMT00000468876.1		0.00	39	0	C	NM_005015		23239003	+1			no_errors	ENST00000285848	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T
PAK1	5058	genome.wustl.edu	37	11	77054946	77054946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:77054946G>A	ENST00000356341.3	-	10	1447	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	PAK1_ENST00000528203.1_Nonsense_Mutation_p.Q208*|PAK1_ENST00000278568.4_Nonsense_Mutation_p.Q306*|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Nonsense_Mutation_p.Q306*	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TTCTTGGGCTGCTGCTGAAGA	0.428																																																	0													211.0	182.0	192.0					11																	77054946		2200	4292	6492	SO:0001587	stop_gained	0			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.916C>T	11.37:g.77054946G>A	ENSP00000348696:p.Gln306*		O75561|Q13567|Q32M53|Q32M54|Q86W79	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.Q306*	ENST00000356341.3	37	c.916	CCDS8250.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.905609|10.905609	0.99486|0.99486	.|.	.|.	ENSG00000149269|ENSG00000149269	ENST00000533285|ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.82176|.	0.4980|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82829|.	-0.0264|.	3|.	.|0.66056	.|D	.|0.02	.|.	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	27|306;306;306;208	.|.	.|ENSP00000278568:Q306X	A|Q	-|-	2|1	0|0	PAK1|PAK1	76732594|76732594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.444000|9.444000	0.97578|0.97578	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GCA|CAG	PAK1	-	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	ENSG00000149269		0.428	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	HGNC	protein_coding	OTTHUMT00000382083.2		0.00	53	0	G	NM_002576		77054946	-1			no_errors	ENST00000278568	ensembl	human	known	74_37	nonsense	51.52	16	17	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176734869	176734869	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:176734869G>C	ENST00000367662.3	+	15	5383	c.4219G>C	c.(4219-4221)Gtg>Ctg	p.V1407L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1407	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCTGATGTGGTGAACTGTAC	0.512																																																	0													188.0	183.0	184.0					1																	176734869		2086	4224	6310	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4219G>C	1.37:g.176734869G>C	ENSP00000356634:p.Val1407Leu		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.V1407L	ENST00000367662.3	37	c.4219	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938908	0.34189	.	.	ENSG00000116183	ENST00000367662	T	0.01599	4.74	5.69	5.69	0.88448	Sushi/SCR/CCP (1);	0.483859	0.21267	N	0.077399	T	0.01870	0.0059	L	0.37800	1.135	0.80722	D	1	B	0.17667	0.023	B	0.19148	0.024	T	0.57335	-0.7829	10	0.20046	T	0.44	-12.0609	8.3831	0.32483	0.0815:0.1569:0.7616:0.0	.	1407	Q9BXP8	PAPP2_HUMAN	L	1407	ENSP00000356634:V1407L	ENSP00000356634:V1407L	V	+	1	0	PAPPA2	175001492	0.999000	0.42202	0.997000	0.53966	0.860000	0.49131	2.594000	0.46189	2.691000	0.91804	0.655000	0.94253	GTG	PAPPA2	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP	ENSG00000116183		0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1		0.00	62	0	G			176734869	+1			no_errors	ENST00000367662	ensembl	human	known	74_37	missense	26.87	49	18	SNP	0.966	C
PCDH11X	27328	genome.wustl.edu	37	X	91642780	91642780	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chrX:91642780G>A	ENST00000373094.1	+	5	4036	c.3191G>A	c.(3190-3192)aGc>aAc	p.S1064N	PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1027N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1064N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1054N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1054N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1027N|PCDH11X_ENST00000504220.2_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1064					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCTCAGGAAAGCAGCAGTGAT	0.502																																					NSCLC(38;925 1092 2571 38200 45895)												0													77.0	65.0	69.0					X																	91642780		2201	4295	6496	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3191G>A	X.37:g.91642780G>A	ENSP00000362186:p.Ser1064Asn		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1064N	ENST00000373094.1	37	c.3191	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635620	0.67130	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.65732	-0.04;0.0;0.05;0.23;-0.17;0.05	3.56	3.56	0.40772	.	0.179252	0.32273	U	0.006335	T	0.73644	0.3613	M	0.67700	2.07	0.35953	D	0.834052	D;D;D;D;D	0.62365	0.991;0.991;0.991;0.991;0.985	P;P;P;P;P	0.61800	0.894;0.894;0.894;0.894;0.787	T	0.82474	-0.0439	10	0.87932	D	0	.	13.7192	0.62717	0.0:0.0:1.0:0.0	.	1027;1054;1064;1054;1064	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	N	1064;1054;1027;1054;1064;1064;1027	ENSP00000362186:S1064N;ENSP00000362189:S1054N;ENSP00000362180:S1027N;ENSP00000355105:S1054N;ENSP00000384758:S1064N;ENSP00000298274:S1027N	ENSP00000298274:S1027N	S	+	2	0	PCDH11X	91529436	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	5.727000	0.68523	1.376000	0.46267	0.502000	0.49764	AGC	PCDH11X	-	NULL	ENSG00000102290		0.502	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1		0.00	27	0	G	NM_032969		91642780	+1			no_errors	ENST00000373094	ensembl	human	known	74_37	missense	50.00	12	13	SNP	1.000	A
PDE8B	8622	genome.wustl.edu	37	5	76633130	76633130	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:76633130T>A	ENST00000264917.5	+	6	832	c.787T>A	c.(787-789)Ttc>Atc	p.F263I	PDE8B_ENST00000333194.4_Missense_Mutation_p.F263I|PDE8B_ENST00000342343.4_Missense_Mutation_p.F243I|PDE8B_ENST00000340978.3_Missense_Mutation_p.F263I|PDE8B_ENST00000346042.3_Missense_Mutation_p.F263I	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	263					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TCGCTCCCAGTTCAAATTACG	0.358																																																	0													57.0	56.0	56.0					5																	76633130		2203	4300	6503	SO:0001583	missense	0			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.787T>A	5.37:g.76633130T>A	ENSP00000264917:p.Phe263Ile		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.F263I	ENST00000264917.5	37	c.787	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475249	0.43942	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	T;T;T;T;T;T	0.77358	-0.52;-0.52;-0.57;-0.56;-0.47;-1.09	5.95	5.95	0.96441	.	0.046665	0.85682	D	0.000000	T	0.70675	0.3251	L	0.45228	1.405	0.80722	D	1	B;B;P;B;B	0.36789	0.365;0.165;0.57;0.081;0.103	B;B;B;B;B	0.36186	0.143;0.083;0.219;0.083;0.038	T	0.67983	-0.5529	10	0.19147	T	0.46	.	15.4063	0.74881	0.0:0.0:0.0:1.0	.	263;263;263;243;263	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	I	263;263;263;243;263;25	ENSP00000345446:F263I;ENSP00000330428:F263I;ENSP00000264917:F263I;ENSP00000345646:F243I;ENSP00000331336:F263I;ENSP00000422861:F25I	ENSP00000264917:F263I	F	+	1	0	PDE8B	76668886	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.367000	0.73099	2.279000	0.76181	0.533000	0.62120	TTC	PDE8B	-	NULL	ENSG00000113231		0.358	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3		0.00	40	0	T	NM_003719		76633130	+1			no_errors	ENST00000264917	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A
PCDHB2	56133	genome.wustl.edu	37	5	140476237	140476237	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:140476237G>A	ENST00000194155.4	+	1	2011	c.1863G>A	c.(1861-1863)gcG>gcA	p.A621A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGTGGGCGCACAATGGCG	0.692																																																	0													30.0	32.0	31.0					5																	140476237		2143	4178	6321	SO:0001819	synonymous_variant	0			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1863G>A	5.37:g.140476237G>A			Q4KMU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A621	ENST00000194155.4	37	c.1863	CCDS4244.1	5																																																																																			PCDHB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000112852		0.692	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2		0.00	101	0	G	NM_018936		140476237	+1			no_errors	ENST00000194155	ensembl	human	known	74_37	silent	54.78	52	63	SNP	1.000	A
PELI3	246330	genome.wustl.edu	37	11	66235713	66235713	+	Silent	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:66235713C>A	ENST00000320740.7	+	2	274	c.114C>A	c.(112-114)ggC>ggA	p.G38G	PELI3_ENST00000524466.1_Silent_p.G38G|MRPL11_ENST00000524576.1_5'Flank|PELI3_ENST00000349459.6_Silent_p.G38G|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	38					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CGCAGCCAGGCGAGGAGCCCA	0.612																																																	0													71.0	66.0	67.0					11																	66235713		2200	4295	6495	SO:0001819	synonymous_variant	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.114C>A	11.37:g.66235713C>A			Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	pfam_Pellino_fam	p.G38	ENST00000320740.7	37	c.114	CCDS31615.1	11																																																																																			PELI3	-	NULL	ENSG00000174516		0.612	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1		0.00	25	0	C	NM_145065		66235713	+1			no_errors	ENST00000320740	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.994	A
PHLPP1	23239	genome.wustl.edu	37	18	60639791	60639791	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr18:60639791G>A	ENST00000262719.5	+	15	3839	c.3605G>A	c.(3604-3606)cGc>cAc	p.R1202H	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R690H			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1202	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TGTGACAACCGCGAAGCCCTG	0.537																																																	0													103.0	108.0	107.0					18																	60639791		2045	4211	6256	SO:0001583	missense	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3605G>A	18.37:g.60639791G>A	ENSP00000262719:p.Arg1202His		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.R1202H	ENST00000262719.5	37	c.3605	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	31	5.076421	0.94000	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.09445	2.98;2.98	4.97	4.97	0.65823	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.28101	0.0693	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.00409	-1.1757	9	0.46703	T	0.11	-16.81	18.454	0.90713	0.0:0.0:1.0:0.0	.	1202	O60346	PHLP1_HUMAN	H	690;1202	ENSP00000383170:R690H;ENSP00000262719:R1202H	ENSP00000262719:R1202H	R	+	2	0	PHLPP1	58790771	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.542000	0.60677	2.586000	0.87340	0.650000	0.86243	CGC	PHLPP1	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000081913		0.537	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2		0.00	49	0	G	NM_194449		60639791	+1			no_errors	ENST00000262719	ensembl	human	known	74_37	missense	36.17	30	17	SNP	1.000	A
PJA2	9867	genome.wustl.edu	37	5	108714946	108714946	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:108714946G>C	ENST00000361189.2	-	4	481	c.242C>G	c.(241-243)cCt>cGt	p.P81R	PJA2_ENST00000361557.3_Missense_Mutation_p.P81R|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	81					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TTGATCCAAAGGACTGGAACC	0.303																																																	0													33.0	35.0	34.0					5																	108714946		2202	4300	6502	SO:0001583	missense	0			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.242C>G	5.37:g.108714946G>C	ENSP00000354775:p.Pro81Arg		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P81R	ENST00000361189.2	37	c.242	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866576	0.51588	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.11169	2.8;2.8	5.5	4.62	0.57501	.	0.239937	0.36665	N	0.002476	T	0.22513	0.0543	L	0.55481	1.735	0.29849	N	0.828556	D	0.56035	0.974	P	0.55667	0.781	T	0.03503	-1.1030	10	0.87932	D	0	-0.6635	13.9301	0.63989	0.0:0.0:0.8478:0.1522	.	81	O43164	PJA2_HUMAN	R	81	ENSP00000354775:P81R;ENSP00000355284:P81R	ENSP00000354775:P81R	P	-	2	0	PJA2	108742845	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	3.654000	0.54453	1.290000	0.44636	0.650000	0.86243	CCT	PJA2	-	NULL	ENSG00000198961		0.303	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1		0.00	28	0	G	NM_014819		108714946	-1			no_errors	ENST00000361189	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.998	C
PKHD1L1	93035	genome.wustl.edu	37	8	110396356	110396356	+	Splice_Site	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr8:110396356G>T	ENST00000378402.5	+	5	579	c.475G>T	c.(475-477)Ggt>Tgt	p.G159C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	159	IPT/TIG 2.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGAACTCCAGGTCTGTTATA	0.274										HNSCC(38;0.096)																																							0													134.0	132.0	132.0					8																	110396356		1814	4070	5884	SO:0001630	splice_region_variant	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.475+1G>T	8.37:g.110396356G>T			Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.G159C	ENST00000378402.5	37	c.475	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536339	0.85812	.	.	ENSG00000205038	ENST00000378402	D	0.86769	-2.17	5.95	5.95	0.96441	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93706	0.7989	M	0.81802	2.56	0.52099	D	0.999943	D	0.89917	1.0	D	0.72982	0.979	D	0.93909	0.7195	10	0.87932	D	0	.	17.875	0.88822	0.0:0.0:1.0:0.0	.	159	Q86WI1	PKHL1_HUMAN	C	159	ENSP00000367655:G159C	ENSP00000367655:G159C	G	+	1	0	PKHD1L1	110465532	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.368000	0.66133	2.821000	0.97095	0.650000	0.86243	GGT	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.274	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0.00	43	0	G	NM_177531	Missense_Mutation	110396356	+1			no_errors	ENST00000378402	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
PLXNA1	5361	genome.wustl.edu	37	3	126708351	126708351	+	Silent	SNP	G	G	T	rs139482007		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:126708351G>T	ENST00000393409.2	+	1	915	c.915G>T	c.(913-915)gcG>gcT	p.A305A	PLXNA1_ENST00000251772.4_Silent_p.A282A	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	305	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGAGCAGGCGGGTGTGGAGT	0.652																																																	0													128.0	135.0	132.0					3																	126708351		2202	4300	6502	SO:0001819	synonymous_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.915G>T	3.37:g.126708351G>T				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A305	ENST00000393409.2	37	c.915	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000114554		0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1		0.00	31	0	G	NM_032242		126708351	+1			no_errors	ENST00000393409	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.140	T
PLXNB1	5364	genome.wustl.edu	37	3	48465887	48465887	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:48465887C>T	ENST00000358536.4	-	3	403	c.134G>A	c.(133-135)gGc>gAc	p.G45D	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G45D|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G45D|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G45D	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	45	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTAGAGGGTGCCTGAGGTGGG	0.647																																																	0													31.0	23.0	25.0					3																	48465887		2203	4300	6503	SO:0001583	missense	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.134G>A	3.37:g.48465887C>T	ENSP00000351338:p.Gly45Asp		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G45D	ENST00000358536.4	37	c.134	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252936	0.80135	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	4.04	4.04	0.47022	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.070429	0.56097	D	0.000034	T	0.31167	0.0788	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.37220	-0.9715	10	0.56958	D	0.05	.	15.5616	0.76253	0.0:1.0:0.0:0.0	.	45;45	O43157;O43157-2	PLXB1_HUMAN;.	D	45	ENSP00000296440:G45D;ENSP00000351242:G45D;ENSP00000351338:G45D;ENSP00000414199:G45D	ENSP00000296440:G45D	G	-	2	0	PLXNB1	48440891	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.749000	0.85096	1.960000	0.56953	0.655000	0.94253	GGC	PLXNB1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000164050		0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1		0.00	63	0	C	NM_002673		48465887	-1			no_errors	ENST00000296440	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
