#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
AACSP1	729522	genome.wustl.edu	37	5	178201530	178201530	+	RNA	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr5:178201530C>T	ENST00000503486.2	-	0	871					NR_024035.1				acetoacetyl-CoA synthetase pseudogene 1																		TGCCGAACCGCGGGGTTGAGC	0.607																																																	0																																												0					5q35	2010-09-29	2010-09-29	2010-09-29	ENSG00000250420	ENSG00000250420			18226	pseudogene	pseudogene			"""acetoacetyl-CoA synthetase-like"""	AACSL			Standard	NR_024035		Approved		uc011dgl.2		OTTHUMG00000163584		5.37:g.178201530C>T				RNA	SNP	-	NULL	ENST00000503486.2	37	NULL		5																																																																																			AACSP1	-	-	ENSG00000250420		0.607	AACSP1-002	KNOWN	basic	processed_transcript	AACSP1	HGNC	pseudogene	OTTHUMT00000374392.2	-	0.00	16	0	C	NR_024035		178201530	-1	tier1	-	no_errors	ENST00000503486	ensembl	human	known	74_37	rna	26.32	14	5	SNP	1.000	T
ACACA	31	genome.wustl.edu	37	17	35567390	35567390	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:35567390G>A	ENST00000394406.2	-	30	3777	c.3587C>T	c.(3586-3588)aCg>aTg	p.T1196M	ACACA_ENST00000360679.3_Missense_Mutation_p.T1138M|ACACA_ENST00000353139.5_Missense_Mutation_p.T1233M|ACACA_ENST00000335166.5_Missense_Mutation_p.T1118M	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1196					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)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGTTTAGCGTAGGGATGTT	0.343																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													94.0	95.0	95.0					17																	35567390		2203	4300	6503	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3587C>T	17.37:g.35567390G>A	ENSP00000377928:p.Thr1196Met		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	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,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,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.T1233M	ENST00000394406.2	37	c.3698	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240030	0.79912	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.16	6.16	0.99307	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	L	0.52573	1.65	0.80722	D	1	D;B;B	0.89917	1.0;0.269;0.405	D;B;B	0.85130	0.997;0.041;0.058	T	0.55891	-0.8069	10	0.46703	T	0.11	-13.1869	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1233;1196;1138	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	M	1233;1138;1196;1220;1118	ENSP00000344789:T1233M;ENSP00000353898:T1138M;ENSP00000377928:T1196M;ENSP00000335323:T1118M	ENSP00000335323:T1118M	T	-	2	0	ACACA	32641503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	ACG	ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.343	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0.00	41	0	G	NM_198836		35567390	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	48.08	27	25	SNP	1.000	A
ABCC3	8714	genome.wustl.edu	37	17	48745338	48745338	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:48745338A>G	ENST00000285238.8	+	13	1830	c.1750A>G	c.(1750-1752)Atg>Gtg	p.M584V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	584	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCCCCTCAACATGCTGCCCCA	0.537																																																	0													169.0	145.0	153.0					17																	48745338		2203	4300	6503	SO:0001583	missense	0			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1750A>G	17.37:g.48745338A>G	ENSP00000285238:p.Met584Val		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.M584V	ENST00000285238.8	37	c.1750	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	A	9.100	1.003976	0.19199	.	.	ENSG00000108846	ENST00000285238	T	0.28666	1.6	4.32	-2.44	0.06502	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.098165	0.64402	D	0.000003	T	0.22704	0.0548	L	0.60012	1.86	0.47341	D	0.999394	B	0.14012	0.009	B	0.11329	0.006	T	0.03608	-1.1020	10	0.72032	D	0.01	-13.86	4.3236	0.11029	0.4709:0.3481:0.0686:0.1124	.	584	O15438	MRP3_HUMAN	V	584	ENSP00000285238:M584V	ENSP00000285238:M584V	M	+	1	0	ABCC3	46100337	1.000000	0.71417	0.100000	0.21137	0.335000	0.28730	2.068000	0.41471	-0.351000	0.08249	-0.438000	0.05819	ATG	ABCC3	-	superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000108846		0.537	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	-	0.00	22	0	A	NM_020038		48745338	+1	tier1	-	no_errors	ENST00000285238	ensembl	human	known	74_37	missense	48.39	16	15	SNP	0.893	G
ADCY1	107	genome.wustl.edu	37	7	45614663	45614664	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:45614663_45614664insT	ENST00000297323.7	+	1	543_544	c.521_522insT	c.(520-525)tatgccfs	p.A175fs	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	175					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTCGTGTCCTATGCCTTGCTGC	0.708																																																	0																																										SO:0001589	frameshift_variant	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.522dupT	7.37:g.45614664_45614664dupT	ENSP00000297323:p.Ala175fs		A4D2L8|Q75MI1	Frame_Shift_Ins	INS	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A175fs	ENST00000297323.7	37	c.521_522	CCDS34631.1	7																																																																																			ADCY1	-	NULL	ENSG00000164742		0.708	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2		0.00	38	0	-	NM_021116		45614664	+1	tier1		no_errors	ENST00000297323	ensembl	human	known	74_37	frame_shift_ins	25.00	57	19	INS	1.000:0.998	T
AGPAT9	84803	genome.wustl.edu	37	4	84457661	84457661	+	5'UTR	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr4:84457661G>A	ENST00000395226.2	+	0	104				AGPAT9_ENST00000264409.4_5'UTR	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9						CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TCGCAGAGGTGAGTGCCGGGC	0.617																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.-115G>A	4.37:g.84457661G>A			Q68CJ4|Q6GPI6|Q96NA3	RNA	SNP	-	NULL	ENST00000395226.2	37	NULL	CCDS3606.1	4																																																																																			AGPAT9	-	-	ENSG00000138678		0.617	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT9	HGNC	protein_coding	OTTHUMT00000252821.3	-	0.00	17	0	G	NM_032717		84457661	+1	tier1	-	no_errors	ENST00000506766	ensembl	human	putative	74_37	rna	76.47	4	13	SNP	0.629	A
AHNAK	79026	genome.wustl.edu	37	11	62292799	62292799	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:62292799G>A	ENST00000378024.4	-	5	9364	c.9090C>T	c.(9088-9090)ttC>ttT	p.F3030F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3030					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGCATGCTGAATTTGGGCA	0.532																																																	0													197.0	205.0	203.0					11																	62292799		2202	4299	6501	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9090C>T	11.37:g.62292799G>A			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F3030	ENST00000378024.4	37	c.9090	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0.00	98	0	G	NM_024060		62292799	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	silent	24.32	84	27	SNP	1.000	A
AJUBA	84962	genome.wustl.edu	37	14	23450545	23450545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr14:23450545C>A	ENST00000262713.2	-	1	1306	c.931G>T	c.(931-933)Gag>Tag	p.E311*	RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.E311*|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	311	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CCTGGTGGCTCCTCCAGACCC	0.672																																																	0													22.0	28.0	26.0					14																	23450545		2194	4295	6489	SO:0001587	stop_gained	0			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.931G>T	14.37:g.23450545C>A	ENSP00000262713:p.Glu311*		A8MX18|D3DS37	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E311*	ENST00000262713.2	37	c.931	CCDS9581.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.796790|5.796790	0.96952|0.96952	.|.	.|.	ENSG00000129474|ENSG00000129474	ENST00000262713;ENST00000361265|ENST00000553736	.|.	.|.	.|.	5.25|5.25	4.3|4.3	0.51218|0.51218	.|.	0.371268|.	0.23065|.	N|.	0.052338|.	.|T	.|0.53094	.|0.1775	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61907	.|-0.6966	.|3	0.08599|.	T|.	0.76|.	.|.	10.3046|10.3046	0.43672|0.43672	0.1966:0.8034:0.0:0.0|0.1966:0.8034:0.0:0.0	.|.	.|.	.|.	.|.	X|V	311|84	.|.	ENSP00000262713:E311X|.	E|G	-|-	1|2	0|0	JUB|JUB	22520385|22520385	0.921000|0.921000	0.31238|0.31238	0.997000|0.997000	0.53966|0.53966	0.729000|0.729000	0.41735|0.41735	1.759000|1.759000	0.38420|0.38420	2.436000|2.436000	0.82500|0.82500	0.655000|0.655000	0.94253|0.94253	GAG|GGA	AJUBA	-	NULL	ENSG00000129474		0.672	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AJUBA	HGNC	protein_coding	OTTHUMT00000071685.2	-	0.00	11	0	C			23450545	-1	tier1	-	no_errors	ENST00000262713	ensembl	human	known	74_37	nonsense	87.50	2	14	SNP	1.000	A