PLXNA1	5361	genome.wustl.edu	37	3	126737237	126737237	+	Missense_Mutation	SNP	G	G	A	rs539016754		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:126737237G>A	ENST00000393409.2	+	19	3761	c.3761G>A	c.(3760-3762)gGt>gAt	p.G1254D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G1231D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1254					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGAGGCGGGGGTCTCCTGCTG	0.632																																																	0													56.0	46.0	49.0					3																	126737237		2203	4300	6503	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3761G>A	3.37:g.126737237G>A	ENSP00000377061:p.Gly1254Asp			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G1254D	ENST00000393409.2	37	c.3761	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251524	0.59212	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10192	2.9;2.9	4.71	4.71	0.59529	.	0.193257	0.34906	N	0.003583	T	0.25975	0.0633	M	0.71581	2.175	0.80722	D	1	P	0.42375	0.778	P	0.51866	0.682	T	0.01096	-1.1453	10	0.44086	T	0.13	.	16.6262	0.84971	0.0:0.0:1.0:0.0	.	1254	Q9UIW2	PLXA1_HUMAN	D	1254;1231	ENSP00000377061:G1254D;ENSP00000251772:G1231D	ENSP00000251772:G1231D	G	+	2	0	PLXNA1	128219927	1.000000	0.71417	0.544000	0.28141	0.007000	0.05969	9.811000	0.99226	2.158000	0.67659	0.467000	0.42956	GGT	PLXNA1	-	NULL	ENSG00000114554		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1		0.00	53	0	G	NM_032242		126737237	+1			no_errors	ENST00000393409	ensembl	human	known	74_37	missense	19.57	73	18	SNP	1.000	A
PMFBP1	83449	genome.wustl.edu	37	16	72159999	72159999	+	Silent	SNP	C	C	T	rs368797957		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:72159999C>T	ENST00000237353.10	-	15	2382	c.2121G>A	c.(2119-2121)ctG>ctA	p.L707L	PMFBP1_ENST00000355636.6_Silent_p.L562L|PMFBP1_ENST00000537792.1_5'Flank|PMFBP1_ENST00000537465.1_Silent_p.L712L	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	712						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCTGGGCCTGCAGGCTCATTA	0.522																																																	0								C	,	0,4396		0,0,2198	171.0	166.0	168.0		1686,2121	1.7	0.2	16		168	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PMFBP1	NM_001160213.1,NM_031293.2	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	562/883,707/1008	72159999	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2121G>A	16.37:g.72159999C>T			B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	NULL	p.L712	ENST00000237353.10	37	c.2136	CCDS32483.1	16																																																																																			PMFBP1	-	NULL	ENSG00000118557		0.522	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2		0.00	64	0	C	NM_031293		72159999	-1			no_errors	ENST00000537465	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.295	T
PODXL2	50512	genome.wustl.edu	37	3	127390276	127390276	+	Splice_Site	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:127390276G>C	ENST00000342480.6	+	7	1464		c.e7-1		ABTB1_ENST00000232744.8_5'Flank|ABTB1_ENST00000468137.1_5'Flank|ABTB1_ENST00000453791.2_5'Flank|ABTB1_ENST00000393363.3_5'Flank	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2						leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCCACCCCTAGATTGGCATCC	0.647																																																	0													49.0	49.0	49.0					3																	127390276		2203	4300	6503	SO:0001630	splice_region_variant	0			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1426-1G>C	3.37:g.127390276G>C			Q6UVY4|Q8WUV6	Splice_Site	SNP	-	e7-1	ENST00000342480.6	37	c.1426-1	CCDS3044.1	3	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636754	0.47049	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3425	0.83092	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PODXL2	128872966	1.000000	0.71417	0.979000	0.43373	0.334000	0.28698	8.745000	0.91600	1.838000	0.53458	0.289000	0.19496	.	PODXL2	-	-	ENSG00000114631		0.647	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1		0.00	46	0	G	NM_015720	Intron	127390276	+1			no_errors	ENST00000342480	ensembl	human	known	74_37	splice_site	34.25	48	25	SNP	1.000	C
POGZ	23126	genome.wustl.edu	37	1	151400365	151400365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:151400365delC	ENST00000271715.2	-	7	1326	c.1012delG	c.(1012-1014)gtgfs	p.V339fs	POGZ_ENST00000531094.1_Frame_Shift_Del_p.V277fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.V286fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.V244fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.V330fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.V286fs|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000491586.1_Frame_Shift_Del_p.V286fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	339					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGGACACCACCACTGGCCCA	0.512																																																	0													74.0	63.0	67.0					1																	151400365		2203	4300	6503	SO:0001589	frameshift_variant	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1012delG	1.37:g.151400365delC	ENSP00000271715:p.Val339fs		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Frame_Shift_Del	DEL	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.V338fs	ENST00000271715.2	37	c.1012	CCDS997.1	1																																																																																			POGZ	-	NULL	ENSG00000143442		0.512	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2		0.00	40	0	C	NM_207171		151400365	-1			no_errors	ENST00000271715	ensembl	human	known	74_37	frame_shift_del	64.29	10	18	DEL	1.000	0
POLR3G	10622	genome.wustl.edu	37	5	89781458	89781458	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:89781458A>G	ENST00000399107.1	+	2	274	c.74A>G	c.(73-75)gAa>gGa	p.E25G	POLR3G_ENST00000504930.1_Missense_Mutation_p.E25G|POLR3G_ENST00000514483.1_Missense_Mutation_p.E25G	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	25					cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		AGCAAAGGTGAAAAGTTACCT	0.383																																																	0													119.0	106.0	110.0					5																	89781458		1856	4094	5950	SO:0001583	missense	0			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"""RNA polymerase subunits"""	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.74A>G	5.37:g.89781458A>G	ENSP00000382058:p.Glu25Gly		A8MTH0	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc31	p.E25G	ENST00000399107.1	37	c.74	CCDS43337.1	5	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252859	0.80135	.	.	ENSG00000113356	ENST00000512239;ENST00000505345;ENST00000503373;ENST00000503973;ENST00000399107;ENST00000504930;ENST00000514483	.	.	.	5.41	5.41	0.78517	.	0.378246	0.34291	N	0.004099	T	0.74680	0.3748	M	0.84683	2.71	0.34785	D	0.735135	D	0.61080	0.989	P	0.62298	0.9	D	0.84507	0.0620	9	0.72032	D	0.01	-33.3618	11.2786	0.49181	0.8476:0.1524:0.0:0.0	.	25	O15318	RPC7_HUMAN	G	25	.	ENSP00000382058:E25G	E	+	2	0	POLR3G	89817214	1.000000	0.71417	0.985000	0.45067	0.878000	0.50629	4.449000	0.60034	2.178000	0.69098	0.460000	0.39030	GAA	POLR3G	-	pfam_RNA_pol_III_Rpc31	ENSG00000113356		0.383	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3G	HGNC	protein_coding	OTTHUMT00000370462.1		0.00	76	0	A	NM_006467		89781458	+1			no_errors	ENST00000399107	ensembl	human	known	74_37	missense	30.43	48	21	SNP	0.999	G
PPP1R9A	55607	genome.wustl.edu	37	7	94750088	94750088	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:94750088G>T	ENST00000433881.1	+	4	2125	c.1593G>T	c.(1591-1593)aaG>aaT	p.K531N	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.K531N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K531N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K531N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K531N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K531N			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	531	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GACTTGAAAAGCTGGGAATAT	0.398										HNSCC(28;0.073)																																							0													157.0	153.0	154.0					7																	94750088		2203	4300	6503	SO:0001583	missense	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1593G>T	7.37:g.94750088G>T	ENSP00000398870:p.Lys531Asn		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.K531N	ENST00000433881.1	37	c.1593	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498859	0.64298	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	4.46	1.52	0.23074	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.28054	0.825	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.998;0.999;0.999;0.999	T	0.24548	-1.0157	10	0.87932	D	0	.	7.6551	0.28371	0.4772:0.0:0.5228:0.0	.	531;531;531;531;531	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	N	531	ENSP00000405514:K531N;ENSP00000344524:K531N;ENSP00000411342:K531N;ENSP00000398870:K531N;ENSP00000289495:K531N;ENSP00000402893:K531N	ENSP00000289495:K531N	K	+	3	2	PPP1R9A	94588024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.594000	0.36697	0.330000	0.23485	0.655000	0.94253	AAG	PPP1R9A	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000158528		0.398	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1		0.00	53	0	G	NM_001166160		94750088	+1			no_errors	ENST00000289495	ensembl	human	known	74_37	missense	5.95	78	5	SNP	1.000	T
PPP2R1B	5519	genome.wustl.edu	37	11	111635631	111635631	+	Splice_Site	SNP	T	T	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:111635631T>A	ENST00000527614.1	-	3	271		c.e3-2		PPP2R1B_ENST00000427203.2_Splice_Site|PPP2R1B_ENST00000393055.2_Splice_Site|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000311129.5_Splice_Site|PPP2R1B_ENST00000341980.6_Splice_Site	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta						apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AAATTGTATCTGGAAGTGACA	0.473																																																	0													76.0	67.0	70.0					11																	111635631		2201	4297	6498	SO:0001630	splice_region_variant	0			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.206-2A>T	11.37:g.111635631T>A			A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Splice_Site	SNP	-	e3-2	ENST00000527614.1	37	c.206-2	CCDS8349.1	11	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161451	0.78226	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000527614;ENST00000341980;ENST00000393055;ENST00000531373	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4474	0.61148	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPP2R1B	111140841	1.000000	0.71417	0.988000	0.46212	0.862000	0.49288	7.481000	0.81124	2.115000	0.64714	0.533000	0.62120	.	PPP2R1B	-	-	ENSG00000137713		0.473	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	HGNC	protein_coding	OTTHUMT00000391298.1		0.00	9	0	T	NM_002716	Intron	111635631	-1			no_errors	ENST00000311129	ensembl	human	known	74_37	splice_site	45.45	6	5	SNP	0.997	A
PRDM9	56979	genome.wustl.edu	37	5	23527075	23527075	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:23527075C>G	ENST00000296682.3	+	11	2060	c.1878C>G	c.(1876-1878)caC>caG	p.H626Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	626					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCACTCACCAGAGGAGAC	0.612										HNSCC(3;0.000094)																																							0													13.0	14.0	14.0					5																	23527075		1547	3418	4965	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1878C>G	5.37:g.23527075C>G	ENSP00000296682:p.His626Gln		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.H626Q	ENST00000296682.3	37	c.1878	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	C	9.045	0.990691	0.18966	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	D	0.86865	-2.18	2.02	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38548	N	0.001651	D	0.94095	0.8107	H	0.96111	3.77	0.27943	N	0.93745	D	0.89917	1.0	D	0.97110	1.0	D	0.86789	0.1984	10	0.87932	D	0	-9.227	6.7229	0.23340	0.0:0.8369:0.0:0.1631	.	626	Q9NQV7	PRDM9_HUMAN	Q	626;392	ENSP00000296682:H626Q	ENSP00000253473:H392Q	H	+	3	2	PRDM9	23562832	0.244000	0.23889	0.937000	0.37676	0.008000	0.06430	0.664000	0.25068	0.399000	0.25367	-0.266000	0.10368	CAC	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.612	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1		0.00	75	0	C	NM_020227		23527075	+1			no_errors	ENST00000296682	ensembl	human	known	74_37	missense	45.76	32	27	SNP	1.000	G
PRSS12	8492	genome.wustl.edu	37	4	119220048	119220048	+	Silent	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:119220048T>C	ENST00000296498.3	-	9	1959	c.1677A>G	c.(1675-1677)aaA>aaG	p.K559K	PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	559	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.K559K(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGATGGGTCCTTTTCCTTCTC	0.448																																																	1	Substitution - coding silent(1)	lung(1)											133.0	121.0	125.0					4																	119220048		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1677A>G	4.37:g.119220048T>C			Q9UP16	Silent	SNP	pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A	p.K559	ENST00000296498.3	37	c.1677	CCDS3709.1	4																																																																																			PRSS12	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000164099		0.448	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2		0.00	55	0	T			119220048	-1			no_errors	ENST00000296498	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.988	C
PTCHD3	374308	genome.wustl.edu	37	10	27702261	27702261	+	Missense_Mutation	SNP	C	C	G	rs148676840|rs551131667	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:27702261C>G	ENST00000438700.3	-	1	1036	c.919G>C	c.(919-921)Ggg>Cgg	p.G307R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	307					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGCTGCCCCCCAAGATGTAT	0.592																																																	0													65.0	67.0	67.0					10																	27702261		2203	4300	6503	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.919G>C	10.37:g.27702261C>G	ENSP00000417658:p.Gly307Arg		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.G307R	ENST00000438700.3	37	c.919	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962581	0.53400	.	.	ENSG00000182077	ENST00000438700	D	0.85339	-1.97	3.86	2.95	0.34219	.	1.236440	0.05785	N	0.609346	D	0.90700	0.7082	M	0.71581	2.175	0.09310	N	0.999997	D	0.55385	0.971	P	0.59595	0.86	T	0.76857	-0.2804	10	0.42905	T	0.14	-5.978	11.764	0.51920	0.0:0.9122:0.0:0.0878	.	307	Q3KNS1	PTHD3_HUMAN	R	307	ENSP00000417658:G307R	ENSP00000417658:G307R	G	-	1	0	PTCHD3	27742267	0.014000	0.17966	0.004000	0.12327	0.002000	0.02628	1.799000	0.38824	0.962000	0.38057	0.561000	0.74099	GGG	PTCHD3	-	pfam_Patched	ENSG00000182077		0.592	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3		0.00	33	0	C	XM_370541		27702261	-1			no_errors	ENST00000438700	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.021	G
PTGIS	5740	genome.wustl.edu	37	20	48127675	48127675	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr20:48127675C>A	ENST00000244043.4	-	9	1277	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	416					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	AGTCTTTCTTCTCTGATCCGT	0.483																																																	0													71.0	63.0	66.0					20																	48127675		2203	4300	6503	SO:0001583	missense	0				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1248G>T	20.37:g.48127675C>A	ENSP00000244043:p.Glu416Asp		Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.E416D	ENST00000244043.4	37	c.1248	CCDS13419.1	20	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082692	0.76528	.	.	ENSG00000124212	ENST00000244043	T	0.64438	-0.1	5.26	4.31	0.51392	.	0.245991	0.38217	N	0.001762	T	0.62392	0.2424	L	0.48642	1.525	0.52099	D	0.99994	D	0.56521	0.976	P	0.53360	0.724	T	0.59830	-0.7380	10	0.34782	T	0.22	-15.8265	9.1836	0.37156	0.0:0.8207:0.0:0.1793	.	416	Q16647	PTGIS_HUMAN	D	416	ENSP00000244043:E416D	ENSP00000244043:E416D	E	-	3	2	PTGIS	47561082	0.998000	0.40836	0.999000	0.59377	0.997000	0.91878	0.677000	0.25262	1.188000	0.43014	0.561000	0.74099	GAG	PTGIS	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000124212		0.483	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIS	HGNC	protein_coding	OTTHUMT00000080496.2		0.00	28	0	C			48127675	-1			no_errors	ENST00000244043	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A
PTH2R	5746	genome.wustl.edu	37	2	209345817	209345817	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:209345817A>G	ENST00000272847.2	+	10	1217	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	335					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CTGTTTCTGAATACGGTTAGA	0.338																																																	0													91.0	91.0	91.0					2																	209345817		2203	4300	6503	SO:0001583	missense	0			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1004A>G	2.37:g.209345817A>G	ENSP00000272847:p.Asn335Ser		Q8N429	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.N335S	ENST00000272847.2	37	c.1004	CCDS2383.1	2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489809	0.84962	.	.	ENSG00000144407	ENST00000272847	T	0.34859	1.34	5.69	5.69	0.88448	GPCR, family 2-like (1);	0.000000	0.50627	D	0.000106	T	0.59932	0.2230	M	0.75615	2.305	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61247	-0.7101	9	.	.	.	.	14.189	0.65625	1.0:0.0:0.0:0.0	.	224;335	B4DFN8;P49190	.;PTH2R_HUMAN	S	335	ENSP00000272847:N335S	.	N	+	2	0	PTH2R	209054062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.852000	0.92215	2.293000	0.77203	0.528000	0.53228	AAT	PTH2R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000144407		0.338	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	HGNC	protein_coding	OTTHUMT00000256519.2		0.00	84	0	A	NM_005048		209345817	+1			no_errors	ENST00000272847	ensembl	human	known	74_37	missense	15.31	83	15	SNP	1.000	G
PTPN1	5770	genome.wustl.edu	37	20	49195772	49195772	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr20:49195772G>A	ENST00000371621.3	+	7	944	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	PTPN1_ENST00000541713.1_Missense_Mutation_p.R184Q|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	257	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	AGGAAGTTTCGGATGGGGCTG	0.512																																																	0													141.0	144.0	143.0					20																	49195772		2203	4300	6503	SO:0001583	missense	0				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.770G>A	20.37:g.49195772G>A	ENSP00000360683:p.Arg257Gln		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R257Q	ENST00000371621.3	37	c.770	CCDS13430.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.310678	0.95629	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	D;D	0.93366	-3.21;-3.21	5.64	4.7	0.59300	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000008	D	0.97810	0.9281	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98874	1.0767	10	0.87932	D	0	.	14.5221	0.67856	0.0704:0.0:0.9296:0.0	.	257	P18031	PTN1_HUMAN	Q	257;184	ENSP00000360683:R257Q;ENSP00000437732:R184Q	ENSP00000360683:R257Q	R	+	2	0	PTPN1	48629179	1.000000	0.71417	0.943000	0.38184	0.983000	0.72400	9.869000	0.99810	1.382000	0.46385	0.563000	0.77884	CGG	PTPN1	-	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000196396		0.512	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2		0.00	48	0	G			49195772	+1			no_errors	ENST00000371621	ensembl	human	known	74_37	missense	50.75	33	34	SNP	0.999	A
PTPRM	5797	genome.wustl.edu	37	18	7774252	7774252	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr18:7774252A>T	ENST00000332175.8	+	2	1216	c.179A>T	c.(178-180)gAt>gTt	p.D60V	PTPRM_ENST00000400053.4_5'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.D60V|PTPRM_ENST00000580170.1_Missense_Mutation_p.D60V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	60	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCGACTTCTGATCCATGGATG	0.388																																																	0													197.0	174.0	182.0					18																	7774252		2203	4300	6503	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.179A>T	18.37:g.7774252A>T	ENSP00000331418:p.Asp60Val		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D60V	ENST00000332175.8	37	c.179	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846633	0.51164	.	.	ENSG00000173482	ENST00000332175;ENST00000400060	T;T	0.03580	3.88;3.88	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.192649	0.41194	D	0.000929	T	0.20495	0.0493	M	0.85041	2.73	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.993	T	0.00615	-1.1643	10	0.44086	T	0.13	.	15.0877	0.72167	1.0:0.0:0.0:0.0	.	60;60	A7MBN1;P28827	.;PTPRM_HUMAN	V	60	ENSP00000331418:D60V;ENSP00000382933:D60V	ENSP00000331418:D60V	D	+	2	0	PTPRM	7764252	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.245000	0.65405	2.255000	0.74692	0.533000	0.62120	GAT	PTPRM	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000173482		0.388	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1		0.00	65	0	A			7774252	+1			no_errors	ENST00000400060	ensembl	human	known	74_37	missense	28.21	56	22	SNP	1.000	T
RANGAP1	5905	genome.wustl.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000356244.3_Silent_p.E390E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											233.0	159.0	184.0					22																	41650402		2203	4300	6503	SO:0001819	synonymous_variant	0			X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>A	22.37:g.41650402C>T			Q96JJ2	Silent	SNP	pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E390	ENST00000455915.2	37	c.1170	CCDS14012.1	22																																																																																			RANGAP1	-	NULL	ENSG00000100401		0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RANGAP1	HGNC	protein_coding	OTTHUMT00000320606.1		0.00	33	0	C	NM_002883		41650402	-1			no_errors	ENST00000356244	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.781	T
RBM6	10180	genome.wustl.edu	37	3	50098935	50098935	+	Silent	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:50098935C>T	ENST00000266022.4	+	14	2653	c.2394C>T	c.(2392-2394)taC>taT	p.Y798Y	RBM6_ENST00000539992.1_Silent_p.Y140Y|RBM6_ENST00000442092.1_Silent_p.Y276Y|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.Y276Y|RBM6_ENST00000443081.1_Silent_p.Y666Y	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	798					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CTACTGGCTACTATTATGACC	0.388																																																	0													164.0	159.0	161.0					3																	50098935		2203	4300	6503	SO:0001819	synonymous_variant	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2394C>T	3.37:g.50098935C>T			O60549|O75524|Q86SS3	Silent	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.Y798	ENST00000266022.4	37	c.2394	CCDS2809.1	3																																																																																			RBM6	-	NULL	ENSG00000004534		0.388	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4		0.00	116	0	C	NM_005777		50098935	+1			no_errors	ENST00000266022	ensembl	human	known	74_37	silent	36.96	58	34	SNP	1.000	T
RNF213	57674	genome.wustl.edu	37	17	78319437	78319437	+	Silent	SNP	C	C	T	rs140757899	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:78319437C>T	ENST00000582970.1	+	29	7445	c.7302C>T	c.(7300-7302)agC>agT	p.S2434S	RNF213_ENST00000336301.6_Silent_p.S507S|RNF213_ENST00000508628.2_Silent_p.S2483S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2434					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AATTCCTTAGCGACCTGCGGC	0.517													C|||	4	0.000798722	0.0	0.0	5008	,	,		20480	0.0		0.0	False		,,,				2504	0.0041																0								C		1,4405	2.1+/-5.4	0,1,2202	85.0	83.0	83.0		7449	-8.1	0.3	17	dbSNP_134	83	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	RNF213	NM_020914.4		0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461		2483/5257	78319437	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7302C>T	17.37:g.78319437C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S2434	ENST00000582970.1	37	c.7302	CCDS58606.1	17																																																																																			RNF213	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000173821		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0.00	59	0	C	NM_020914		78319437	+1			no_errors	ENST00000582970	ensembl	human	known	74_37	silent	49.25	34	33	SNP	0.191	T
SBSN	374897	genome.wustl.edu	37	19	36018326	36018326	+	Silent	SNP	A	A	G	rs77512068	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:36018326A>G	ENST00000452271.2	-	1	886	c.858T>C	c.(856-858)gcT>gcC	p.A286A	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	286	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAACCTGACCAGCAGTATGGT	0.632													a|||	11	0.00219649	0.0038	0.0043	5008	,	,		21785	0.002		0.001	False		,,,				2504	0.0																0													65.0	69.0	68.0					19																	36018326		692	1591	2283	SO:0001819	synonymous_variant	0			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.858T>C	19.37:g.36018326A>G			A8K5J0|E9PBV3	Silent	SNP	NULL	p.A286	ENST00000452271.2	37	c.858	CCDS54253.1	19																																																																																			SBSN	-	NULL	ENSG00000189001		0.632	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3		0.00	134	0	A	NM_198538		36018326	-1			no_errors	ENST00000452271	ensembl	human	novel	74_37	silent	5.08	111	6	SNP	0.000	G
SEC61A1	29927	genome.wustl.edu	37	3	127775657	127775657	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:127775657G>T	ENST00000243253.3	+	5	510	c.326G>T	c.(325-327)cGa>cTa	p.R109L	SEC61A1_ENST00000464451.1_Missense_Mutation_p.R115L|SEC61A1_ENST00000424880.2_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	109					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CCAAAAGACCGAGCTCTCTTC	0.408																																																	0													69.0	69.0	69.0					3																	127775657		2203	4300	6503	SO:0001583	missense	0			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.326G>T	3.37:g.127775657G>T	ENSP00000243253:p.Arg109Leu		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.R109L	ENST00000243253.3	37	c.326	CCDS3046.1	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697278	0.88830	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000481210	.	.	.	5.79	4.92	0.64577	SecY subunit domain (2);	0.051384	0.85682	D	0.000000	D	0.85687	0.5754	H	0.95850	3.73	0.80722	D	1	P	0.43750	0.816	P	0.57204	0.815	D	0.89689	0.3896	9	0.87932	D	0	.	14.8136	0.70013	0.0687:0.0:0.9313:0.0	.	109	P61619	S61A1_HUMAN	L	115;109;56	.	ENSP00000243253:R109L	R	+	2	0	SEC61A1	129258347	1.000000	0.71417	0.994000	0.49952	0.593000	0.36681	9.869000	0.99810	1.455000	0.47813	0.650000	0.86243	CGA	SEC61A1	-	pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	ENSG00000058262		0.408	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A1	HGNC	protein_coding	OTTHUMT00000356541.2		0.00	85	0	G	NM_013336		127775657	+1			no_errors	ENST00000243253	ensembl	human	known	74_37	missense	48.31	61	57	SNP	1.000	T
SERINC1	57515	genome.wustl.edu	37	6	122792867	122792867	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:122792867C>G	ENST00000339697.4	-	1	100	c.16G>C	c.(16-18)Ggg>Cgg	p.G6R	PKIB_ENST00000392491.2_5'Flank	NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	6					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGCACAGCCCCAGGACGCTC	0.562																																																	0													121.0	116.0	118.0					6																	122792867		2203	4300	6503	SO:0001583	missense	0			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.16G>C	6.37:g.122792867C>G	ENSP00000342962:p.Gly6Arg		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	pfam_TMS_TDE	p.G6R	ENST00000339697.4	37	c.16	CCDS5125.1	6	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561834	0.86335	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.15952	2.38;2.38	5.37	5.37	0.77165	.	0.333028	0.34603	N	0.003840	T	0.30417	0.0764	M	0.66378	2.025	0.58432	D	0.999999	D	0.64830	0.994	D	0.67103	0.949	T	0.01062	-1.1464	10	0.72032	D	0.01	-1.8684	14.48	0.67576	0.0:1.0:0.0:0.0	.	6	Q9NRX5	SERC1_HUMAN	R	6	ENSP00000342962:G6R;ENSP00000357439:G6R	ENSP00000342962:G6R	G	-	1	0	SERINC1	122834566	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.681000	0.54648	2.786000	0.95864	0.561000	0.74099	GGG	SERINC1	-	NULL	ENSG00000111897		0.562	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC1	HGNC	protein_coding	OTTHUMT00000042031.2		0.00	23	0	C	NM_020755		122792867	-1			no_errors	ENST00000339697	ensembl	human	known	74_37	missense	60.00	8	12	SNP	1.000	G
SLC22A9	114571	genome.wustl.edu	37	11	63176300	63176300	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:63176300C>T	ENST00000279178.3	+	9	1799	c.1550C>T	c.(1549-1551)cCt>cTt	p.P517L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	517					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTCCTCCTTCCTGAAACCAGG	0.502																																																	0													106.0	100.0	102.0					11																	63176300		2201	4298	6499	SO:0001583	missense	0			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1550C>T	11.37:g.63176300C>T	ENSP00000279178:p.Pro517Leu		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P517L	ENST00000279178.3	37	c.1550	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059335	0.55325	.	.	ENSG00000149742	ENST00000279178	T	0.61274	0.12	2.63	2.63	0.31362	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85943	0.1459	10	0.72032	D	0.01	.	10.974	0.47454	0.0:1.0:0.0:0.0	.	517	Q8IVM8	S22A9_HUMAN	L	517	ENSP00000279178:P517L	ENSP00000279178:P517L	P	+	2	0	SLC22A9	62932876	0.997000	0.39634	0.991000	0.47740	0.770000	0.43624	3.928000	0.56506	1.492000	0.48499	0.205000	0.17691	CCT	SLC22A9	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000149742		0.502	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1		0.00	61	0	C	NM_080866		63176300	+1			no_errors	ENST00000279178	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	T
SLC26A3	1811	genome.wustl.edu	37	7	107414599	107414599	+	Splice_Site	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:107414599C>A	ENST00000340010.5	-	17	1958		c.e17-1		SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3						anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TAAATCCTTTCTGCAGGAGAG	0.408																																																	0													162.0	153.0	156.0					7																	107414599		2203	4300	6503	SO:0001630	splice_region_variant	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1774-1G>T	7.37:g.107414599C>A				Splice_Site	SNP	-	e16-1	ENST00000340010.5	37	c.1774-1	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875758	0.51695	.	.	ENSG00000091138	ENST00000340010	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC26A3	107201835	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	6.596000	0.74113	2.937000	0.99478	0.650000	0.86243	.	SLC26A3	-	-	ENSG00000091138		0.408	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1		0.00	16	0	C	NM_000111	Intron	107414599	-1			no_errors	ENST00000340010	ensembl	human	known	74_37	splice_site	6.90	27	2	SNP	1.000	A
SLC27A3	11000	genome.wustl.edu	37	1	153749682	153749682	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:153749682G>A	ENST00000368661.3	+	3	1228	c.1163G>A	c.(1162-1164)gGc>gAc	p.G388D	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.G469D	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	388					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCATCGTGGGCTGCATGGGC	0.532																																																	0													166.0	133.0	144.0					1																	153749682		2203	4300	6503	SO:0001583	missense	0			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1163G>A	1.37:g.153749682G>A	ENSP00000357650:p.Gly388Asp		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G388D	ENST00000368661.3	37	c.1163	CCDS1053.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.213530|4.213530	0.79352|0.79352	.|.	.|.	ENSG00000143554|ENSG00000143554	ENST00000458027|ENST00000271857;ENST00000368661	.|T;T	.|0.47177	.|0.85;0.85	4.92|4.92	4.92|4.92	0.64577|0.64577	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68366|0.68366	0.2993|0.2993	M|M	0.90650|0.90650	3.135|3.135	0.54753|0.54753	D|D	0.999989|0.999989	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.74719|0.74719	-0.3570|-0.3570	5|10	.|0.72032	.|D	.|0.01	-22.5639|-22.5639	13.4767|13.4767	0.61312|0.61312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|388	.|Q5K4L6	.|S27A3_HUMAN	T|D	93|469;388	.|ENSP00000271857:G469D;ENSP00000357650:G388D	.|ENSP00000271857:G469D	A|G	+|+	1|2	0|0	SLC27A3|SLC27A3	152016306|152016306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.657000|0.657000	0.38888|0.38888	7.282000|7.282000	0.78630|0.78630	2.581000|2.581000	0.87130|0.87130	0.491000|0.491000	0.48974|0.48974	GCT|GGC	SLC27A3	-	pfam_AMP-dep_Synth/Lig	ENSG00000143554		0.532	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	HGNC	protein_coding			0.00	31	0	G	NM_024330		153749682	+1			no_errors	ENST00000368661	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A
SLC36A3	285641	genome.wustl.edu	37	5	150656993	150656993	+	Silent	SNP	G	G	T	rs551325908		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:150656993G>T	ENST00000335230.3	-	10	1785	c.1374C>A	c.(1372-1374)atC>atA	p.I458I	SLC36A3_ENST00000377713.3_Silent_p.I499I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	458						integral component of membrane (GO:0016021)		p.I458I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAATGGCTGATGGGTTGGG	0.478																																																	2	Substitution - coding silent(2)	lung(2)											134.0	130.0	131.0					5																	150656993		2203	4300	6503	SO:0001819	synonymous_variant	0			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1374C>A	5.37:g.150656993G>T			Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	pfam_AA_transpt_TM	p.I499	ENST00000335230.3	37	c.1497	CCDS4314.1	5																																																																																			SLC36A3	-	NULL	ENSG00000186334		0.478	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1		0.00	53	0	G	NM_181774		150656993	-1			no_errors	ENST00000377713	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.000	T
SLC6A20	54716	genome.wustl.edu	37	3	45817259	45817259	+	Silent	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:45817259A>G	ENST00000358525.4	-	4	691	c.576T>C	c.(574-576)acT>acC	p.T192T	SLC6A20_ENST00000456124.2_Silent_p.T192T|SLC6A20_ENST00000353278.4_Silent_p.T192T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	192					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCACCTTGCCAGTGGACTCGG	0.667																																																	0													62.0	58.0	59.0					3																	45817259		2203	4300	6503	SO:0001819	synonymous_variant	0			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.576T>C	3.37:g.45817259A>G			A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.T192	ENST00000358525.4	37	c.576	CCDS43077.1	3																																																																																			SLC6A20	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000163817		0.667	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	HGNC	protein_coding	OTTHUMT00000257318.3		0.00	32	0	A	NM_020208		45817259	-1			no_errors	ENST00000358525	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.001	G