AKAP13	11214	genome.wustl.edu	37	15	86076844	86076844	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:86076844C>A	ENST00000394518.2	+	4	306	c.211C>A	c.(211-213)Cag>Aag	p.Q71K	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q71K|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q71K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	71					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTGAAGGTGCAGCTCTGTGC	0.473																																					Melanoma(94;603 1453 3280 32295 32951)												0													142.0	126.0	131.0					15																	86076844		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.211C>A	15.37:g.86076844C>A	ENSP00000378026:p.Gln71Lys		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.Q71K	ENST00000394518.2	37	c.211	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678737	0.47886	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.59083	0.29;0.29	5.67	5.67	0.87782	.	.	.	.	.	T	0.34745	0.0908	N	0.08118	0	0.80722	D	1	B;B;B	0.31625	0.18;0.274;0.332	B;B;B	0.29598	0.043;0.093;0.104	T	0.26780	-1.0093	9	0.46703	T	0.11	.	8.8119	0.34971	0.0:0.7568:0.1631:0.0801	.	71;71;71	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	K	71;71;70;70	ENSP00000354718:Q71K;ENSP00000378026:Q71K	ENSP00000354718:Q71K	Q	+	1	0	AKAP13	83877848	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.890000	0.39728	2.828000	0.97474	0.655000	0.94253	CAG	AKAP13	-	NULL	ENSG00000170776		0.473	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0.00	71	0	C	NM_007200		86076844	+1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	A
ALG1	56052	genome.wustl.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:5129756A>G	ENST00000262374.5	+	9	940	c.909A>G	c.(907-909)gaA>gaG	p.E303E	ALG1_ENST00000544428.1_Silent_p.E192E|ALG1_ENST00000588623.1_Silent_p.E192E	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443																																																	3	Substitution - coding silent(3)	lung(2)|urinary_tract(1)											89.0	85.0	87.0					16																	5129756		2197	4300	6497	SO:0001819	synonymous_variant	0			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.909A>G	16.37:g.5129756A>G			B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	pfam_Glyco_trans_1	p.E303	ENST00000262374.5	37	c.909	CCDS10528.1	16																																																																																			ALG1	-	pfam_Glyco_trans_1	ENSG00000033011		0.443	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2		0.00	47	0	A	NM_019109		5129756	+1			no_errors	ENST00000262374	ensembl	human	known	74_37	silent	9.38	56	6	SNP	0.355	G
ALPK2	115701	genome.wustl.edu	37	18	56247529	56247529	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr18:56247529G>A	ENST00000361673.3	-	4	692	c.479C>T	c.(478-480)tCa>tTa	p.S160L	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	160						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGTCAGCTGACCTGGGAGT	0.473																																																	0													212.0	217.0	215.0					18																	56247529		2152	4271	6423	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.479C>T	18.37:g.56247529G>A	ENSP00000354991:p.Ser160Leu		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.S160L	ENST00000361673.3	37	c.479	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170163	0.38315	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	5.9	4.85	0.62838	.	.	.	.	.	T	0.36826	0.0981	L	0.44542	1.39	0.09310	N	1	B	0.22276	0.067	B	0.18263	0.021	T	0.22941	-1.0202	9	0.87932	D	0	0.3373	11.3695	0.49692	0.1393:0.0:0.8607:0.0	.	160	Q86TB3	ALPK2_HUMAN	L	160	ENSP00000354991:S160L	ENSP00000354991:S160L	S	-	2	0	ALPK2	54398509	0.085000	0.21516	0.007000	0.13788	0.118000	0.20060	3.019000	0.49635	2.786000	0.95864	0.563000	0.77884	TCA	ALPK2	-	NULL	ENSG00000198796		0.473	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0.00	106	0	G	NM_052947		56247529	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	missense	32.50	81	39	SNP	0.001	A
ANO5	203859	genome.wustl.edu	37	11	22294478	22294478	+	Silent	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:22294478C>T	ENST00000324559.8	+	19	2495	c.2178C>T	c.(2176-2178)agC>agT	p.S726S	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	726					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGCTCATAGCATAGGTGTTT	0.398																																																	0													160.0	153.0	156.0					11																	22294478		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2178C>T	11.37:g.22294478C>T				Silent	SNP	pfam_Anoctamin	p.S726	ENST00000324559.8	37	c.2178	CCDS31444.1	11																																																																																			ANO5	-	pfam_Anoctamin	ENSG00000171714		0.398	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	-	0.00	48	0	C	NM_213599		22294478	+1	tier1	-	no_errors	ENST00000324559	ensembl	human	known	74_37	silent	24.07	41	13	SNP	1.000	T
ARID4A	5926	genome.wustl.edu	37	14	58831580	58831580	+	Silent	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr14:58831580C>T	ENST00000355431.3	+	20	3146	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L	ARID4A_ENST00000348476.3_Silent_p.L925L|ARID4A_ENST00000395168.3_Silent_p.L925L|ARID4A_ENST00000431317.2_Silent_p.L925L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	925					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATCCAACAACTGACTAGTGA	0.383																																																	0													65.0	65.0	65.0					14																	58831580		2203	4300	6503	SO:0001819	synonymous_variant	0			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2773C>T	14.37:g.58831580C>T			Q15991|Q15992|Q15993	Silent	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.L925	ENST00000355431.3	37	c.2773	CCDS9732.1	14																																																																																			ARID4A	-	NULL	ENSG00000032219		0.383	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	-	0.00	22	0	C	NM_023001		58831580	+1	tier1	-	no_errors	ENST00000355431	ensembl	human	known	74_37	silent	83.33	3	15	SNP	0.000	T
ARL5A	26225	genome.wustl.edu	37	2	152684695	152684695	+	5'UTR	SNP	G	G	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:152684695G>C	ENST00000295087.8	-	0	307				ARL5A_ENST00000428992.2_Intron|ARL5A_ENST00000487723.1_5'UTR	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A						small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		TCCCATTCTCGGGCAGCGGAC	0.667																																																	0													21.0	25.0	24.0					2																	152684695		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.-5C>G	2.37:g.152684695G>C			Q580I5	RNA	SNP	-	NULL	ENST00000295087.8	37	NULL	CCDS2195.1	2																																																																																			ARL5A	-	-	ENSG00000162980		0.667	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5A	HGNC	protein_coding	OTTHUMT00000254837.1	-	0.00	23	0	G			152684695	-1	tier1	-	no_errors	ENST00000487723	ensembl	human	putative	74_37	rna	45.71	38	32	SNP	1.000	C