SLC7A14	57709	genome.wustl.edu	37	3	170219048	170219048	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:170219048C>G	ENST00000231706.5	-	3	706	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	131					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AAAAATGCCACAAATTCCCCA	0.532																																																	0													73.0	72.0	72.0					3																	170219048		2203	4300	6503	SO:0001583	missense	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.391G>C	3.37:g.170219048C>G	ENSP00000231706:p.Val131Leu		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.V131L	ENST00000231706.5	37	c.391	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340496	0.60963	.	.	ENSG00000013293	ENST00000231706	D	0.90676	-2.71	5.46	4.56	0.56223	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	L	0.33189	0.99	0.58432	D	0.999999	P	0.52463	0.953	P	0.54759	0.76	D	0.86316	0.1689	10	0.11794	T	0.64	.	16.4516	0.83993	0.0:0.8685:0.1315:0.0	.	131	Q8TBB6	S7A14_HUMAN	L	131	ENSP00000231706:V131L	ENSP00000231706:V131L	V	-	1	0	SLC7A14	171701742	1.000000	0.71417	0.909000	0.35828	0.987000	0.75469	5.934000	0.70138	1.392000	0.46585	0.561000	0.74099	GTG	SLC7A14	-	pfam_AA-permease/SLC12A_dom	ENSG00000013293		0.532	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2		0.00	29	0	C	NM_020949		170219048	-1			no_errors	ENST00000231706	ensembl	human	known	74_37	missense	16.22	62	12	SNP	1.000	G
SMG1	23049	genome.wustl.edu	37	16	18849424	18849424	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:18849424C>T	ENST00000446231.2	-	45	7737	c.7325G>A	c.(7324-7326)gGc>gAc	p.G2442D	SMG1_ENST00000389467.3_Missense_Mutation_p.G2442D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2442	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGCCTGCTGGCCACCTCCACC	0.582																																																	0													37.0	40.0	39.0					16																	18849424		2090	4214	6304	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7325G>A	16.37:g.18849424C>T	ENSP00000402515:p.Gly2442Asp		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G2442D	ENST00000446231.2	37	c.7325	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189376	0.78789	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01145	5.27;5.27	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.64402	D	0.000001	T	0.02533	0.0077	N	0.11201	0.11	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.77357	-0.2618	10	0.12430	T	0.62	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	2442	Q96Q15	SMG1_HUMAN	D	2442	ENSP00000402515:G2442D;ENSP00000374118:G2442D	ENSP00000374118:G2442D	G	-	2	0	SMG1	18756925	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.740000	0.84986	2.865000	0.98341	0.655000	0.94253	GGC	SMG1	-	superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000157106		0.582	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1		0.00	21	0	C	NM_015092		18849424	-1			no_errors	ENST00000389467	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25473974	25473974	+	RNA	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr15:25473974C>A	ENST00000453082.2	+	0	1286				SNORD115-33_ENST00000363723.1_RNA|SNORD115-31_ENST00000365318.1_RNA|SNORD115-32_ENST00000364079.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GGCCCCAGGCCAATGTCTGTC	0.577																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25473974C>A				RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.577	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126730.2		0.00	25	0	C			25473974	+1			no_errors	ENST00000453082	ensembl	human	known	74_37	rna	36.36	7	4	SNP	0.048	A
SPAST	6683	genome.wustl.edu	37	2	32289128	32289128	+	Silent	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:32289128G>T	ENST00000315285.3	+	1	353	c.228G>T	c.(226-228)gtG>gtT	p.V76V	SPAST_ENST00000345662.1_Silent_p.V76V	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTCTTCGTGTGGCTCTGCC	0.682																																																	0													39.0	36.0	37.0					2																	32289128		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.228G>T	2.37:g.32289128G>T				Silent	SNP	pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin	p.V76	ENST00000315285.3	37	c.228	CCDS1778.1	2																																																																																			SPAST	-	pirsf_Spastin	ENSG00000021574		0.682	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAST	HGNC	protein_coding	OTTHUMT00000250253.1		0.00	50	0	G	NM_199436		32289128	+1			no_errors	ENST00000315285	ensembl	human	known	74_37	silent	40.00	33	22	SNP	0.999	T
SPATA31A6	389730	genome.wustl.edu	37	9	43628646	43628646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:43628646G>T	ENST00000332857.6	-	3	324	c.296C>A	c.(295-297)tCa>tAa	p.S99*	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	99					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGCAGTTGTGAAAGAAGGTC	0.607																																																	0																																										SO:0001587	stop_gained	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.296C>A	9.37:g.43628646G>T	ENSP00000329825:p.Ser99*			Nonsense_Mutation	SNP	NULL	p.S99*	ENST00000332857.6	37	c.296	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074898	0.36566	.	.	ENSG00000185775	ENST00000332857	.	.	.	1.69	-0.293	0.12835	.	0.222920	0.22942	N	0.053764	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.1372	0.10176	0.4106:0.0:0.5894:0.0	.	.	.	.	X	99	.	ENSP00000329825:S99X	S	-	2	0	FAM75A6	43568642	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.584000	0.23864	-0.092000	0.12417	-0.515000	0.04445	TCA	SPATA31A6	-	NULL	ENSG00000185775		0.607	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1		0.00	123	0	G	NM_001145196		43628646	-1			no_errors	ENST00000332857	ensembl	human	known	74_37	nonsense	30.61	102	45	SNP	0.001	T
SPDYE3	441272	genome.wustl.edu	37	7	99917260	99917260	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:99917260G>A	ENST00000332397.6	+	9	1603	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	SPDYE3_ENST00000437326.2_Silent_p.K96K	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	473										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGTACGGGAAGACCCACTCTC	0.532																																																	0													124.0	132.0	129.0					7																	99917260		2203	4300	6503	SO:0001819	synonymous_variant	0			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1419G>A	7.37:g.99917260G>A			Q495Y9|Q6PHC4	Silent	SNP	pfam_Cell_cycle_regulatory_Spy1	p.K473	ENST00000332397.6	37	c.1419	CCDS47658.2	7																																																																																			SPDYE3	-	pfam_Cell_cycle_regulatory_Spy1	ENSG00000214300		0.532	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2		0.00	159	0	G	NM_001004351		99917260	+1			no_errors	ENST00000332397	ensembl	human	known	74_37	silent	19.03	217	51	SNP	0.004	A
SPHKAP	80309	genome.wustl.edu	37	2	228996765	228996765	+	Silent	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:228996765T>C	ENST00000392056.3	-	2	115	c.69A>G	c.(67-69)gaA>gaG	p.E23E	SPHKAP_ENST00000344657.5_Silent_p.E23E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	23						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		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;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTGCTGCGGTTCCAAAACGT	0.473																																																	0													89.0	92.0	91.0					2																	228996765		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.69A>G	2.37:g.228996765T>C			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.E23	ENST00000392056.3	37	c.69	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1		0.00	48	0	T	NM_030623		228996765	-1			no_errors	ENST00000392056	ensembl	human	known	74_37	silent	40.62	19	13	SNP	0.000	C
SPTA1	6708	genome.wustl.edu	37	1	158619670	158619670	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:158619670G>T	ENST00000368147.4	-	25	3725	c.3545C>A	c.(3544-3546)gCc>gAc	p.A1182D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1182					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACAGCATGGGCACTGCCCAG	0.438																																																	0													31.0	31.0	31.0					1																	158619670		1834	4089	5923	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3545C>A	1.37:g.158619670G>T	ENSP00000357129:p.Ala1182Asp		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.A1182D	ENST00000368147.4	37	c.3545	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328655	0.81690	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.78707	-1.2;-1.2	5.08	4.16	0.48862	.	0.000000	0.32120	N	0.006556	D	0.87688	0.6240	M	0.90870	3.155	0.51482	D	0.999924	D	0.71674	0.998	D	0.75484	0.986	D	0.90488	0.4465	10	0.72032	D	0.01	.	13.7782	0.63066	0.0:0.0:0.8452:0.1548	.	1182	P02549	SPTA1_HUMAN	D	1182	ENSP00000357130:A1182D;ENSP00000357129:A1182D	ENSP00000357129:A1182D	A	-	2	0	SPTA1	156886294	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.717000	0.74707	1.340000	0.45581	0.650000	0.86243	GCC	SPTA1	-	NULL	ENSG00000163554		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0.00	38	0	G	NM_003126		158619670	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
SPTBN4	57731	genome.wustl.edu	37	19	41029495	41029495	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:41029495G>A	ENST00000352632.3	+	17	3892	c.3806G>A	c.(3805-3807)gGc>gAc	p.G1269D	SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1269D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1269D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G1269D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1269D|SPTBN4_ENST00000392025.1_5'Flank			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1269					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGAGGCAGGGCAACATCTAC	0.632																																																	0													58.0	50.0	53.0					19																	41029495		2203	4300	6503	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3806G>A	19.37:g.41029495G>A	ENSP00000263373:p.Gly1269Asp		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.G1269D	ENST00000352632.3	37	c.3806	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	g	12.08	1.831395	0.32329	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.36340	1.26;1.28;1.28	4.31	3.24	0.37175	.	0.366608	0.25004	U	0.033887	T	0.28300	0.0699	L	0.36672	1.1	0.80722	D	1	B;B	0.23377	0.084;0.053	B;B	0.28638	0.014;0.092	T	0.06954	-1.0798	10	0.25751	T	0.34	.	11.5693	0.50824	0.093:0.0:0.907:0.0	.	1269;1269	Q9H254;Q71S06	SPTN4_HUMAN;.	D	1269	ENSP00000263373:G1269D;ENSP00000340345:G1269D;ENSP00000340741:G1269D	ENSP00000340345:G1269D	G	+	2	0	SPTBN4	45721335	0.997000	0.39634	1.000000	0.80357	0.396000	0.30629	2.647000	0.46639	2.245000	0.73994	0.165000	0.16767	GGC	SPTBN4	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000160460		0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2		0.00	42	0	G			41029495	+1			no_errors	ENST00000352632	ensembl	human	known	74_37	missense	15.62	26	5	SNP	0.999	A
SPTLC2	9517	genome.wustl.edu	37	14	78023490	78023490	+	Splice_Site	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr14:78023490C>T	ENST00000216484.2	-	7	1044		c.e7-1		SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2						ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CTTTGCATATCTACAGAGCAC	0.413																																																	0													76.0	68.0	71.0					14																	78023490		2203	4300	6503	SO:0001630	splice_region_variant	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.851-1G>A	14.37:g.78023490C>T			Q16685	Splice_Site	SNP	-	e7-1	ENST00000216484.2	37	c.851-1	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135028	0.37728	.	.	ENSG00000100596	ENST00000216484;ENST00000554901	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7783	0.91920	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTLC2	77093243	1.000000	0.71417	0.991000	0.47740	0.224000	0.24922	7.818000	0.86416	2.499000	0.84300	0.563000	0.77884	.	SPTLC2	-	-	ENSG00000100596		0.413	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1		0.00	25	0	C	NM_004863	Intron	78023490	-1			no_errors	ENST00000216484	ensembl	human	known	74_37	splice_site	21.62	29	8	SNP	1.000	T
ST6GAL2	84620	genome.wustl.edu	37	2	107450593	107450593	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:107450593T>C	ENST00000409382.3	-	3	1563	c.953A>G	c.(952-954)gAt>gGt	p.D318G	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.D318G|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.D318G	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	318					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAAAACCGCATCATGAGAATC	0.368																																																	0													149.0	145.0	147.0					2																	107450593		2203	4300	6503	SO:0001583	missense	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.953A>G	2.37:g.107450593T>C	ENSP00000386942:p.Asp318Gly		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.D318G	ENST00000409382.3	37	c.953	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	T	25.2	4.618048	0.87359	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.56776	0.44;0.44;0.44	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.86573	2.825	0.80722	D	1	P;P	0.50066	0.716;0.931	B;P	0.53988	0.323;0.739	T	0.77225	-0.2666	10	0.87932	D	0	-31.0326	15.7393	0.77876	0.0:0.0:0.0:1.0	.	318;318	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	G	318	ENSP00000355273:D318G;ENSP00000386942:D318G;ENSP00000387332:D318G	ENSP00000355273:D318G	D	-	2	0	ST6GAL2	106817025	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	GAT	ST6GAL2	-	pfam_Glyco_trans_29	ENSG00000144057		0.368	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1		0.00	24	0	T	NM_032528		107450593	-1			no_errors	ENST00000361686	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	C
SYT4	6860	genome.wustl.edu	37	18	40853827	40853827	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr18:40853827G>A	ENST00000255224.3	-	2	935	c.567C>T	c.(565-567)acC>acT	p.T189T	SYT4_ENST00000590752.1_Silent_p.T171T|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	189	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ATGGGTCAGAGGTCATCGACT	0.443																																					NSCLC(85;81 1419 2855 22820 35912)												0													77.0	76.0	77.0					18																	40853827		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.567C>T	18.37:g.40853827G>A			B4DEU3|Q9P2K4	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.T189	ENST00000255224.3	37	c.567	CCDS11922.1	18																																																																																			SYT4	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000132872		0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2		0.00	39	0	G	NM_020783		40853827	-1			no_errors	ENST00000255224	ensembl	human	known	74_37	silent	26.74	63	23	SNP	1.000	A
TAAR8	83551	genome.wustl.edu	37	6	132874111	132874111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:132874111G>T	ENST00000275200.1	+	1	280	c.280G>T	c.(280-282)Gag>Tag	p.E94*		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	94					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CAGGACGGTGGAGAGCTGCTG	0.478																																																	0													177.0	158.0	164.0					6																	132874111		2203	4300	6503	SO:0001587	stop_gained	0			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.280G>T	6.37:g.132874111G>T	ENSP00000275200:p.Glu94*		Q5VUQ0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.E94*	ENST00000275200.1	37	c.280	CCDS5154.1	6	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250168	0.59212	.	.	ENSG00000146385	ENST00000275200	.	.	.	4.72	4.72	0.59763	.	0.091629	0.41001	D	0.000979	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.4774	11.6799	0.51451	0.0814:0.0:0.9186:0.0	.	.	.	.	X	94	.	ENSP00000275200:E94X	E	+	1	0	TAAR8	132915804	0.997000	0.39634	0.948000	0.38648	0.450000	0.32258	3.203000	0.51075	2.593000	0.87608	0.655000	0.94253	GAG	TAAR8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TAAR_fam	ENSG00000146385		0.478	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR8	HGNC	protein_coding	OTTHUMT00000042262.1		0.00	76	0	G	NM_053278		132874111	+1			no_errors	ENST00000275200	ensembl	human	known	74_37	nonsense	48.08	27	25	SNP	0.869	T
TAAR5	9038	genome.wustl.edu	37	6	132910226	132910226	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:132910226C>A	ENST00000258034.2	-	1	651	c.600G>T	c.(598-600)tgG>tgT	p.W200C		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	200					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TTAACCAGCCCCAAAATTTAT	0.478																																																	0													46.0	47.0	47.0					6																	132910226		2203	4299	6502	SO:0001583	missense	0			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.600G>T	6.37:g.132910226C>A	ENSP00000258034:p.Trp200Cys		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.W200C	ENST00000258034.2	37	c.600	CCDS5156.1	6	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110368	0.56398	.	.	ENSG00000135569	ENST00000258034	T	0.37235	1.21	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.49541	0.1563	M	0.87971	2.92	0.80722	D	1	P	0.37573	0.6	P	0.45577	0.486	T	0.55379	-0.8150	10	0.72032	D	0.01	-9.1891	19.769	0.96353	0.0:1.0:0.0:0.0	.	200	O14804	TAAR5_HUMAN	C	200	ENSP00000258034:W200C	ENSP00000258034:W200C	W	-	3	0	TAAR5	132951919	0.111000	0.22076	1.000000	0.80357	0.998000	0.95712	1.105000	0.31086	2.906000	0.99361	0.655000	0.94253	TGG	TAAR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000135569		0.478	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1		0.00	28	0	C	NM_003967		132910226	-1			no_errors	ENST00000258034	ensembl	human	known	74_37	missense	44.44	10	8	SNP	0.999	A