BNIP2	663	genome.wustl.edu	37	15	59956127	59956127	+	3'UTR	SNP	T	T	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:59956127T>C	ENST00000607373.1	-	0	1288				BNIP2_ENST00000415213.2_3'UTR|BNIP2_ENST00000267859.3_3'UTR|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000478981.1_5'UTR	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2						apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCTTGTATAATACAAAAGTCC	0.308																																					Ovarian(174;1936 1978 6671 8240 38212)												0																																										SO:0001624	3_prime_UTR_variant	0			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.*141A>G	15.37:g.59956127T>C			B4DS94	RNA	SNP	-	NULL	ENST00000607373.1	37	NULL		15																																																																																			BNIP2	-	-	ENSG00000140299		0.308	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	BNIP2	HGNC	protein_coding	OTTHUMT00000470740.1	-	0.00	24	0	T	NM_004330		59956127	-1	tier1	-	no_errors	ENST00000478981	ensembl	human	known	74_37	rna	51.85	13	14	SNP	0.995	C
BRAF	673	genome.wustl.edu	37	7	140501216	140501216	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:140501216G>C	ENST00000288602.6	-	6	916	c.856C>G	c.(856-858)Ctt>Gtt	p.L286V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	286					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ACTTACTCAAGTTGGTCATAA	0.353		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													70.0	67.0	68.0					7																	140501216		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.856C>G	7.37:g.140501216G>C	ENSP00000288602:p.Leu286Val		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.L286V	ENST00000288602.6	37	c.856	CCDS5863.1	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163166	0.78226	.	.	ENSG00000157764	ENST00000288602	T	0.75367	-0.93	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	L	0.28274	0.84	0.80722	D	1	P	0.39831	0.69	B	0.33454	0.164	T	0.60250	-0.7300	10	0.16896	T	0.51	.	19.3383	0.94329	0.0:0.0:1.0:0.0	.	286	P15056	BRAF_HUMAN	V	286	ENSP00000288602:L286V	ENSP00000288602:L286V	L	-	1	0	BRAF	140147685	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.786000	0.99046	2.569000	0.86673	0.655000	0.94253	CTT	BRAF	-	NULL	ENSG00000157764		0.353	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	-	0.00	27	0	G	NM_004333		140501216	-1	tier1	-	no_errors	ENST00000288602	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	C
BTN1A1	696	genome.wustl.edu	37	6	26505212	26505212	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr6:26505212G>T	ENST00000244513.6	+	3	553	c.487G>T	c.(487-489)Gag>Tag	p.E163*		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	163	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AATCTGTCTGGAGTGCACCTC	0.502																																																	0													78.0	76.0	76.0					6																	26505212		2203	4300	6503	SO:0001587	stop_gained	0			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.487G>T	6.37:g.26505212G>T	ENSP00000244513:p.Glu163*		Q4VAN3|Q4VAN4|Q9H458	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.E163*	ENST00000244513.6	37	c.487	CCDS4614.1	6	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786970	0.70337	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	.	.	.	5.63	2.47	0.30058	.	0.359835	0.24024	N	0.042247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	6.2721	0.20961	0.119:0.3369:0.544:0.0	.	.	.	.	X	163	.	ENSP00000244513:E163X	E	+	1	0	BTN1A1	26613191	0.996000	0.38824	0.879000	0.34478	0.368000	0.29767	0.385000	0.20685	0.167000	0.19631	0.655000	0.94253	GAG	BTN1A1	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000124557		0.502	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	HGNC	protein_coding	OTTHUMT00000043776.1		0.00	25	0	G	NM_001732		26505212	+1			no_errors	ENST00000244513	ensembl	human	known	74_37	nonsense	9.09	20	2	SNP	0.980	T
C2CD3	26005	genome.wustl.edu	37	11	73796763	73796763	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:73796763G>T	ENST00000334126.7	-	21	4036	c.3810C>A	c.(3808-3810)aaC>aaA	p.N1270K	C2CD3_ENST00000313663.7_Missense_Mutation_p.N1270K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1270	C2 1.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAGTCACCAAGTTACATGTGA	0.498																																																	0													87.0	77.0	80.0					11																	73796763		2200	4293	6493	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3810C>A	11.37:g.73796763G>T	ENSP00000334379:p.Asn1270Lys		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.N1270K	ENST00000334126.7	37	c.3810		11	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769275	0.69992	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.39056	1.1;1.1;1.1	5.95	-0.126	0.13515	.	0.145674	0.64402	D	0.000010	T	0.49508	0.1561	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	P	0.60886	0.88	T	0.45086	-0.9285	10	0.54805	T	0.06	-5.1978	8.0264	0.30440	0.351:0.1086:0.5404:0.0	.	1270	Q4AC94-1	.	K	1270;1270;1270;78	ENSP00000334379:N1270K;ENSP00000323339:N1270K;ENSP00000388750:N78K	ENSP00000323339:N1270K	N	-	3	2	C2CD3	73474411	0.998000	0.40836	0.994000	0.49952	0.778000	0.44026	0.420000	0.21263	0.062000	0.16340	-0.345000	0.07892	AAC	C2CD3	-	superfamily_C2_dom,smart_C2_dom	ENSG00000168014		0.498	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding			0.00	23	0	G	NM_015531		73796763	-1			no_errors	ENST00000334126	ensembl	human	known	74_37	missense	11.11	31	4	SNP	0.946	T
CAD	790	genome.wustl.edu	37	2	27456369	27456369	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:27456369A>T	ENST00000403525.1	+	19	3136	c.2992A>T	c.(2992-2994)Agc>Tgc	p.S998C	CAD_ENST00000264705.4_Missense_Mutation_p.S1061C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGGTATCAGCCAGCCTCA	0.602																																																	0													42.0	44.0	43.0					2																	27456369		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2992A>T	2.37:g.27456369A>T	ENSP00000384510:p.Ser998Cys		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.S1061C	ENST00000403525.1	37	c.3181		2	.	.	.	.	.	.	.	.	.	.	A	28.0	4.884548	0.91814	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97186	-4.28;-4.28	6.17	6.17	0.99709	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.66847	0.927;0.947	D	0.98600	1.0658	10	0.62326	D	0.03	-1.3444	15.6462	0.77055	1.0:0.0:0.0:0.0	.	998;1061	F8VPD4;P27708	.;PYR1_HUMAN	C	1061;998	ENSP00000264705:S1061C;ENSP00000384510:S998C	ENSP00000264705:S1061C	S	+	1	0	CAD	27309873	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.776000	0.75023	2.371000	0.80710	0.533000	0.62120	AGC	CAD	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.602	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	-	0.00	25	0	A			27456369	+1	tier1	-	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	T
CALCB	797	genome.wustl.edu	37	11	15096326	15096326	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:15096326G>C	ENST00000533448.1	+	2	173	c.62G>C	c.(61-63)gGc>gCc	p.G21A	CALCB_ENST00000324229.6_Missense_Mutation_p.G21A|CALCB_ENST00000523376.1_Missense_Mutation_p.G32A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	21					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TACCAGGCGGGCAGCCTCCAG	0.602											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63.0	63.0	63.0					11																	15096326		2200	4294	6494	SO:0001583	missense	0				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.62G>C	11.37:g.15096326G>C	ENSP00000433490:p.Gly21Ala	700	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.G21A	ENST00000533448.1	37	c.62	CCDS7820.1	11	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287326	0.23478	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.22134	1.97;1.97;1.97	5.39	0.73	0.18271	.	0.504521	0.18619	N	0.135938	T	0.21022	0.0506	M	0.83953	2.67	0.26725	N	0.970708	P	0.43578	0.811	B	0.40602	0.334	T	0.18335	-1.0340	10	0.42905	T	0.14	-7.7768	0.4437	0.00490	0.2594:0.1988:0.339:0.2029	.	21	P10092	CALCB_HUMAN	A	32;21;21	ENSP00000428882:G32A;ENSP00000346017:G21A;ENSP00000433490:G21A	ENSP00000346017:G21A	G	+	2	0	CALCB	15052902	1.000000	0.71417	0.471000	0.27229	0.056000	0.15407	3.111000	0.50360	0.328000	0.23435	-0.175000	0.13238	GGC	CALCB	-	pfam_Procalcitonin/adrenomedullin	ENSG00000175868		0.602	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	HGNC	protein_coding	OTTHUMT00000387433.1	-	0.00	37	0	G	NM_000728		15096326	+1	tier1	-	no_errors	ENST00000324229	ensembl	human	known	74_37	missense	34.09	29	15	SNP	1.000	C
CATSPER2	117155	genome.wustl.edu	37	15	43931876	43931876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:43931876G>A	ENST00000321596.5	-	6	881	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000381761.1_Nonsense_Mutation_p.Q234*|CATSPER2_ENST00000354127.4_Nonsense_Mutation_p.Q228*|CATSPER2_ENST00000355438.2_Nonsense_Mutation_p.Q228*|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_Nonsense_Mutation_p.Q228*			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	228					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATAATAATTTGAATTTGACGG	0.478																																																	0													120.0	134.0	129.0					15																	43931876		2199	4297	6496	SO:0001587	stop_gained	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.682C>T	15.37:g.43931876G>A	ENSP00000321463:p.Gln228*		Q8NHT9|Q96P54|Q96P55	Nonsense_Mutation	SNP	pfam_Ion_trans_dom	p.Q228*	ENST00000321596.5	37	c.682	CCDS10099.1	15	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796312	0.50208	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	.	.	.	3.89	2.93	0.34026	.	0.284169	0.22592	N	0.058062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	8.5118	0.33222	0.0:0.0:0.7572:0.2428	.	.	.	.	X	228;228;234;228;228;228	.	ENSP00000299989:Q228X	Q	-	1	0	CATSPER2	41719168	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	2.346000	0.44027	0.913000	0.36797	0.184000	0.17185	CAA	CATSPER2	-	pfam_Ion_trans_dom	ENSG00000166762		0.478	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	-	0.00	41	0	G	NM_054020		43931876	-1	tier1	-	no_errors	ENST00000321596	ensembl	human	known	74_37	nonsense	23.68	29	9	SNP	1.000	A
CCDC155	147872	genome.wustl.edu	37	19	49910924	49910924	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:49910924C>T	ENST00000447857.3	+	12	1194	c.989C>T	c.(988-990)aCg>aTg	p.T330M		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	330						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AGAGTGACGACGCAGGTAACT	0.597																																																	0													39.0	45.0	43.0					19																	49910924		2061	4198	6259	SO:0001583	missense	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.989C>T	19.37:g.49910924C>T	ENSP00000404220:p.Thr330Met		Q96MC3	Missense_Mutation	SNP	NULL	p.T330M	ENST00000447857.3	37	c.989	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	c	11.97	1.796957	0.31777	.	.	ENSG00000161609	ENST00000447857	T	0.34275	1.37	4.83	2.68	0.31781	.	0.434080	0.22628	N	0.057615	T	0.43853	0.1266	M	0.75447	2.3	0.09310	N	0.999994	P;D	0.54397	0.847;0.966	B;P	0.51170	0.188;0.661	T	0.28808	-1.0032	10	0.51188	T	0.08	-8.5529	6.9329	0.24451	0.0:0.7957:0.0:0.2043	.	330;330	C9JGW3;Q8N6L0	.;CC155_HUMAN	M	330	ENSP00000404220:T330M	ENSP00000404220:T330M	T	+	2	0	CCDC155	54602736	0.084000	0.21492	0.159000	0.22649	0.008000	0.06430	1.273000	0.33121	1.356000	0.45884	0.645000	0.84053	ACG	CCDC155	-	NULL	ENSG00000161609		0.597	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	-	0.00	29	0	C	NM_144688		49910924	+1	tier1	-	no_errors	ENST00000447857	ensembl	human	known	74_37	missense	25.53	35	12	SNP	0.282	T
CCT6P3	643180	genome.wustl.edu	37	7	64530858	64530858	+	RNA	SNP	T	T	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:64530858T>C	ENST00000426828.1	+	0	1090				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		ATGCTGTTGATGATGGTAAGA	0.383																																																	0																																												0					7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64530858T>C				RNA	SNP	-	NULL	ENST00000426828.1	37	NULL		7																																																																																			CCT6P3	-	-	ENSG00000234585		0.383	CCT6P3-004	KNOWN	basic	processed_transcript	CCT6P3	HGNC	pseudogene	OTTHUMT00000344862.1	-	0.00	59	0	T			64530858	+1	tier1	-	no_errors	ENST00000426828	ensembl	human	known	74_37	rna	41.90	61	44	SNP	1.000	C
CDC73	79577	genome.wustl.edu	37	1	193107230	193107230	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:193107230C>A	ENST00000367435.3	+	6	623	c.439C>A	c.(439-441)Cgc>Agc	p.R147S	MIR1278_ENST00000408753.1_RNA	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	147					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R147C(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGAGTGTGTGCGCCTTGATAA	0.363																																																	1	Substitution - Missense(1)	breast(1)											142.0	142.0	142.0					1																	193107230		2203	4300	6503	SO:0001583	missense	0			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.439C>A	1.37:g.193107230C>A	ENSP00000356405:p.Arg147Ser		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.R147S	ENST00000367435.3	37	c.439	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710401	0.68730	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.85556	-2.0	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.82600	0.5072	L	0.50333	1.59	0.80722	D	1	P	0.38617	0.64	B	0.34652	0.187	T	0.83247	-0.0055	10	0.49607	T	0.09	-6.023	19.5043	0.95108	0.0:1.0:0.0:0.0	.	147	Q6P1J9	CDC73_HUMAN	S	147	ENSP00000356405:R147S	ENSP00000356405:R147S	R	+	1	0	CDC73	191373853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.452000	0.80683	2.610000	0.88304	0.591000	0.81541	CGC	CDC73	-	NULL	ENSG00000134371		0.363	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2		0.00	21	0	C	NM_024529		193107230	+1			no_errors	ENST00000367435	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A
CEACAM18	729767	genome.wustl.edu	37	19	51981881	51981881	+	5'UTR	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:51981881G>A	ENST00000396477.4	+	0	6				CEACAM18_ENST00000451626.1_Silent_p.E56E	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCTCCTGGAGGACCCCAGGC	0.617																																																	0													31.0	35.0	34.0					19																	51981881		1967	4142	6109	SO:0001623	5_prime_UTR_variant	0					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.-16G>A	19.37:g.51981881G>A			C9JN24	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E56	ENST00000396477.4	37	c.168		19																																																																																			CEACAM18	-	NULL	ENSG00000213822		0.617	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0.00	30	0	G			51981881	+1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	silent	52.00	24	26	SNP	0.002	A
CELF2	10659	genome.wustl.edu	37	10	11299729	11299729	+	Silent	SNP	A	A	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:11299729A>C	ENST00000379261.4	+	5	503	c.411A>C	c.(409-411)ggA>ggC	p.G137G	CELF2_ENST00000427450.1_Silent_p.G113G|CELF2_ENST00000354440.2_Silent_p.G113G|CELF2_ENST00000537122.1_Silent_p.G26G|CELF2_ENST00000417956.2_Silent_p.G113G|CELF2_ENST00000416382.2_Silent_p.G137G|CELF2_ENST00000354897.3_Silent_p.G113G|CELF2_ENST00000450189.1_Silent_p.G144G|CELF2_ENST00000315874.4_Silent_p.G113G|CELF2_ENST00000399850.3_Silent_p.G113G|CELF2_ENST00000608830.1_Silent_p.G113G|CELF2_ENST00000542579.1_Silent_p.G144G|CELF2_ENST00000609692.1_Silent_p.G113G	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	137	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TGTTCATAGGAATGGTATCGA	0.418																																																	0													90.0	90.0	90.0					10																	11299729		1940	4146	6086	SO:0001819	synonymous_variant	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.411A>C	10.37:g.11299729A>C			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.G144	ENST00000379261.4	37	c.432	CCDS44354.1	10																																																																																			CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000048740		0.418	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		-	0.00	45	0	A			11299729	+1	tier1	-	no_errors	ENST00000450189	ensembl	human	known	74_37	silent	34.69	32	17	SNP	1.000	C