TBC1D21	161514	genome.wustl.edu	37	15	74173813	74173813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr15:74173813C>A	ENST00000300504.2	+	2	217	c.134C>A	c.(133-135)tCa>tAa	p.S45*	TBC1D21_ENST00000535547.2_Intron|TBC1D21_ENST00000562056.1_Nonsense_Mutation_p.S45*	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	45						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TTGGCCAAATCACGGGACTTC	0.542																																																	0													109.0	99.0	103.0					15																	74173813		2198	4297	6495	SO:0001587	stop_gained	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.134C>A	15.37:g.74173813C>A	ENSP00000300504:p.Ser45*		B9A6M2	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S45*	ENST00000300504.2	37	c.134	CCDS10252.1	15	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906315	0.33628	.	.	ENSG00000167139	ENST00000300504	.	.	.	5.02	3.09	0.35607	.	0.579523	0.14494	N	0.316172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2819	11.5077	0.50476	0.0:0.6493:0.3507:0.0	.	.	.	.	X	45	.	ENSP00000300504:S45X	S	+	2	0	TBC1D21	71960866	0.937000	0.31787	0.129000	0.21949	0.021000	0.10359	2.407000	0.44565	0.669000	0.31146	-0.175000	0.13238	TCA	TBC1D21	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000167139		0.542	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1		0.00	48	0	C	NM_153356		74173813	+1			no_errors	ENST00000300504	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	0.192	A
TDP2	51567	genome.wustl.edu	37	6	24651204	24651204	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:24651204T>C	ENST00000378198.4	-	7	1071	c.901A>G	c.(901-903)Atg>Gtg	p.M301V	TDP2_ENST00000545995.1_Missense_Mutation_p.M331V|TDP2_ENST00000341060.3_Missense_Mutation_p.M243V			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	301					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TTAGAGTTCATTTGTGTATCC	0.403								Direct reversal of damage																																									0													112.0	115.0	114.0					6																	24651204		2203	4300	6503	SO:0001583	missense	0			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.901A>G	6.37:g.24651204T>C	ENSP00000367440:p.Met301Val		B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like	p.M331V	ENST00000378198.4	37	c.991	CCDS4557.1	6	.	.	.	.	.	.	.	.	.	.	T	6.388	0.439785	0.12104	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.79845	-1.31;-1.31;-1.31	6.07	-0.332	0.12675	Endonuclease/exonuclease/phosphatase (2);	0.573867	0.20304	N	0.094976	T	0.26738	0.0654	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39941	-0.9589	10	0.25106	T	0.35	-19.9468	4.6745	0.12705	0.1402:0.5116:0.1285:0.2197	.	301	O95551	TYDP2_HUMAN	V	301;331;223;243	ENSP00000367440:M301V;ENSP00000437637:M331V;ENSP00000345345:M243V	ENSP00000345345:M243V	M	-	1	0	TDP2	24759183	0.002000	0.14202	0.138000	0.22173	0.983000	0.72400	0.038000	0.13862	-0.026000	0.13895	0.533000	0.62120	ATG	TDP2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000111802		0.403	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TDP2	HGNC	protein_coding	OTTHUMT00000040012.1		0.00	20	0	T			24651204	-1			no_errors	ENST00000545995	ensembl	human	known	74_37	missense	54.55	10	12	SNP	0.025	C
TDRD3	81550	genome.wustl.edu	37	13	61103305	61103305	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr13:61103305G>T	ENST00000196169.3	+	11	2455	c.1667G>T	c.(1666-1668)tGg>tTg	p.W556L	TDRD3_ENST00000377894.2_Missense_Mutation_p.W556L|TDRD3_ENST00000535286.1_Missense_Mutation_p.W649L|TDRD3_ENST00000377881.2_Missense_Mutation_p.W556L	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	556	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.W556L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GCAAAAATGTGGAAACCTGGA	0.333																																					Colon(36;164 906 35820 50723)												1	Substitution - Missense(1)	endometrium(1)											63.0	67.0	66.0					13																	61103305		2203	4300	6503	SO:0001583	missense	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1667G>T	13.37:g.61103305G>T	ENSP00000196169:p.Trp556Leu		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.W649L	ENST00000196169.3	37	c.1946	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306113	0.81247	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.84	5.84	0.93424	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.152230	0.64402	D	0.000008	T	0.22205	0.0535	L	0.47078	1.49	0.80722	D	1	P;P;D	0.54047	0.661;0.946;0.964	B;B;P	0.58013	0.2;0.243;0.831	T	0.00007	-1.2488	10	0.87932	D	0	-5.7463	20.5276	0.99231	0.0:0.0:1.0:0.0	.	649;555;556	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	L	556;556;556;649	ENSP00000196169:W556L;ENSP00000367113:W556L;ENSP00000367126:W556L;ENSP00000440190:W649L	ENSP00000196169:W556L	W	+	2	0	TDRD3	60001306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.432000	0.90288	2.937000	0.99478	0.650000	0.86243	TGG	TDRD3	-	pfam_Tudor,pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor	ENSG00000083544		0.333	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2		0.00	44	0	G	NM_030794		61103305	+1			no_errors	ENST00000535286	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
TEK	7010	genome.wustl.edu	37	9	27158010	27158010	+	Silent	SNP	G	G	T	rs55892210	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr9:27158010G>T	ENST00000380036.4	+	2	676	c.234G>T	c.(232-234)gtG>gtT	p.V78V	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Silent_p.V78V	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	78	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CTCAAGATGTGACCAGAGAAT	0.488																																																	0													93.0	93.0	93.0					9																	27158010		2203	4300	6503	SO:0001819	synonymous_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.234G>T	9.37:g.27158010G>T			A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V78	ENST00000380036.4	37	c.234	CCDS6519.1	9																																																																																			TEK	-	pfam_Tyr_kin_Tie2_Ig-like_dom-1_N	ENSG00000120156		0.488	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3		0.00	62	0	G			27158010	+1			no_errors	ENST00000380036	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.903	T
THSD7A	221981	genome.wustl.edu	37	7	11630185	11630185	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:11630185G>A	ENST00000423059.4	-	4	1606	c.1355C>T	c.(1354-1356)aCg>aTg	p.T452M		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	452	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGAGGGCCGTCTGGTTGCC	0.542										HNSCC(18;0.044)																																							0													53.0	58.0	57.0					7																	11630185		1984	4154	6138	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1355C>T	7.37:g.11630185G>A	ENSP00000406482:p.Thr452Met			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.T452M	ENST00000423059.4	37	c.1355	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046714	0.93740	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61859	0.07	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	M	0.80183	2.485	0.80722	D	1	P	0.37441	0.595	B	0.38803	0.282	T	0.69953	-0.5005	10	0.62326	D	0.03	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	452	Q9UPZ6	THS7A_HUMAN	M	452	ENSP00000406482:T452M	ENSP00000262042:T452M	T	-	2	0	THSD7A	11596710	1.000000	0.71417	0.969000	0.41365	0.958000	0.62258	7.912000	0.87465	2.748000	0.94277	0.655000	0.94253	ACG	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.542	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4		0.00	56	0	G	XM_928187.2		11630185	-1			no_errors	ENST00000423059	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	A
THSD7B	80731	genome.wustl.edu	37	2	137872828	137872829	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr2:137872828_137872829GC>AA	ENST00000409968.1	+	5	1512_1513	c.1334_1335GC>AA	c.(1333-1335)aGC>aAA	p.S445K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S414K|THSD7B_ENST00000272643.3_Missense_Mutation_p.S445K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	445	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTGCCCAGAGCGTACCAGCAG	0.614																																																	0																																										SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	Exception_encountered	2.37:g.137872828_137872829delinsAA	ENSP00000387145:p.Ser445Lys			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S445N|p.S445R	ENST00000409968.1	37	c.1334|c.1335		2																																																																																			THSD7B	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.614	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2		0.00	39|38	0	G|C	XM_046570.9		137872828|137872829	+1			no_errors	ENST00000272643	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.081|0.005	A
TIMM22	29928	genome.wustl.edu	37	17	900388	900388	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:900388G>A	ENST00000327158.4	+	1	32	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	2					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTGTCATGGCGGCGGCCGCCC	0.662																																																	0													10.0	14.0	13.0					17																	900388		2059	4094	6153	SO:0001819	synonymous_variant	0			AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.6G>A	17.37:g.900388G>A			Q9NWI8	Silent	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.A2	ENST00000327158.4	37	c.6	CCDS32521.1	17																																																																																			TIMM22	-	NULL	ENSG00000177370		0.662	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM22	HGNC	protein_coding	OTTHUMT00000450107.2		0.00	10	0	G	NM_013337		900388	+1			no_errors	ENST00000327158	ensembl	human	known	74_37	silent	24.14	22	7	SNP	1.000	A
TMEM132A	54972	genome.wustl.edu	37	11	60704101	60704101	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:60704101G>A	ENST00000453848.2	+	11	2952	c.2794G>A	c.(2794-2796)Gag>Aag	p.E932K	TMEM132A_ENST00000005286.4_Missense_Mutation_p.E933K			Q24JP5	T132A_HUMAN	transmembrane protein 132A	932	Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGGAGGAGGGGAGGCCCCTAC	0.721																																																	0													8.0	11.0	10.0					11																	60704101		2153	4234	6387	SO:0001583	missense	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2794G>A	11.37:g.60704101G>A	ENSP00000405823:p.Glu932Lys		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.E933K	ENST00000453848.2	37	c.2797	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120287	0.37436	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.05996	3.36;3.36	4.23	4.23	0.50019	.	1.273180	0.05259	N	0.515344	T	0.09949	0.0244	L	0.40543	1.245	0.25431	N	0.988183	B;B	0.25609	0.058;0.13	B;B	0.24701	0.055;0.055	T	0.30504	-0.9976	10	0.87932	D	0	-10.9101	14.4964	0.67691	0.0:0.0:1.0:0.0	.	932;933	Q24JP5;Q24JP5-2	T132A_HUMAN;.	K	683;932;933	ENSP00000405823:E932K;ENSP00000005286:E933K	ENSP00000005286:E933K	E	+	1	0	TMEM132A	60460677	1.000000	0.71417	0.293000	0.24932	0.871000	0.50021	3.851000	0.55926	2.336000	0.79503	0.655000	0.94253	GAG	TMEM132A	-	NULL	ENSG00000006118		0.721	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1		0.00	13	0	G	NM_017870		60704101	+1			no_errors	ENST00000005286	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.998	A
TMEM25	84866	genome.wustl.edu	37	11	118404171	118404171	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr11:118404171G>A	ENST00000313236.5	+	5	763	c.710G>A	c.(709-711)gGc>gAc	p.G237D	RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000544878.1_Missense_Mutation_p.G140D|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000359862.4_Intron|TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000524725.1_Intron|TMEM25_ENST00000411589.2_Intron|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000354284.4_Missense_Mutation_p.G237D|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000533102.1_Missense_Mutation_p.G237D|TMEM25_ENST00000529001.1_3'UTR|RP11-770J1.3_ENST00000525992.2_RNA	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	237						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCACTGCTGGGCATTGTTGTG	0.597																																																	0													79.0	77.0	77.0					11																	118404171		2200	4295	6495	SO:0001583	missense	0			AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.710G>A	11.37:g.118404171G>A	ENSP00000315635:p.Gly237Asp		A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like_dom	p.G237D	ENST00000313236.5	37	c.710	CCDS8398.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142529	0.77888	.	.	ENSG00000149582	ENST00000528373;ENST00000544878;ENST00000354284;ENST00000533102;ENST00000313236	T;T;T;T;T	0.63744	-0.06;0.74;1.28;1.24;1.4	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	L	0.29908	0.895	0.48452	D	0.999656	D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;1.0	D;P;D;D;D	0.77004	0.983;0.888;0.922;0.983;0.989	T	0.71652	-0.4528	10	0.87932	D	0	-22.3836	14.3478	0.66678	0.0:0.1482:0.8518:0.0	.	140;237;237;237;237	F5H294;Q86YD3;B7Z4E4;Q86YD3-4;E9PKP3	.;TMM25_HUMAN;.;.;.	D	140;140;237;237;237	ENSP00000432040:G140D;ENSP00000439408:G140D;ENSP00000346237:G237D;ENSP00000431548:G237D;ENSP00000315635:G237D	ENSP00000315635:G237D	G	+	2	0	TMEM25	117909381	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	5.647000	0.67923	2.769000	0.95229	0.563000	0.77884	GGC	TMEM25	-	NULL	ENSG00000149582		0.597	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM25	HGNC	protein_coding	OTTHUMT00000389266.1		0.00	48	0	G	NM_032780		118404171	+1			no_errors	ENST00000533102	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A
TMPRSS9	360200	genome.wustl.edu	37	19	2418044	2418044	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:2418044G>A	ENST00000332578.3	+	12	1960	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	654	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GGGCATCATAGACCAGAAAAC	0.562																																																	0													197.0	186.0	190.0					19																	2418044		2203	4300	6503	SO:0001583	missense	0			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1960G>A	19.37:g.2418044G>A	ENSP00000330264:p.Asp654Asn		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.D654N	ENST00000332578.3	37	c.1960	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653006	0.47362	.	.	ENSG00000178297	ENST00000332578	T	0.60299	0.2	4.28	4.28	0.50868	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.102758	0.42172	D	0.000748	T	0.58963	0.2159	L	0.33792	1.035	0.44995	D	0.998014	D	0.63046	0.992	D	0.63703	0.917	T	0.54221	-0.8326	10	0.02654	T	1	.	15.6427	0.77020	0.0:0.0:1.0:0.0	.	654	Q7Z410	TMPS9_HUMAN	N	654	ENSP00000330264:D654N	ENSP00000330264:D654N	D	+	1	0	TMPRSS9	2369044	0.998000	0.40836	0.980000	0.43619	0.183000	0.23260	3.570000	0.53834	2.112000	0.64535	0.542000	0.68232	GAC	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178297		0.562	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3		0.00	27	0	G	NM_182973		2418044	+1			no_errors	ENST00000332578	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.995	A
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	15	0	C	NM_000546		7578406	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	92.00	2	23	SNP	1.000	T
TPR	7175	genome.wustl.edu	37	1	186304481	186304481	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:186304481G>T	ENST00000367478.4	-	34	5196	c.4900C>A	c.(4900-4902)Cct>Act	p.P1634T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1634					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.P1635S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTATTAGAAGGTTCTTGAGGC	0.398			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	1	Substitution - Missense(1)	skin(1)											126.0	113.0	117.0					1																	186304481		1874	4120	5994	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4900C>A	1.37:g.186304481G>T	ENSP00000356448:p.Pro1634Thr		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.P1634T	ENST00000367478.4	37	c.4900	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	4.289	0.052845	0.08291	.	.	ENSG00000047410	ENST00000367478	T	0.22336	1.96	5.07	2.0	0.26442	.	0.232489	0.45606	D	0.000357	T	0.07954	0.0199	N	0.12182	0.205	0.30953	N	0.724463	B	0.02656	0.0	B	0.01281	0.0	T	0.16482	-1.0401	10	0.13853	T	0.58	.	2.5787	0.04813	0.2718:0.0:0.3469:0.3814	.	1634	P12270	TPR_HUMAN	T	1634	ENSP00000356448:P1634T	ENSP00000356448:P1634T	P	-	1	0	TPR	184571104	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.266000	0.43320	1.260000	0.44134	0.650000	0.86243	CCT	TPR	-	superfamily_Prefoldin	ENSG00000047410		0.398	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2		0.00	16	0	G	NM_003292		186304481	-1			no_errors	ENST00000367478	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.999	T