CELSR3	1951	genome.wustl.edu	37	3	48684260	48684260	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:48684260G>T	ENST00000164024.4	-	21	7511	c.7231C>A	c.(7231-7233)Ctc>Atc	p.L2411I	CELSR3_ENST00000544264.1_Missense_Mutation_p.L2416I|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2411					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L2411F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGTAAACGAGGAGAATGATA	0.607																																																	1	Substitution - Missense(1)	urinary_tract(1)											41.0	42.0	42.0					3																	48684260		2194	4286	6480	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7231C>A	3.37:g.48684260G>T	ENSP00000164024:p.Leu2411Ile		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L2416I	ENST00000164024.4	37	c.7246	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	g	5.246	0.230806	0.09969	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.08634	3.07;3.07	5.64	4.75	0.60458	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.04227	0.0117	N	0.10916	0.065	0.29262	N	0.871279	B;B	0.32409	0.035;0.37	B;B	0.30316	0.035;0.114	T	0.16541	-1.0399	9	0.02654	T	1	.	12.7892	0.57523	0.0:0.0:0.5494:0.4506	.	2411;2481	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	I	2411;2416	ENSP00000164024:L2411I;ENSP00000445694:L2416I	ENSP00000164024:L2411I	L	-	1	0	CELSR3	48659264	1.000000	0.71417	0.964000	0.40570	0.561000	0.35649	2.813000	0.48002	1.345000	0.45676	0.556000	0.70494	CTC	CELSR3	-	pfam_DUF3497	ENSG00000008300		0.607	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1		0.00	23	0	G	NM_001407		48684260	-1			no_errors	ENST00000544264	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.993	T
CHD7	55636	genome.wustl.edu	37	8	61765096	61765096	+	Silent	SNP	A	A	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:61765096A>T	ENST00000423902.2	+	30	6413	c.5934A>T	c.(5932-5934)gtA>gtT	p.V1978V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1978					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCGTGTGGTATCCACCTTTG	0.383																																																	0													56.0	51.0	52.0					8																	61765096		1846	4090	5936	SO:0001819	synonymous_variant	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5934A>T	8.37:g.61765096A>T			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V1978	ENST00000423902.2	37	c.5934	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.383	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0.00	21	0	A	XM_098762		61765096	+1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	silent	54.29	15	19	SNP	0.074	T
CHDC2	286464	genome.wustl.edu	37	X	36117945	36117945	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:36117945T>G	ENST00000313548.4	+	7	987	c.801T>G	c.(799-801)ttT>ttG	p.F267L		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	267						integral component of membrane (GO:0016021)											TGTCTAAATTTGAAGCCTGGA	0.333																																																	0													94.0	101.0	99.0					X																	36117945		2202	4299	6501	SO:0001583	missense	0			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.801T>G	X.37:g.36117945T>G	ENSP00000324767:p.Phe267Leu			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.F267L	ENST00000313548.4	37	c.801	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	T	16.12	3.032823	0.54790	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.73	5.73	0.89815	.	0.092856	0.44097	D	0.000483	T	0.65923	0.2738	M	0.71581	2.175	0.25638	N	0.986239	D	0.76494	0.999	D	0.68943	0.961	T	0.62996	-0.6735	9	0.72032	D	0.01	-27.6294	12.798	0.57569	0.0:0.0:0.0:1.0	.	267	Q8N9S7	CX059_HUMAN	L	267	.	ENSP00000324767:F267L	F	+	3	2	CXorf59	36027866	1.000000	0.71417	0.972000	0.41901	0.022000	0.10575	3.331000	0.52075	1.930000	0.55929	0.412000	0.27726	TTT	CHDC2	-	NULL	ENSG00000176034		0.333	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDC2	HGNC	protein_coding		-	0.00	23	0	T	NM_173695		36117945	+1	tier1	-	no_errors	ENST00000313548	ensembl	human	known	74_37	missense	87.50	3	21	SNP	1.000	G
CHRM2	1129	genome.wustl.edu	37	7	136700063	136700063	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:136700063T>A	ENST00000445907.2	+	3	979	c.451T>A	c.(451-453)Tct>Act	p.S151T	hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S151T|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S151T|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S151T|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S151T|CHRM2_ENST00000401861.1_Missense_Mutation_p.S151T	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	151					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTGGGTCCTCTCTTTCATCCT	0.498																																																	0													67.0	69.0	68.0					7																	136700063		2203	4300	6503	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.451T>A	7.37:g.136700063T>A	ENSP00000399745:p.Ser151Thr		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.S151T	ENST00000445907.2	37	c.451	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041975	0.75732	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80625	-0.1299	10	0.87932	D	0	-1.8013	15.8773	0.79173	0.0:0.0:0.0:1.0	.	151	P08172	ACM2_HUMAN	T	151	ENSP00000399745:S151T;ENSP00000415386:S151T;ENSP00000319984:S151T;ENSP00000380733:S151T;ENSP00000384937:S151T;ENSP00000384401:S151T	ENSP00000319984:S151T	S	+	1	0	CHRM2	136350603	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.991000	0.88244	2.149000	0.67028	0.533000	0.62120	TCT	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181072		0.498	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0.00	20	0	T			136700063	+1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	A
CIITA	4261	genome.wustl.edu	37	16	11001871	11001871	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:11001871C>T	ENST00000324288.8	+	11	2655	c.2522C>T	c.(2521-2523)aCg>aTg	p.T841M	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	841					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACCCGCCTCACGCCTCCTGAT	0.657			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													25.0	28.0	27.0					16																	11001871		2196	4300	6496	SO:0001583	missense	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2522C>T	16.37:g.11001871C>T	ENSP00000316328:p.Thr841Met		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.T841M	ENST00000324288.8	37	c.2522	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305246	0.23736	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.57595	0.39	5.0	4.05	0.47172	.	0.115810	0.38897	N	0.001524	T	0.68641	0.3023	M	0.65498	2.005	0.24542	N	0.99406	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.971;0.978;0.987;0.998	T	0.62015	-0.6943	10	0.62326	D	0.03	.	12.3618	0.55207	0.0:0.9174:0.0:0.0826	.	841;841;793;841	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	M	841;793	ENSP00000316328:T841M	ENSP00000316328:T841M	T	+	2	0	CIITA	10909372	0.004000	0.15560	0.423000	0.26634	0.001000	0.01503	1.409000	0.34680	1.108000	0.41662	-0.119000	0.15052	ACG	CIITA	-	prints_MHC_II_transact	ENSG00000179583		0.657	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	-	0.00	41	0	C	NM_000246		11001871	+1	tier1	-	no_errors	ENST00000324288	ensembl	human	known	74_37	missense	22.73	51	15	SNP	0.109	T
CNTNAP5	129684	genome.wustl.edu	37	2	124999946	124999946	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:124999946G>T	ENST00000431078.1	+	3	721	c.357G>T	c.(355-357)caG>caT	p.Q119H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	119	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTGGAAACAGTACAAACAAG	0.448																																																	0													84.0	86.0	85.0					2																	124999946		2028	4203	6231	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.357G>T	2.37:g.124999946G>T	ENSP00000399013:p.Gln119His		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Q119H	ENST00000431078.1	37	c.357	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986441	0.53934	.	.	ENSG00000155052	ENST00000431078	D	0.98249	-4.82	5.83	1.48	0.22813	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.282980	0.24788	N	0.035585	D	0.95076	0.8405	L	0.42487	1.325	0.42019	D	0.990975	B	0.11235	0.004	B	0.15052	0.012	D	0.90265	0.4303	10	0.52906	T	0.07	.	6.2201	0.20677	0.2684:0.0:0.5965:0.1352	.	119	Q8WYK1	CNTP5_HUMAN	H	119	ENSP00000399013:Q119H	ENSP00000399013:Q119H	Q	+	3	2	CNTNAP5	124716416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.939000	0.40213	0.377000	0.24735	0.650000	0.86243	CAG	CNTNAP5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000155052		0.448	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0.00	28	0	G			124999946	+1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113277651	113277651	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:113277651G>T	ENST00000297405.5	-	60	9921	c.9677C>A	c.(9676-9678)cCa>cAa	p.P3226Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P3156Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3057Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3186Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3226	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTACAAGTTGGCATTACTCC	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													145.0	131.0	136.0					8																	113277651		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9677C>A	8.37:g.113277651G>T	ENSP00000297405:p.Pro3226Gln		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P3226Q	ENST00000297405.5	37	c.9677	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950010	0.73787	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.44	5.44	0.79542	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.94228	0.8147	H	0.99770	4.765	0.80722	D	1	D;D;B	0.89917	1.0;0.987;0.451	D;D;B	0.97110	1.0;0.976;0.212	D	0.96583	0.9432	10	0.72032	D	0.01	.	19.611	0.95606	0.0:0.0:1.0:0.0	.	3057;3226;3186	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	3186;3226;2496;3057;3156	ENSP00000345799:P3186Q;ENSP00000297405:P3226Q;ENSP00000341558:P2496Q;ENSP00000412263:P3057Q;ENSP00000343124:P3156Q	ENSP00000297405:P3226Q	P	-	2	0	CSMD3	113346827	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	9.813000	0.99286	2.714000	0.92807	0.585000	0.79938	CCA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0.00	23	0	G	NM_052900		113277651	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
CSPG4	1464	genome.wustl.edu	37	15	75981216	75981216	+	Silent	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:75981216C>T	ENST00000308508.5	-	3	2282	c.2190G>A	c.(2188-2190)gcG>gcA	p.A730A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	730	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTGGTGGAACGCCTGTGTGG	0.667																																																	0													48.0	48.0	48.0					15																	75981216		2197	4293	6490	SO:0001819	synonymous_variant	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2190G>A	15.37:g.75981216C>T			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.A730	ENST00000308508.5	37	c.2190	CCDS10284.1	15																																																																																			CSPG4	-	NULL	ENSG00000173546		0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	-	0.00	46	0	C	NM_001897		75981216	-1	tier1	-	no_errors	ENST00000308508	ensembl	human	known	74_37	silent	6.90	81	6	SNP	0.378	T
CYP2C9	1559	genome.wustl.edu	37	10	96702021	96702021	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:96702021G>T	ENST00000260682.6	+	3	416	c.404G>T	c.(403-405)gGg>gTg	p.G135V	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	135					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CGGAATTTTGGGATGGGGAAG	0.498																																					Ovarian(54;1266 1406 16072 35076)												0													138.0	130.0	133.0					10																	96702021		2203	4298	6501	SO:0001583	missense	0			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.404G>T	10.37:g.96702021G>T	ENSP00000260682:p.Gly135Val		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G135V	ENST00000260682.6	37	c.404	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	20.4	3.983910	0.74474	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.12672	2.66	3.54	3.54	0.40534	.	0.000000	0.64402	U	0.000001	T	0.46983	0.1421	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.62676	-0.6804	10	0.87932	D	0	.	12.9354	0.58311	0.0:0.0:1.0:0.0	.	135;135;135	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	V	135	ENSP00000260682:G135V	ENSP00000260682:G135V	G	+	2	0	CYP2C9	96692011	1.000000	0.71417	0.976000	0.42696	0.957000	0.61999	8.053000	0.89449	1.950000	0.56595	0.484000	0.47621	GGG	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000138109		0.498	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	-	0.00	84	0	G	NM_000771		96702021	+1	tier1	-	no_errors	ENST00000260682	ensembl	human	known	74_37	missense	22.22	70	20	SNP	1.000	T
DCAF12	25853	genome.wustl.edu	37	9	34093300	34093301	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr9:34093300_34093301GG>TA	ENST00000361264.4	-	7	1348_1349	c.1007_1008CC>TA	c.(1006-1008)tCC>tTA	p.S336L	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	336					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTCGCTCCCTGGAACAGACAGA	0.505																																																	0																																										SO:0001583	missense	0			AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.1007_1008delinsTA	9.37:g.34093300_34093301delinsTA	ENSP00000355114:p.Ser336Leu		A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Silent|Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S336|p.S336F	ENST00000361264.4	37	c.1008|c.1007	CCDS6549.1	9																																																																																			DCAF12	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198876		0.505	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12	HGNC	protein_coding	OTTHUMT00000052133.2	-	0.00	57|58	0	G	NM_015397		34093300|34093301	-1	tier1	-	no_errors	ENST00000361264	ensembl	human	known	74_37	silent|missense	27.54	50	19	SNP	1.000	T|A
DCAF4L2	138009	genome.wustl.edu	37	8	88885726	88885726	+	Silent	SNP	C	C	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:88885726C>G	ENST00000319675.3	-	1	570	c.474G>C	c.(472-474)ctG>ctC	p.L158L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	158										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACGCTGGGAGCAGCACGGCAC	0.567																																																	0													101.0	93.0	96.0					8																	88885726		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.474G>C	8.37:g.88885726C>G				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L158	ENST00000319675.3	37	c.474	CCDS6245.1	8																																																																																			DCAF4L2	-	superfamily_WD40_repeat_dom	ENSG00000176566		0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	-	0.00	28	0	C	NM_152418		88885726	-1	tier1	-	no_errors	ENST00000319675	ensembl	human	known	74_37	silent	44.44	25	20	SNP	0.913	G
DGKI	9162	genome.wustl.edu	37	7	137374664	137374664	+	Silent	SNP	C	C	T	rs565718008		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:137374664C>T	ENST00000288490.5	-	2	486	c.486G>A	c.(484-486)gaG>gaA	p.E162E	DGKI_ENST00000453654.2_Intron|DGKI_ENST00000446122.1_Silent_p.E162E|DGKI_ENST00000424189.2_Silent_p.E162E	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	162					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCGCTCTGGGCTCCTTGGCTG	0.512																																																	0													76.0	70.0	72.0					7																	137374664		2203	4300	6503	SO:0001819	synonymous_variant	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.486G>A	7.37:g.137374664C>T			A4D1Q9|Q9NZ49	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E162	ENST00000288490.5	37	c.486	CCDS5845.1	7																																																																																			DGKI	-	NULL	ENSG00000157680		0.512	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0.00	12	0	C	NM_004717		137374664	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	silent	18.75	26	6	SNP	1.000	T