TPSB2	64499	genome.wustl.edu	37	16	1278443	1278443	+	RNA	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:1278443G>C	ENST00000339687.6	-	0	848				TPSB2_ENST00000430512.2_RNA|TPSB2_ENST00000445910.1_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GTCAGGCTTAGGACAGGGAAG	0.652																																																	0																																												0			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1278443G>C			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	RNA	SNP	-	NULL	ENST00000339687.6	37	NULL		16																																																																																			TPSB2	-	-	ENSG00000197253		0.652	TPSB2-002	KNOWN	basic	processed_transcript	TPSB2	HGNC	polymorphic_pseudogene	OTTHUMT00000342364.1		0.00	10	0	G	NM_024164		1278443	-1			no_errors	ENST00000606293	ensembl	human	known	74_37	rna	50.00	5	5	SNP	0.098	C
TRAPPC9	83696	genome.wustl.edu	37	8	141293992	141293992	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr8:141293992G>T	ENST00000438773.2	-	14	2243	c.2110C>A	c.(2110-2112)Ccc>Acc	p.P704T	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.P802T|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P695T	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	704					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACTACCTGGGCAGAGAGGTG	0.483																																																	0													103.0	103.0	103.0					8																	141293992		2203	4300	6503	SO:0001583	missense	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2110C>A	8.37:g.141293992G>T	ENSP00000405060:p.Pro704Thr		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.P802T	ENST00000438773.2	37	c.2404	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.745179|4.745179	0.89663|0.89663	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.233345	.|0.44097	.|D	.|0.000492	T|T	0.75155|0.75155	0.3811|0.3811	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|P;B;D;P	.|0.59357	.|0.896;0.4;0.985;0.804	.|P;B;P;P	.|0.56434	.|0.673;0.405;0.798;0.645	T|T	0.77408|0.77408	-0.2599|-0.2599	5|9	.|0.72032	.|D	.|0.01	.|.	19.5027|19.5027	0.95103|0.95103	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|802;704;695;802	.|A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.|.;TPPC9_HUMAN;.;.	D|T	547|802;695;704	.|.	.|ENSP00000373978:P695T	A|P	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141363174|141363174	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	8.767000|8.767000	0.91732|0.91732	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	GCC|CCC	TRAPPC9	-	pfam_TRAPP_II_complex_Trs120	ENSG00000167632		0.483	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1		0.00	30	0	G	NM_031466		141293992	-1			no_errors	ENST00000389328	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T
TRERF1	55809	genome.wustl.edu	37	6	42236020	42236020	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr6:42236020C>G	ENST00000372922.4	-	5	1871	c.1309G>C	c.(1309-1311)Gcg>Ccg	p.A437P	TRERF1_ENST00000340840.2_Missense_Mutation_p.A437P|TRERF1_ENST00000541110.1_Missense_Mutation_p.A437P|TRERF1_ENST00000354325.2_Missense_Mutation_p.A437P|TRERF1_ENST00000372917.4_Missense_Mutation_p.A437P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	437					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTGAGCTCGCTGGGTCTCCC	0.627																																																	0													49.0	53.0	51.0					6																	42236020		2203	4300	6503	SO:0001583	missense	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1309G>C	6.37:g.42236020C>G	ENSP00000362013:p.Ala437Pro		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.A437P	ENST00000372922.4	37	c.1309	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	C	9.955	1.221216	0.22457	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13420	2.82;2.59;2.81;2.59;2.6	5.79	1.9	0.25705	.	0.497690	0.18421	N	0.141757	T	0.02649	0.0080	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.002;0.002;0.004;0.004	T	0.41395	-0.9511	10	0.44086	T	0.13	-1.2267	6.5768	0.22571	0.0:0.6572:0.1338:0.209	.	437;437;437;276;276	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	P	437	ENSP00000439689:A437P;ENSP00000362008:A437P;ENSP00000362013:A437P;ENSP00000339438:A437P;ENSP00000346285:A437P	ENSP00000339438:A437P	A	-	1	0	TRERF1	42343998	0.000000	0.05858	0.100000	0.21137	0.278000	0.26855	-1.126000	0.03254	0.743000	0.32719	0.561000	0.74099	GCG	TRERF1	-	NULL	ENSG00000124496		0.627	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2		0.00	21	0	C	NM_033502		42236020	-1			no_errors	ENST00000541110	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.002	G
TTC3	7267	genome.wustl.edu	37	21	38467699	38467699	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr21:38467699G>T	ENST00000399017.2	+	9	3484	c.737G>T	c.(736-738)aGa>aTa	p.R246I	TTC3_ENST00000399010.1_Missense_Mutation_p.R246I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.R246I|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Missense_Mutation_p.R246I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	246					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCCAAAGAAAGATTTGATATA	0.338																																					Ovarian(38;194 1649 35661)												0													78.0	83.0	81.0					21																	38467699		2203	4297	6500	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.737G>T	21.37:g.38467699G>T	ENSP00000381981:p.Arg246Ile		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.R246I	ENST00000399017.2	37	c.737	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940525	0.73557	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17	5.43	3.57	0.40892	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.209244	0.33127	N	0.005241	T	0.68165	0.2971	M	0.69823	2.125	0.80722	D	1	D	0.62365	0.991	D	0.64877	0.93	T	0.69636	-0.5092	10	0.72032	D	0.01	-21.4213	6.3123	0.21171	0.2805:0.0:0.7195:0.0	.	246	P53804	TTC3_HUMAN	I	246;246;228;246;246;246;246	ENSP00000403943:R246I;ENSP00000408456:R246I;ENSP00000391891:R228I;ENSP00000347889:R246I;ENSP00000381974:R246I;ENSP00000381981:R246I;ENSP00000346791:R246I	ENSP00000346791:R246I	R	+	2	0	TTC3	37389569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.414000	0.44627	1.407000	0.46875	0.650000	0.86243	AGA	TTC3	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000182670		0.338	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1		0.00	24	0	G			38467699	+1			no_errors	ENST00000354749	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
TUBB1	81027	genome.wustl.edu	37	20	57599009	57599009	+	Missense_Mutation	SNP	C	C	T	rs369101405		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr20:57599009C>T	ENST00000217133.1	+	4	796	c.527C>T	c.(526-528)tCg>tTg	p.S176L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	176					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCCAAGGTGTCGGACACTGTG	0.532																																																	0								C	LEU/SER	0,4406		0,0,2203	128.0	126.0	127.0		527	5.4	1.0	20		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUBB1	NM_030773.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	176/452	57599009	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.527C>T	20.37:g.57599009C>T	ENSP00000217133:p.Ser176Leu			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.S176L	ENST00000217133.1	37	c.527	CCDS13475.1	20	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024408	0.93518	0.0	1.16E-4	ENSG00000101162	ENST00000217133	T	0.71579	-0.58	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95248	0.8357	10	0.87932	D	0	.	18.1144	0.89546	0.0:1.0:0.0:0.0	.	176	Q9H4B7	TBB1_HUMAN	L	176	ENSP00000217133:S176L	ENSP00000217133:S176L	S	+	2	0	TUBB1	57032404	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.818000	0.86416	2.537000	0.85549	0.655000	0.94253	TCG	TUBB1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000101162		0.532	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1		0.00	48	0	C	NM_030773		57599009	+1			no_errors	ENST00000217133	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
UVSSA	57654	genome.wustl.edu	37	4	1369233	1369233	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:1369233C>G	ENST00000389851.4	+	9	1817	c.1370C>G	c.(1369-1371)cCc>cGc	p.P457R	UVSSA_ENST00000512728.1_Missense_Mutation_p.P8R|UVSSA_ENST00000507531.1_Missense_Mutation_p.P457R|UVSSA_ENST00000511216.1_Missense_Mutation_p.P457R|UVSSA_ENST00000511563.1_Missense_Mutation_p.P8R	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	457					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GTGTCGGACCCCACCTCTGCG	0.647																																																	0													120.0	101.0	108.0					4																	1369233		2203	4300	6503	SO:0001583	missense	0			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1370C>G	4.37:g.1369233C>G	ENSP00000374501:p.Pro457Arg		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	pfam_DUF2043,superfamily_ENTH_VHS	p.P457R	ENST00000389851.4	37	c.1370	CCDS33938.1	4	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827728	0.50845	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.21;-0.21	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	M	0.76328	2.33	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.85634	0.1272	10	0.87932	D	0	.	11.3174	0.49401	0.0:1.0:0.0:0.0	.	457	Q2YD98	K1530_HUMAN	R	8;457;457;457;8;8	ENSP00000425130:P457R;ENSP00000374501:P457R;ENSP00000421741:P457R;ENSP00000423340:P8R;ENSP00000427701:P8R	ENSP00000296312:P8R	P	+	2	0	KIAA1530	1359233	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	4.770000	0.62309	2.106000	0.64143	0.655000	0.94253	CCC	UVSSA	-	NULL	ENSG00000163945		0.647	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	HGNC	protein_coding	OTTHUMT00000359480.1		0.00	76	0	C	NM_020894		1369233	+1			no_errors	ENST00000389851	ensembl	human	known	74_37	missense	31.96	65	31	SNP	1.000	G
VWF	7450	genome.wustl.edu	37	12	6167105	6167105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:6167105C>A	ENST00000261405.5	-	14	1893	c.1639G>T	c.(1639-1641)Gag>Tag	p.E547*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	547	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCGAAGTCCTCCACCCGGGGC	0.647																																																	0													58.0	61.0	60.0					12																	6167105		2203	4300	6503	SO:0001587	stop_gained	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1639G>T	12.37:g.6167105C>A	ENSP00000261405:p.Glu547*		Q8TCE8|Q99806	Nonsense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.E547*	ENST00000261405.5	37	c.1639	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.954913	0.97960	.	.	ENSG00000110799	ENST00000261405	.	.	.	4.94	4.94	0.65067	.	0.197000	0.24424	N	0.038641	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	17.3452	0.87308	0.0:1.0:0.0:0.0	.	.	.	.	X	547	.	ENSP00000261405:E547X	E	-	1	0	VWF	6037366	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	5.736000	0.68597	2.567000	0.86603	0.491000	0.48974	GAG	VWF	-	pirsf_VWF	ENSG00000110799		0.647	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1		0.00	71	0	C	NM_000552		6167105	-1			no_errors	ENST00000261405	ensembl	human	known	74_37	nonsense	5.75	82	5	SNP	1.000	A
VPS37B	79720	genome.wustl.edu	37	12	123351980	123351980	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr12:123351980G>A	ENST00000267202.2	-	4	922	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	181	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GCCAGTTCGGGCAGCCTGGGG	0.697																																																	0													53.0	59.0	57.0					12																	123351980		2203	4298	6501	SO:0001583	missense	0			AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.541C>T	12.37:g.123351980G>A	ENSP00000267202:p.Pro181Ser			Missense_Mutation	SNP	pfam_Mod_r	p.P181S	ENST00000267202.2	37	c.541	CCDS9239.1	12	.	.	.	.	.	.	.	.	.	.	G	9.282	1.048313	0.19827	.	.	ENSG00000139722	ENST00000267202;ENST00000535765;ENST00000371248	T;T;D	0.83250	0.11;0.1;-1.7	5.44	2.58	0.30949	.	0.290535	0.39475	N	0.001344	T	0.73992	0.3658	L	0.45137	1.4	0.36411	D	0.863721	B	0.06786	0.001	B	0.06405	0.002	T	0.67381	-0.5685	10	0.39692	T	0.17	-12.4794	8.2421	0.31667	0.1499:0.4716:0.3785:0.0	.	181	Q9H9H4	VP37B_HUMAN	S	181;179;179	ENSP00000267202:P181S;ENSP00000446075:P179S;ENSP00000360294:P179S	ENSP00000267202:P181S	P	-	1	0	VPS37B	121917933	0.023000	0.18921	0.694000	0.30210	0.059000	0.15707	0.229000	0.17833	0.247000	0.21414	0.655000	0.94253	CCC	VPS37B	-	NULL	ENSG00000139722		0.697	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37B	HGNC	protein_coding	OTTHUMT00000400946.1		0.00	52	0	G	NM_024667		123351980	-1			no_errors	ENST00000267202	ensembl	human	known	74_37	missense	80.77	10	42	SNP	0.976	A
WDFY3	23001	genome.wustl.edu	37	4	85594028	85594028	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr4:85594028T>G	ENST00000295888.4	-	68	10981	c.10574A>C	c.(10573-10575)aAt>aCt	p.N3525T	WDFY3_ENST00000322366.6_Missense_Mutation_p.N3508T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3525	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTTCAACAATTTCGAGGCCC	0.453																																																	0													140.0	134.0	136.0					4																	85594028		2203	4300	6503	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10574A>C	4.37:g.85594028T>G	ENSP00000295888:p.Asn3525Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N3525T	ENST00000295888.4	37	c.10574	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825289	0.71143	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64618	-0.11;-0.11	5.76	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	N	0.22421	0.69	0.47584	D	0.999467	B	0.23058	0.079	B	0.18871	0.023	T	0.45160	-0.9280	10	0.87932	D	0	.	12.2725	0.54714	0.1272:0.0:0.0:0.8727	.	3525	Q8IZQ1	WDFY3_HUMAN	T	3508;3525	ENSP00000318466:N3508T;ENSP00000295888:N3525T	ENSP00000295888:N3525T	N	-	2	0	WDFY3	85813052	1.000000	0.71417	0.755000	0.31263	0.988000	0.76386	5.604000	0.67626	0.987000	0.38709	0.533000	0.62120	AAT	WDFY3	-	NULL	ENSG00000163625		0.453	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2		0.00	49	0	T	NM_014991		85594028	-1			no_errors	ENST00000295888	ensembl	human	known	74_37	missense	40.00	27	18	SNP	0.991	G
CFAP44	55779	genome.wustl.edu	37	3	113085073	113085073	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:113085073G>C	ENST00000295868.2	-	19	2690	c.2528C>G	c.(2527-2529)aCc>aGc	p.T843S	WDR52_ENST00000393845.2_Missense_Mutation_p.T843S	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CACCAAACTGGTCAATGAAGG	0.338																																																	0													103.0	93.0	97.0					3																	113085073		2203	4300	6503	SO:0001583	missense	0																														ENST00000295868.2:c.2528C>G	3.37:g.113085073G>C	ENSP00000295868:p.Thr843Ser			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T843S	ENST00000295868.2	37	c.2528	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.538746	0.00942	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.15952	2.38;2.38	5.59	-5.22	0.02806	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.10594	0.0259	L	0.46157	1.445	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.37753	-0.9692	8	.	.	.	.	2.2434	0.04025	0.2093:0.4072:0.1558:0.2277	.	843;843	Q96MT7;Q96MT7-2	WDR52_HUMAN;.	S	843	ENSP00000377428:T843S;ENSP00000295868:T843S	.	T	-	2	0	WDR52	114567763	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.504000	0.06375	-0.866000	0.04068	0.650000	0.86243	ACC	WDR52	-	superfamily_WD40_repeat_dom	ENSG00000206530		0.338	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3		0.00	48	0	G			113085073	-1			no_errors	ENST00000393845	ensembl	human	known	74_37	missense	13.64	56	9	SNP	0.000	C
WFIKKN1	117166	genome.wustl.edu	37	16	683045	683045	+	Missense_Mutation	SNP	G	G	A	rs146880296		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:683045G>A	ENST00000319070.2	+	2	957	c.635G>A	c.(634-636)cGc>cAc	p.R212H		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	212	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GTCAGCGGCCGCCCGCCGCCT	0.677																																																	0									HIS/ARG	1,4329		0,1,2164	20.0	23.0	22.0		635	0.5	0.8	16	dbSNP_134	22	0,8498		0,0,4249	no	missense	WFIKKN1	NM_053284.2	29	0,1,6413	AA,AG,GG		0.0,0.0231,0.0078	benign	212/549	683045	1,12827	2165	4249	6414	SO:0001583	missense	0			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.635G>A	16.37:g.683045G>A	ENSP00000324763:p.Arg212His		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m	p.R212H	ENST00000319070.2	37	c.635	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	g	11.30	1.598287	0.28445	2.31E-4	0.0	ENSG00000127578	ENST00000319070	T	0.67345	-0.26	4.71	0.512	0.16994	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.277185	0.36815	N	0.002395	T	0.55561	0.1928	N	0.03891	-0.335	0.38420	D	0.946164	D	0.89917	1.0	D	0.68765	0.96	T	0.57470	-0.7806	10	0.42905	T	0.14	.	8.397	0.32564	0.3346:0.0:0.6654:0.0	.	212	Q96NZ8	WFKN1_HUMAN	H	212	ENSP00000324763:R212H	ENSP00000324763:R212H	R	+	2	0	WFIKKN1	623046	0.191000	0.23288	0.813000	0.32504	0.927000	0.56198	2.921000	0.48852	-0.128000	0.11641	0.486000	0.48141	CGC	WFIKKN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000127578		0.677	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2		0.00	16	0	G	NM_053284		683045	+1			no_errors	ENST00000319070	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.976	A
WDR90	197335	genome.wustl.edu	37	16	710154	710154	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:710154C>G	ENST00000293879.4	+	27	3281	c.3281C>G	c.(3280-3282)tCt>tGt	p.S1094C	WDR90_ENST00000549091.1_Missense_Mutation_p.S1094C			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1094										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				AGCCCCCACTCTGCCAAGGTG	0.662																																																	0													16.0	23.0	21.0					16																	710154		1728	3741	5469	SO:0001583	missense	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3281C>G	16.37:g.710154C>G	ENSP00000293879:p.Ser1094Cys		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1094C	ENST00000293879.4	37	c.3281	CCDS42092.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.44|10.44	1.351847|1.351847	0.24512|0.24512	.|.	.|.	ENSG00000161996|ENSG00000161996	ENST00000550739|ENST00000549091;ENST00000293879	.|T;T	.|0.29142	.|1.62;1.58	1.48|1.48	0.476|0.476	0.16779|0.16779	.|.	.|1.010480	.|0.07957	.|N	.|0.981759	T|T	0.20740|0.20740	0.0499|0.0499	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|P;P	.|0.48230	.|0.907;0.878	.|B;B	.|0.44163	.|0.443;0.326	T|T	0.14587|0.14587	-1.0467|-1.0467	5|10	.|0.48119	.|T	.|0.1	.|.	3.7376|3.7376	0.08517|0.08517	0.0:0.7487:0.0:0.2513|0.0:0.7487:0.0:0.2513	.|.	.|1094;1094	.|F8VUX9;Q96KV7	.|.;WDR90_HUMAN	V|C	77|1094	.|ENSP00000448122:S1094C;ENSP00000293879:S1094C	.|ENSP00000293879:S1094C	L|S	+|+	1|2	2|0	WDR90|WDR90	650155|650155	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.157000|0.157000	0.22087|0.22087	0.250000|0.250000	0.18235|0.18235	0.199000|0.199000	0.20427|0.20427	0.491000|0.491000	0.48974|0.48974	CTG|TCT	WDR90	-	NULL	ENSG00000161996		0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1		0.00	49	0	C	NM_145294		710154	+1			no_errors	ENST00000549091	ensembl	human	novel	74_37	missense	28.85	37	15	SNP	0.001	G
YEATS2	55689	genome.wustl.edu	37	3	183476656	183476656	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:183476656C>T	ENST00000305135.5	+	13	1754	c.1559C>T	c.(1558-1560)cCt>cTt	p.P520L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	520					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.P520H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCAGGAAGTCCTACAAACAAG	0.383																																																	1	Substitution - Missense(1)	lung(1)											135.0	122.0	126.0					3																	183476656		1832	4080	5912	SO:0001583	missense	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1559C>T	3.37:g.183476656C>T	ENSP00000306983:p.Pro520Leu		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.P520L	ENST00000305135.5	37	c.1559	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221984	0.79464	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.28666	1.6	5.22	5.22	0.72569	.	0.073825	0.56097	D	0.000036	T	0.26048	0.0635	L	0.27053	0.805	0.80722	D	1	P	0.43094	0.799	B	0.38378	0.272	T	0.09552	-1.0669	10	0.87932	D	0	-17.9355	18.812	0.92061	0.0:1.0:0.0:0.0	.	520	Q9ULM3	YETS2_HUMAN	L	520	ENSP00000306983:P520L	ENSP00000306983:P520L	P	+	2	0	YEATS2	184959350	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.278000	0.72614	2.449000	0.82847	0.585000	0.79938	CCT	YEATS2	-	NULL	ENSG00000163872		0.383	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2		0.00	17	0	C	NM_018023		183476656	+1			no_errors	ENST00000305135	ensembl	human	known	74_37	missense	19.30	46	11	SNP	1.000	T
ZBED4	9889	genome.wustl.edu	37	22	50277614	50277614	+	Missense_Mutation	SNP	G	G	A	rs200978668		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr22:50277614G>A	ENST00000216268.5	+	2	781	c.304G>A	c.(304-306)Gtg>Atg	p.V102M		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	102						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CATGGAGGCCGTGACCCAGAG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18306	0.001		0.0	False		,,,				2504	0.0																0													58.0	64.0	62.0					22																	50277614		2203	4300	6503	SO:0001583	missense	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.304G>A	22.37:g.50277614G>A	ENSP00000216268:p.Val102Met		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.V102M	ENST00000216268.5	37	c.304	CCDS33677.1	22	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.22	3.575543	0.65878	.	.	ENSG00000100426	ENST00000216268	T	0.55760	0.5	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.65133	0.2662	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67193	-0.5732	10	0.72032	D	0.01	-26.4938	19.1664	0.93559	0.0:0.0:1.0:0.0	.	102	O75132	ZBED4_HUMAN	M	102	ENSP00000216268:V102M	ENSP00000216268:V102M	V	+	1	0	ZBED4	48663618	1.000000	0.71417	0.904000	0.35570	0.134000	0.20937	8.736000	0.91554	2.762000	0.94881	0.650000	0.86243	GTG	ZBED4	-	NULL	ENSG00000100426		0.557	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2		0.00	9	0	G	NM_014838		50277614	+1			no_errors	ENST00000216268	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	A
ZFR2	23217	genome.wustl.edu	37	19	3808898	3808898	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:3808898C>G	ENST00000262961.4	-	17	2527	c.2517G>C	c.(2515-2517)gaG>gaC	p.E839D		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	839	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TGGCCACGCACTCCAGGACTC	0.697																																																	0													11.0	15.0	14.0					19																	3808898		1999	4169	6168	SO:0001583	missense	0			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2517G>C	19.37:g.3808898C>G	ENSP00000262961:p.Glu839Asp			Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.E839D	ENST00000262961.4	37	c.2517	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808047	0.50421	.	.	ENSG00000105278	ENST00000262961	T	0.50813	0.73	3.97	1.74	0.24563	DZF (2);	0.000000	0.64402	U	0.000004	T	0.68201	0.2975	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69217	-0.5203	10	0.87932	D	0	-33.761	6.4965	0.22146	0.0:0.763:0.0:0.237	.	839	Q9UPR6	ZFR2_HUMAN	D	839	ENSP00000262961:E839D	ENSP00000262961:E839D	E	-	3	2	ZFR2	3759898	0.990000	0.36364	1.000000	0.80357	0.435000	0.31806	0.172000	0.16704	0.883000	0.36040	0.484000	0.47621	GAG	ZFR2	-	pfam_DZF,smart_DZF	ENSG00000105278		0.697	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2		0.00	22	0	C	NM_015174		3808898	-1			no_errors	ENST00000262961	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	G
ZMYND10	51364	genome.wustl.edu	37	3	50379081	50379081	+	Silent	SNP	G	G	T	rs150467144	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr3:50379081G>T	ENST00000231749.3	-	11	2443	c.1171C>A	c.(1171-1173)Cgg>Agg	p.R391R	ZMYND10_ENST00000490675.1_5'UTR|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000488024.1_5'Flank|ZMYND10_ENST00000360165.3_Silent_p.R386R|RASSF1_ENST00000359365.4_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	391	Interaction with LRRC6.				inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGCGGGGCCGCTCTGGAGCC	0.602										TSP Lung(30;0.18)																																							0													56.0	59.0	58.0					3																	50379081		2203	4300	6503	SO:0001819	synonymous_variant	0			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1171C>A	3.37:g.50379081G>T			A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.R391	ENST00000231749.3	37	c.1171	CCDS2825.1	3																																																																																			ZMYND10	-	pirsf_UCP037948_Znf-MYND	ENSG00000004838		0.602	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1		0.00	36	0	G	NM_015896		50379081	-1			no_errors	ENST00000231749	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.986	T
ZNF117	51351	genome.wustl.edu	37	7	64439388	64439388	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr7:64439388A>C	ENST00000282869.6	-	4	1845	c.561T>G	c.(559-561)caT>caG	p.H187Q		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	187					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTCTTCAGTATGAATTCTCT	0.363																																																	0													49.0	52.0	51.0					7																	64439388		2155	4275	6430	SO:0001583	missense	0			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.561T>G	7.37:g.64439388A>C	ENSP00000282869:p.His187Gln		Q02313|Q7Z7Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H187Q	ENST00000282869.6	37	c.561	CCDS43593.1	7	.	.	.	.	.	.	.	.	.	.	.	16.68	3.190003	0.58017	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.66995	-0.24	1.2	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81216	0.4776	M	0.93462	3.42	0.29053	N	0.884355	D	0.62365	0.991	D	0.65684	0.937	T	0.72070	-0.4401	9	0.72032	D	0.01	.	5.435	0.16476	0.4314:0.0:0.5686:0.0	.	187	Q03924	ZN117_HUMAN	Q	187	ENSP00000282869:H187Q	ENSP00000282869:H187Q	H	-	3	2	ZNF117	64076823	0.495000	0.26051	0.019000	0.16419	0.622000	0.37654	0.507000	0.22675	-0.340000	0.08388	0.172000	0.16884	CAT	ZNF117	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152926		0.363	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF117	HGNC	protein_coding	OTTHUMT00000344863.3		0.00	48	0	A	NM_024498		64439388	-1			no_errors	ENST00000282869	ensembl	human	known	74_37	missense	37.50	25	15	SNP	1.000	C
ZNF222	7673	genome.wustl.edu	37	19	44536478	44536478	+	Silent	SNP	A	A	G			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:44536478A>G	ENST00000187879.8	+	4	813	c.651A>G	c.(649-651)aaA>aaG	p.K217K	ZNF222_ENST00000391960.3_Silent_p.K257K|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CAGCACTTAAAGTTCATTGCA	0.408																																																	0													138.0	141.0	140.0					19																	44536478		2203	4300	6503	SO:0001819	synonymous_variant	0			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.651A>G	19.37:g.44536478A>G			G5E9B9|Q8N6G7|Q9P1U5	Silent	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.K257	ENST00000187879.8	37	c.771	CCDS33045.1	19																																																																																			ZNF222	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000159885		0.408	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2		0.00	51	0	A			44536478	+1			no_errors	ENST00000391960	ensembl	human	known	74_37	silent	39.22	31	20	SNP	0.000	G
ZNF233	353355	genome.wustl.edu	37	19	44777239	44777239	+	Silent	SNP	G	G	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:44777239G>A	ENST00000391958.2	+	5	553	c.426G>A	c.(424-426)caG>caA	p.Q142Q	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	142					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(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCCCCTGTCAGGTGTGGACAG	0.383																																																	0													65.0	66.0	66.0					19																	44777239		2203	4300	6503	SO:0001819	synonymous_variant	0			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.426G>A	19.37:g.44777239G>A			B2RN78|B2RN79|Q86WL8	Silent	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.Q142	ENST00000391958.2	37	c.426	CCDS33047.1	19																																																																																			ZNF233	-	NULL	ENSG00000159915		0.383	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1		0.00	27	0	G	NM_181756		44777239	+1			no_errors	ENST00000391958	ensembl	human	known	74_37	silent	40.54	22	15	SNP	0.006	A
ZNF17	7565	genome.wustl.edu	37	19	57932243	57932243	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:57932243G>T	ENST00000601808.1	+	3	1596	c.1383G>T	c.(1381-1383)caG>caT	p.Q461H	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.Q463H	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ATAGACATCAGAGAGTTCACT	0.413																																					Melanoma(149;1637 1853 29914 42869 44988)												0													87.0	91.0	90.0					19																	57932243		2188	4293	6481	SO:0001583	missense	0			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1383G>T	19.37:g.57932243G>T	ENSP00000471905:p.Gln461His		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	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.Q461H	ENST00000601808.1	37	c.1383	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707682	0.30322	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.72	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40498	0.1119	M	0.83384	2.64	0.22719	N	0.998819	P;B	0.48911	0.917;0.092	B;B	0.40009	0.316;0.021	T	0.34850	-0.9812	8	0.59425	D	0.04	.	5.5836	0.17262	0.0:0.4081:0.3851:0.2068	.	463;461	P17021-2;P17021	.;ZNF17_HUMAN	H	461	.	ENSP00000302455:Q461H	Q	+	3	2	ZNF17	62624055	0.010000	0.17322	0.123000	0.21794	0.867000	0.49689	0.706000	0.25690	-0.474000	0.06862	0.467000	0.42956	CAG	ZNF17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186272		0.413	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1		0.00	32	0	G	NM_006959		57932243	+1			no_errors	ENST00000601808	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.905	T
ZNF337	26152	genome.wustl.edu	37	20	25666286	25666286	+	Missense_Mutation	SNP	G	G	T	rs139245838	byFrequency	TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr20:25666286G>T	ENST00000376436.1	-	3	706	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Missense_Mutation_p.S56Y|ZNF337_ENST00000481610.1_5'UTR			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	56	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)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTGGTTTAGAATGGAGAAT	0.587																																																	0													108.0	109.0	109.0					20																	25666286		2203	4300	6503	SO:0001583	missense	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.167C>A	20.37:g.25666286G>T	ENSP00000365619:p.Ser56Tyr		B4DSM2|Q9Y3Y5	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.S56Y	ENST00000376436.1	37	c.167	CCDS13174.1	20	.	.	.	.	.	.	.	.	.	.	.	3.976	-0.007342	0.07773	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412	T;T	0.00864	5.6;5.6	1.85	0.789	0.18607	Krueppel-associated box (3);	.	.	.	.	T	0.01092	0.0036	M	0.75777	2.31	0.09310	N	0.999999	D	0.54964	0.969	B	0.38106	0.265	T	0.35724	-0.9777	9	0.06099	T	0.92	.	7.3839	0.26872	0.0:0.2758:0.7242:0.0	.	56	Q9Y3M9	ZN337_HUMAN	Y	56	ENSP00000365619:S56Y;ENSP00000252979:S56Y	ENSP00000252979:S56Y	S	-	2	0	ZNF337	25614286	0.352000	0.24895	0.098000	0.21074	0.810000	0.45777	1.271000	0.33098	-0.027000	0.13873	0.461000	0.40582	TCT	ZNF337	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000130684		0.587	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1		0.00	41	0	G			25666286	-1			no_errors	ENST00000252979	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.019	T
ZNF454	285676	genome.wustl.edu	37	5	178373440	178373440	+	Silent	SNP	G	G	C			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr5:178373440G>C	ENST00000320129.3	+	3	417	c.114G>C	c.(112-114)ctG>ctC	p.L38L	ZNF454_ENST00000519564.1_Silent_p.L38L	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	38	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGAGGGCCCTGTACAGGGACG	0.552																																																	0													101.0	100.0	100.0					5																	178373440		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.114G>C	5.37:g.178373440G>C			Q2M1P2|Q2M323	Silent	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.L38	ENST00000320129.3	37	c.114	CCDS4441.1	5																																																																																			ZNF454	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000178187		0.552	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2		0.00	62	0	G	XM_209718		178373440	+1			no_errors	ENST00000320129	ensembl	human	known	74_37	silent	36.67	38	22	SNP	0.885	C
ZNF469	84627	genome.wustl.edu	37	16	88499063	88499063	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:88499063C>T	ENST00000437464.1	+	2	5101	c.5101C>T	c.(5101-5103)Cct>Tct	p.P1701S	ZNF469_ENST00000565624.1_Missense_Mutation_p.P1729S	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1701					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(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CAGCAAGCAGCCTGGCCCACA	0.587																																																	0													41.0	41.0	41.0					16																	88499063		692	1591	2283	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.5101C>T	16.37:g.88499063C>T	ENSP00000402343:p.Pro1701Ser			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1701S	ENST00000437464.1	37	c.5101	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	C	7.624	0.677537	0.14841	.	.	ENSG00000225614	ENST00000437464	T	0.06371	3.31	4.19	0.174	0.15040	.	.	.	.	.	T	0.02119	0.0066	N	0.14661	0.345	0.09310	N	1	P	0.38978	0.652	B	0.24974	0.057	T	0.37865	-0.9687	9	0.18276	T	0.48	.	0.2476	0.00201	0.2029:0.2747:0.2:0.3224	.	1701	Q96JG9	ZN469_HUMAN	S	1701	ENSP00000402343:P1701S	ENSP00000402343:P1701S	P	+	1	0	ZNF469	87026564	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.766000	0.04725	0.177000	0.19895	0.313000	0.20887	CCT	ZNF469	-	NULL	ENSG00000225614		0.587	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding			0.00	54	0	C	NG_012236		88499063	+1			no_errors	ENST00000437464	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.000	T