DMRT2	10655	genome.wustl.edu	37	9	1056731	1056731	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr9:1056731C>G	ENST00000358146.2	+	3	1144	c.1144C>G	c.(1144-1146)Cga>Gga	p.R382G	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.R382G|DMRT2_ENST00000302441.6_Missense_Mutation_p.R382G|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	382					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		GAAGGGAGCACGAGTCCAGGA	0.572																																																	0													90.0	86.0	87.0					9																	1056731		2203	4300	6503	SO:0001583	missense	0			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1144C>G	9.37:g.1056731C>G	ENSP00000350865:p.Arg382Gly		B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.R382G	ENST00000358146.2	37	c.1144	CCDS6444.1	9	.	.	.	.	.	.	.	.	.	.	C	6.443	0.449866	0.12223	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.23950	1.88;1.88;1.88	5.78	2.9	0.33743	.	1.034030	0.07594	N	0.922499	T	0.22282	0.0537	N	0.22421	0.69	0.09310	N	1	B;B	0.28055	0.199;0.151	B;B	0.29176	0.099;0.065	T	0.36114	-0.9761	10	0.37606	T	0.19	-3.0017	14.8842	0.70555	0.3755:0.6245:0.0:0.0	.	382;226	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	G	382	ENSP00000371686:R382G;ENSP00000305785:R382G;ENSP00000350865:R382G	ENSP00000305785:R382G	R	+	1	2	DMRT2	1046731	0.037000	0.19845	0.007000	0.13788	0.538000	0.34931	2.098000	0.41757	0.349000	0.23975	-0.133000	0.14855	CGA	DMRT2	-	NULL	ENSG00000173253		0.572	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT2	HGNC	protein_coding	OTTHUMT00000051492.1	-	0.00	27	0	C	NM_006557		1056731	+1	tier1	-	no_errors	ENST00000302441	ensembl	human	known	74_37	missense	31.25	33	15	SNP	0.193	G
DRD2	1813	genome.wustl.edu	37	11	113283425	113283425	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:113283425C>G	ENST00000362072.3	-	7	1335	c.991G>C	c.(991-993)Gcc>Ccc	p.A331P	DRD2_ENST00000346454.3_Missense_Mutation_p.A302P|DRD2_ENST00000542968.1_Missense_Mutation_p.A331P|DRD2_ENST00000538967.1_Missense_Mutation_p.A333P|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Missense_Mutation_p.A333P|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000544518.1_Missense_Mutation_p.A330P	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	331	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGTCTTTGGCATGCCCATTC	0.592																																																	0													152.0	127.0	136.0					11																	113283425		2201	4296	6497	SO:0001583	missense	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.991G>C	11.37:g.113283425C>G	ENSP00000354859:p.Ala331Pro		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.A333P	ENST00000362072.3	37	c.997	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629728	0.28978	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.72725	-0.64;-0.68;-0.62;-0.66;-0.62;-0.64	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.141974	0.64402	D	0.000004	T	0.44222	0.1283	N	0.02334	-0.595	0.46521	D	0.999085	B;B;B	0.14805	0.002;0.003;0.011	B;B;B	0.21151	0.008;0.007;0.033	T	0.44190	-0.9344	10	0.24483	T	0.36	.	10.1544	0.42814	0.0:0.7916:0.1376:0.0708	.	330;302;331	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	P	333;302;331;330;331;333	ENSP00000347474:A333P;ENSP00000278597:A302P;ENSP00000354859:A331P;ENSP00000441068:A330P;ENSP00000442172:A331P;ENSP00000438215:A333P	ENSP00000278597:A302P	A	-	1	0	DRD2	112788635	0.962000	0.33011	0.998000	0.56505	0.679000	0.39708	1.581000	0.36558	2.837000	0.97791	0.655000	0.94253	GCC	DRD2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt	ENSG00000149295		0.592	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	-	0.00	110	0	C	NM_000795		113283425	-1	tier1	-	no_errors	ENST00000355319	ensembl	human	known	74_37	missense	28.49	123	49	SNP	0.970	G
DVL1	1855	genome.wustl.edu	37	1	1275451	1275451	+	Silent	SNP	G	G	A	rs560603838		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:1275451G>A	ENST00000378888.5	-	8	1160	c.876C>T	c.(874-876)gaC>gaT	p.D292D	DVL1_ENST00000378891.5_Silent_p.D292D			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	292	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGATGCGGCCGTCAGCGGCCA	0.647													g|||	1	0.000199681	0.0008	0.0	5008	,	,		9382	0.0		0.0	False		,,,				2504	0.0																0													40.0	44.0	43.0					1																	1275451		2201	4299	6500	SO:0001819	synonymous_variant	0			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.876C>T	1.37:g.1275451G>A			Q5TA33|Q5TA35	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam	p.D292	ENST00000378888.5	37	c.876		1																																																																																			DVL1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107404		0.647	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	HGNC	protein_coding	OTTHUMT00000008490.1	-	0.00	17	0	G	NM_004421		1275451	-1	tier1	-	no_errors	ENST00000378888	ensembl	human	known	74_37	silent	48.15	14	13	SNP	0.581	A
TUBB8P12	260334	genome.wustl.edu	37	18	49944	49945	+	De_novo_Start_InFrame	INS	-	-	ATGAC			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr18:49944_49945insATGAC	ENST00000573909.1	-	0	295_296				RP11-683L23.1_ENST00000308911.6_5'Flank|RP11-683L23.1_ENST00000594555.1_5'Flank																							gtcctagattgatatttttgta	0.411																																																	0																																												0																															18.37:g.49944_49945insATGAC				RNA	INS	-	NULL	ENST00000573909.1	37	NULL		18																																																																																			RP11-683L23.1	-	-	ENSG00000173213		0.411	RP11-683L23.1-002	PUTATIVE	not_best_in_genome_evidence|basic	protein_coding	ENSG00000173213	Clone_based_vega_gene	protein_coding	OTTHUMT00000439819.1		0.00	10	0	0			49945	-1			no_errors	ENST00000575325	ensembl	human	known	74_37	rna	31.25	11	5	INS	0.031:0.027	ATGAC
GS1-124K5.11	493754	genome.wustl.edu	37	7	66006407	66006407	+	lincRNA	SNP	T	T	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:66006407T>A	ENST00000449307.3	-	0	1129																											GTTGCTTCCCTGCAGGTTCTA	0.557																																																	0																																												0																															7.37:g.66006407T>A				RNA	SNP	-	NULL	ENST00000449307.3	37	NULL		7																																																																																			GS1-124K5.11	-	-	ENSG00000229180		0.557	GS1-124K5.11-001	KNOWN	basic	lincRNA	ENSG00000229180	Clone_based_vega_gene	lincRNA	OTTHUMT00000345605.3	-	0.00	33	0	T			66006407	-1	tier1	-	no_errors	ENST00000449307	ensembl	human	known	74_37	rna	47.89	37	34	SNP	0.122	A
LINC00623	728855	genome.wustl.edu	37	1	149576754	149576754	+	lincRNA	SNP	T	T	A	rs28757800		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:149576754T>A	ENST00000447883.2	-	0	397				RP11-277L2.4_ENST00000596960.1_lincRNA																							CCCAGTTCTCTGACCGCGACG	0.602																																																	0																																												0																															1.37:g.149576754T>A				RNA	SNP	-	NULL	ENST00000447883.2	37	NULL		1																																																																																			RP11-277L2.3	-	-	ENSG00000233368		0.602	RP11-277L2.3-001	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000233368	Clone_based_vega_gene	lincRNA	OTTHUMT00000039131.2	-	0.00	52	0	T			149576754	-1	tier1	-	no_errors	ENST00000447883	ensembl	human	known	74_37	rna	60.36	44	67	SNP	0.028	A
RP11-133K1.6	0	genome.wustl.edu	37	15	40605342	40605342	+	lincRNA	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:40605342G>A	ENST00000559030.1	+	0	527																											TCAGCACCACGGCCTTCTCTC	0.527																																																	0																																												0																															15.37:g.40605342G>A				RNA	SNP	-	NULL	ENST00000559030.1	37	NULL		15																																																																																			RP11-133K1.6	-	-	ENSG00000259198		0.527	RP11-133K1.6-001	KNOWN	basic	lincRNA	ENSG00000259198	Clone_based_vega_gene	lincRNA	OTTHUMT00000418442.1	-	0.00	21	0	G			40605342	+1	tier1	-	no_errors	ENST00000559030	ensembl	human	known	74_37	rna	54.17	11	13	SNP	0.998	A