ZNF536	9745	genome.wustl.edu	37	19	30936483	30936483	+	Missense_Mutation	SNP	C	C	T	rs542487578		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:30936483C>T	ENST00000355537.3	+	2	2161	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	672					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R672C(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGATGAGCGGCGTGGCTCGGG	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		14366	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)											36.0	40.0	39.0					19																	30936483		2203	4298	6501	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2014C>T	19.37:g.30936483C>T	ENSP00000347730:p.Arg672Cys		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R672C	ENST00000355537.3	37	c.2014	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918825	0.52546	.	.	ENSG00000198597	ENST00000355537	T	0.09911	2.93	5.42	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.19565	0.0470	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.03306	-1.1050	10	0.35671	T	0.21	-21.8718	15.5106	0.75779	0.1389:0.8611:0.0:0.0	.	672;672	A7E228;O15090	.;ZN536_HUMAN	C	672	ENSP00000347730:R672C	ENSP00000347730:R672C	R	+	1	0	ZNF536	35628323	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.532000	0.60608	2.509000	0.84616	0.655000	0.94253	CGT	ZNF536	-	NULL	ENSG00000198597		0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2		0.00	53	0	C	NM_014717		30936483	+1			no_errors	ENST00000355537	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.998	T
ZNF507	22847	genome.wustl.edu	37	19	32843902	32843902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:32843902G>T	ENST00000311921.4	+	2	358	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	ZNF507_ENST00000355898.5_Nonsense_Mutation_p.E56*|ZNF507_ENST00000544431.1_Nonsense_Mutation_p.E56*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	56					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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CAAGATAGTGGAAAATGAAAA	0.368																																																	0													70.0	69.0	69.0					19																	32843902		2203	4300	6503	SO:0001587	stop_gained	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.166G>T	19.37:g.32843902G>T	ENSP00000312277:p.Glu56*		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E56*	ENST00000311921.4	37	c.166	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.359982	0.97502	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	.	.	.	5.5	5.5	0.81552	.	0.046487	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.7624	0.96325	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000312277:E56X	E	+	1	0	ZNF507	37535742	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.927000	0.92846	2.739000	0.93911	0.491000	0.48974	GAA	ZNF507	-	NULL	ENSG00000168813		0.368	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3		0.00	42	0	G	NM_014910		32843902	+1			no_errors	ENST00000311921	ensembl	human	known	74_37	nonsense	11.11	24	3	SNP	1.000	T
ZNF540	163255	genome.wustl.edu	37	19	38103939	38103939	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:38103939G>T	ENST00000592533.1	+	5	2090	c.1758G>T	c.(1756-1758)aaG>aaT	p.K586N	ZNF540_ENST00000343599.5_Missense_Mutation_p.K586N|ZNF540_ENST00000589117.1_Missense_Mutation_p.K554N|ZNF540_ENST00000316433.4_Missense_Mutation_p.K586N	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	586					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAGGCCTTTAGTC	0.398																																																	0													74.0	77.0	76.0					19																	38103939		2203	4300	6503	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1758G>T	19.37:g.38103939G>T	ENSP00000466274:p.Lys586Asn		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	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.K586N	ENST00000592533.1	37	c.1758	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592214	0.66219	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;T	0.27890	1.64;3.15	2.27	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52741	0.1753	M	0.84683	2.71	0.19775	N	0.99995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.46527	-0.9185	9	0.72032	D	0.01	.	7.9953	0.30265	0.7522:0.0:0.2478:0.0	.	554;586	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	N	586;554	ENSP00000324598:K586N;ENSP00000343768:K554N	ENSP00000324598:K586N	K	+	3	2	ZNF540	42795779	0.000000	0.05858	0.094000	0.20943	0.983000	0.72400	-0.426000	0.07008	-0.512000	0.06505	0.305000	0.20034	AAG	ZNF540	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.398	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1		0.00	40	0	G	NM_152606		38103939	+1			no_errors	ENST00000316433	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.226	T
ZNF471	57573	genome.wustl.edu	37	19	57037094	57037094	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:57037094G>T	ENST00000308031.5	+	5	1791	c.1658G>T	c.(1657-1659)aGc>aTc	p.S553I	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	553					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAAGCCTTCAGCCAAACTTCC	0.398																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													93.0	96.0	95.0					19																	57037094		2203	4300	6503	SO:0001583	missense	0			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1658G>T	19.37:g.57037094G>T	ENSP00000309161:p.Ser553Ile		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	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.S553I	ENST00000308031.5	37	c.1658	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061841	0.36373	.	.	ENSG00000196263	ENST00000308031	T	0.05025	3.51	3.9	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13713	0.0332	L	0.56340	1.77	0.22317	N	0.999203	D	0.65815	0.995	P	0.61800	0.894	T	0.17806	-1.0357	9	0.27785	T	0.31	.	7.4468	0.27215	0.1045:0.4815:0.414:0.0	.	553	Q9BX82	ZN471_HUMAN	I	553	ENSP00000309161:S553I	ENSP00000309161:S553I	S	+	2	0	ZNF471	61728906	0.000000	0.05858	0.160000	0.22671	0.956000	0.61745	-1.073000	0.03430	0.800000	0.34041	0.462000	0.41574	AGC	ZNF471	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196263		0.398	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1		0.00	41	0	G	NM_020813		57037094	+1			no_errors	ENST00000308031	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.148	T
ZNF700	90592	genome.wustl.edu	37	19	12060418	12060418	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:12060418G>T	ENST00000254321.5	+	4	1722	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Nonsense_Mutation_p.E509*|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAAACACATGAAAAAACTCA	0.388																																																	0													63.0	66.0	65.0					19																	12060418		2203	4300	6503	SO:0001587	stop_gained	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1579G>T	19.37:g.12060418G>T	ENSP00000254321:p.Glu527*		B9EGU4	Nonsense_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.E527*	ENST00000254321.5	37	c.1579	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	18.61	3.660152	0.67586	.	.	ENSG00000196757	ENST00000254321	.	.	.	0.606	0.606	0.17559	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	5.9097	0.19020	0.0:0.5831:0.4169:0.0	.	.	.	.	X	527	.	ENSP00000254321:E527X	E	+	1	0	ZNF700	11921418	0.000000	0.05858	0.037000	0.18230	0.060000	0.15804	-1.291000	0.02775	0.577000	0.29470	0.195000	0.17529	GAA	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.388	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2		0.00	44	0	G	NM_144566		12060418	+1			no_errors	ENST00000254321	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.962	T
ZNF625	90589	genome.wustl.edu	37	19	12257038	12257038	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:12257038C>A	ENST00000355738.1	-	0	344				ZNF625_ENST00000439556.2_Splice_Site_p.G65C|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_De_novo_Start_OutOfFrame|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625						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)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CCCATAAGACCTCTGTGAACA	0.378																																																	0													64.0	64.0	64.0					19																	12257038		2194	4296	6490			0			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.-6G>T	19.37:g.12257038C>A			A4FU45|I3L0E9	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.G65C	ENST00000355738.1	37	c.193		19	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673130	0.29693	.	.	ENSG00000257591	ENST00000439556	T	0.06371	3.31	1.41	-2.18	0.07037	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.23515	N	0.997518	.	.	.	.	.	.	T	0.42137	-0.9469	6	0.34782	T	0.22	.	4.7944	0.13265	0.0:0.3898:0.0:0.6102	.	.	.	.	C	65	ENSP00000394380:G65C	ENSP00000394380:G65C	G	-	1	0	AC022415.5	12118038	0.000000	0.05858	0.005000	0.12908	0.749000	0.42624	-0.690000	0.05138	-0.585000	0.05905	0.313000	0.20887	GGT	ZNF625	-	pfscan_Krueppel-associated_box	ENSG00000257591		0.378	ZNF625-201	KNOWN	basic	protein_coding	ZNF625	HGNC	protein_coding			0.00	56	0	C	NM_145233		12257038	-1			no_errors	ENST00000439556	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.001	A
ZNF549	256051	genome.wustl.edu	37	19	58046597	58046597	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:58046597A>T	ENST00000376233.3	+	3	339	c.158A>T	c.(157-159)cAt>cTt	p.H53L	ZNF549_ENST00000602149.1_Missense_Mutation_p.H53L|ZNF549_ENST00000240719.3_Missense_Mutation_p.H40L|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	53	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)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCCTGTATCATGATGTGATG	0.502																																																	0													207.0	180.0	189.0					19																	58046597		2203	4300	6503	SO:0001583	missense	0			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.158A>T	19.37:g.58046597A>T	ENSP00000365407:p.His53Leu		B3KV91|O43336|Q8NAR4	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.H53L	ENST00000376233.3	37	c.158	CCDS56106.1	19	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.811176	0.00600	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.01647	4.71;4.71	2.66	-0.628	0.11537	Krueppel-associated box (4);	.	.	.	.	T	0.01061	0.0035	N	0.16233	0.39	0.09310	N	1	B;B	0.17667	0.008;0.023	B;B	0.22386	0.018;0.039	T	0.49370	-0.8947	9	0.12430	T	0.62	.	1.8387	0.03145	0.4338:0.0:0.301:0.2652	.	53;40	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	L	40;53	ENSP00000240719:H40L;ENSP00000365407:H53L	ENSP00000240719:H40L	H	+	2	0	ZNF549	62738409	0.000000	0.05858	0.000000	0.03702	0.250000	0.25880	-1.136000	0.03222	-0.125000	0.11703	0.533000	0.62120	CAT	ZNF549	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000121406		0.502	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	HGNC	protein_coding	OTTHUMT00000466780.1		0.00	83	0	A	NM_153263		58046597	+1			no_errors	ENST00000376233	ensembl	human	known	74_37	missense	45.45	42	35	SNP	0.000	T
ZNF821	55565	genome.wustl.edu	37	16	71894143	71894143	+	Silent	SNP	C	C	T			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr16:71894143C>T	ENST00000565601.1	-	7	1424	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	ZNF821_ENST00000446827.2_Silent_p.R297R|ZNF821_ENST00000425432.1_Silent_p.R339R|ZNF821_ENST00000313565.6_Silent_p.R297R|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GCCGGGCCTGCCGCTTTTCCG	0.637																																																	0													34.0	35.0	34.0					16																	71894143		2198	4300	6498	SO:0001819	synonymous_variant	0			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.1017G>A	16.37:g.71894143C>T			A6NK48|B4DKK4|D3DWS3	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R339	ENST00000565601.1	37	c.1017	CCDS56006.1	16																																																																																			ZNF821	-	NULL	ENSG00000102984		0.637	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF821	HGNC	protein_coding	OTTHUMT00000434180.1		0.00	41	0	C	NM_017530		71894143	-1			no_errors	ENST00000425432	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	T
ZNF841	284371	genome.wustl.edu	37	19	52570427	52570427	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr19:52570427C>A	ENST00000426391.2	-	5	911	c.360G>T	c.(358-360)agG>agT	p.R120S	ZNF841_ENST00000594295.1_Missense_Mutation_p.R236S|ZNF841_ENST00000389534.4_Missense_Mutation_p.R236S|ZNF841_ENST00000359973.2_Missense_Mutation_p.R120S|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCCCATATTTCCTAGAAATGT	0.338																																																	0													104.0	82.0	88.0					19																	52570427		692	1591	2283	SO:0001583	missense	0			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.360G>T	19.37:g.52570427C>A	ENSP00000415453:p.Arg120Ser		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	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.R236S	ENST00000426391.2	37	c.708		19	.	.	.	.	.	.	.	.	.	.	C	6.341	0.431059	0.12045	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.07800	3.55;3.39;3.16	1.74	-3.48	0.04739	.	.	.	.	.	T	0.01765	0.0056	N	0.01649	-0.78	0.09310	N	1	P;B;B	0.36535	0.557;0.01;0.006	B;B;B	0.28139	0.086;0.009;0.004	T	0.36407	-0.9749	9	0.29301	T	0.29	.	0.5947	0.00734	0.385:0.1799:0.2657:0.1694	.	236;120;120	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	S	236;120;120	ENSP00000374185:R236S;ENSP00000415453:R120S;ENSP00000353060:R120S	ENSP00000353060:R120S	R	-	3	2	ZNF841	57262239	0.000000	0.05858	0.000000	0.03702	0.363000	0.29612	-3.591000	0.00421	-1.299000	0.02344	-0.657000	0.03884	AGG	ZNF841	-	NULL	ENSG00000197608		0.338	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1		0.00	70	0	C	XM_209155		52570427	-1			no_errors	ENST00000389534	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	A
ZSCAN20	7579	genome.wustl.edu	37	1	33945122	33945122	+	Missense_Mutation	SNP	G	G	A	rs375588396		TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr1:33945122G>A	ENST00000361328.3	+	2	386	c.233G>A	c.(232-234)cGt>cAt	p.R78H	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Missense_Mutation_p.R78H	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	78	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCTGCTGTCGTTGGCTGAGG	0.617																																																	0								G	HIS/ARG	1,4383		0,1,2191	37.0	41.0	39.0		233	-4.7	0.7	1		39	1,8579		0,1,4289	no	missense	ZSCAN20	NM_145238.3	29	0,2,6480	AA,AG,GG		0.0117,0.0228,0.0154	benign	78/1044	33945122	2,12962	2192	4290	6482	SO:0001583	missense	0			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.233G>A	1.37:g.33945122G>A	ENSP00000355053:p.Arg78His		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R78H	ENST00000361328.3	37	c.233	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488444	0.44249	2.28E-4	1.17E-4	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413	T	0.04502	3.61	5.09	-4.65	0.03339	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.759254	0.11735	N	0.534599	T	0.07007	0.0178	M	0.71871	2.18	0.80722	D	1	B;B;B	0.11235	0.003;0.001;0.004	B;B;B	0.14578	0.005;0.005;0.011	T	0.08743	-1.0707	10	0.45353	T	0.12	-1.3392	12.343	0.55105	0.6025:0.0:0.3975:0.0	.	78;78;78	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	H	78	ENSP00000362512:R78H	ENSP00000324450:R78H	R	+	2	0	ZSCAN20	33717709	0.000000	0.05858	0.672000	0.29872	0.983000	0.72400	-0.404000	0.07205	-1.285000	0.02387	-0.140000	0.14226	CGT	ZSCAN20	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000121903		0.617	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2		0.00	17	0	G	NM_145238		33945122	+1			no_errors	ENST00000361328	ensembl	human	known	74_37	missense	50.00	9	9	SNP	0.935	A
ZSWIM8	23053	genome.wustl.edu	37	10	75557625	75557625	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U7-01A-11D-A31U-09	TCGA-LN-A5U7-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c02031c-f362-41f1-be08-d7e543439dbf	9fedbd76-aabc-4101-a17e-c1d543e1988c	g.chr10:75557625C>A	ENST00000605216.1	+	19	3951	c.3734C>A	c.(3733-3735)gCg>gAg	p.A1245E	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A1212E|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A1250E|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.A1245E|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.A1250E	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1245							zinc ion binding (GO:0008270)										TTCGAGCTGGCGAAGACAGTG	0.592																																																	0													76.0	83.0	81.0					10																	75557625		2093	4216	6309	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3734C>A	10.37:g.75557625C>A	ENSP00000474748:p.Ala1245Glu		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.A1250E	ENST00000605216.1	37	c.3749		10	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994170	0.74703	.	.	ENSG00000214655	ENST00000398706	T	0.63744	-0.06	5.74	4.83	0.62350	.	0.000000	0.64402	U	0.000005	T	0.80325	0.4602	M	0.81497	2.545	0.58432	D	0.999997	B;D;B;B	0.89917	0.317;1.0;0.317;0.317	B;D;B;B	0.87578	0.095;0.998;0.136;0.095	D	0.83764	0.0216	10	0.87932	D	0	-6.4233	16.1693	0.81790	0.1345:0.8655:0.0:0.0	.	1245;1257;1245;1250	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	K0913_HUMAN;.;.;.	E	1250	ENSP00000381693:A1250E	ENSP00000381693:A1250E	A	+	2	0	KIAA0913	75227631	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	1.426000	0.47256	0.655000	0.94253	GCG	ZSWIM8	-	NULL	ENSG00000214655		0.592	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1		0.00	26	0	C	NM_001242487		75557625	+1			no_errors	ENST00000398706	ensembl	human	known	74_37	missense	14.29	12	2	SNP	1.000	A