EPHA10	284656	genome.wustl.edu	37	1	38185713	38185713	+	Silent	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:38185713C>A	ENST00000373048.4	-	14	2429	c.2430G>T	c.(2428-2430)gcG>gcT	p.A810A	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000427468.2_Silent_p.A810A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.A305A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	810	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGCCCATAGCGCTGGGCTCC	0.632																																																	0													33.0	37.0	36.0					1																	38185713		2180	4285	6465	SO:0001819	synonymous_variant	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2430G>T	1.37:g.38185713C>A			A4FU89|J3KPB5|Q6NW42	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.A810	ENST00000373048.4	37	c.2430	CCDS41305.1	1																																																																																			EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000183317		0.632	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	-	0.00	27	0	C	NM_173641		38185713	-1	tier1	-	no_errors	ENST00000427468	ensembl	human	known	74_37	silent	25.00	18	6	SNP	0.331	A
EPM2AIP1	9852	genome.wustl.edu	37	3	37033713	37033713	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:37033713G>A	ENST00000322716.5	-	1	1082	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	286					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GAGCTCAACAGTTCCAAGTGA	0.408																																																	0													82.0	79.0	80.0					3																	37033713		1882	4112	5994	SO:0001819	synonymous_variant	0			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.856C>T	3.37:g.37033713G>A			O94866|Q9H3L3	Silent	SNP	NULL	p.L286	ENST00000322716.5	37	c.856	CCDS46790.1	3																																																																																			EPM2AIP1	-	NULL	ENSG00000178567		0.408	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2AIP1	HGNC	protein_coding	OTTHUMT00000470593.1	-	0.00	25	0	G	NM_014805		37033713	-1	tier1	-	no_errors	ENST00000322716	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.592	A
EPPIN	57119	genome.wustl.edu	37	20	44174309	44174309	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr20:44174309G>T	ENST00000354280.4	-	2	258	c.192C>A	c.(190-192)agC>agA	p.S64R	EPPIN_ENST00000409554.1_Missense_Mutation_p.S64R|EPPIN_ENST00000555685.1_Missense_Mutation_p.S64R|EPPIN-WFDC6_ENST00000504988.1_Missense_Mutation_p.S64R|EPPIN_ENST00000336443.3_Missense_Mutation_p.S48R	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor	64	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TTTTTCCGCAGCTGAAGACAC	0.453																																																	0													335.0	295.0	309.0					20																	44174309		2203	4300	6503	SO:0001583	missense	0			AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588	ENST00000354280.4:c.192C>A	20.37:g.44174309G>T	ENSP00000361746:p.Ser64Arg		A6PVD6|Q86TP9|Q96SD7|Q9HD30	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_WAP-type_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.S64R	ENST00000354280.4	37	c.192	CCDS13359.1	20	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818329	0.50633	.	.	ENSG00000101448;ENSG00000101448;ENSG00000101448;ENSG00000101448;ENSG00000249139	ENST00000555685;ENST00000354280;ENST00000409554;ENST00000336443;ENST00000504988	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	4.67	2.7	0.31948	Whey acidic protein, 4-disulphide core (5);	0.951966	0.08745	N	0.899912	D	0.82522	0.5055	M	0.73319	2.225	0.26328	N	0.977567	D;D;D;D	0.69078	0.995;0.997;0.994;0.99	D;D;P;P	0.65874	0.918;0.939;0.889;0.814	T	0.66126	-0.6001	10	0.44086	T	0.13	.	7.3192	0.26517	0.2014:0.0:0.7986:0.0	.	64;64;64;48	A6PVD6;B3KWW6;O95925;O95925-2	.;.;EPPI_HUMAN;.	R	64;64;64;48;64	ENSP00000452085:S64R;ENSP00000361746:S64R;ENSP00000387153:S64R;ENSP00000338114:S48R;ENSP00000424176:S64R	ENSP00000338114:S48R	S	-	3	2	SPINLW1;SPINLW1-WFDC6	43607723	1.000000	0.71417	0.999000	0.59377	0.594000	0.36715	1.291000	0.33330	0.700000	0.31782	0.563000	0.77884	AGC	EPPIN-WFDC6	-	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core	ENSG00000249139		0.453	EPPIN-001	KNOWN	basic|CCDS	protein_coding	EPPIN-WFDC6	HGNC	protein_coding	OTTHUMT00000079467.4	-	0.00	55	0	G			44174309	-1	tier1	-	no_errors	ENST00000504988	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
ESPNL	339768	genome.wustl.edu	37	2	239040155	239040155	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:239040155G>A	ENST00000343063.3	+	9	3063	c.2800G>A	c.(2800-2802)Gcc>Acc	p.A934T	ESPNL_ENST00000409506.1_Missense_Mutation_p.A566T|ESPNL_ENST00000409169.1_Missense_Mutation_p.A890T|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	934								p.A934S(1)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCAGCGTCCCGCCTGGGATAC	0.721																																																	1	Substitution - Missense(1)	lung(1)											11.0	15.0	14.0					2																	239040155		2190	4283	6473	SO:0001583	missense	0			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2800G>A	2.37:g.239040155G>A	ENSP00000339115:p.Ala934Thr		Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A934T	ENST00000343063.3	37	c.2800	CCDS2525.1	2	.	.	.	.	.	.	.	.	.	.	G	5.893	0.348790	0.11126	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.65549	-0.16;0.93;0.54	4.72	-0.577	0.11727	.	0.755923	0.12077	N	0.501623	T	0.44052	0.1275	L	0.53249	1.67	0.09310	N	1	P;B	0.36249	0.545;0.41	B;B	0.21151	0.033;0.015	T	0.29243	-1.0018	10	0.51188	T	0.08	-2.5112	2.4667	0.04554	0.1648:0.2779:0.4227:0.1346	.	890;934	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	T	934;890;566	ENSP00000339115:A934T;ENSP00000386577:A890T;ENSP00000386579:A566T	ENSP00000339115:A934T	A	+	1	0	ESPNL	238704894	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	0.052000	0.14163	-0.498000	0.06632	0.460000	0.39030	GCC	ESPNL	-	NULL	ENSG00000144488		0.721	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPNL	HGNC	protein_coding	OTTHUMT00000257164.2	-	0.00	11	0	G	NM_194312		239040155	+1	tier1	-	no_errors	ENST00000343063	ensembl	human	known	74_37	missense	38.46	8	5	SNP	0.000	A
ETV3	2117	genome.wustl.edu	37	1	157094737	157094737	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:157094737G>A	ENST00000368192.4	-	5	1499	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C		NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	479					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TCATTCCAGCGCCGCTTCAAC	0.572																																																	0													45.0	42.0	43.0					1																	157094737		692	1591	2283	SO:0001583	missense	0			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.1435C>T	1.37:g.157094737G>A	ENSP00000357175:p.Arg479Cys		B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R479C	ENST00000368192.4	37	c.1435	CCDS44250.1	1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574089	0.65765	.	.	ENSG00000117036	ENST00000368192	T	0.22539	1.95	4.23	4.23	0.50019	.	0.158529	0.29980	N	0.010705	T	0.22282	0.0537	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	P	0.60117	0.869	T	0.00621	-1.1640	10	0.87932	D	0	.	11.697	0.51548	0.0:0.0:0.8226:0.1774	.	479	P41162	ETV3_HUMAN	C	479	ENSP00000357175:R479C	ENSP00000357175:R479C	R	-	1	0	ETV3	155361361	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.360000	0.66086	2.649000	0.89929	0.650000	0.86243	CGC	ETV3	-	NULL	ENSG00000117036		0.572	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3	HGNC	protein_coding	OTTHUMT00000082843.2	-	0.00	28	0	G	NM_005240		157094737	-1	tier1	-	no_errors	ENST00000368192	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	A
FAM135B	51059	genome.wustl.edu	37	8	139209800	139209800	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:139209800A>T	ENST00000395297.1	-	8	952	c.782T>A	c.(781-783)gTg>gAg	p.V261E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	261										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCGCATGATCACCAGGAAGTG	0.612										HNSCC(54;0.14)																																							0													62.0	72.0	68.0					8																	139209800		2144	4265	6409	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.782T>A	8.37:g.139209800A>T	ENSP00000378710:p.Val261Glu		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.V261E	ENST00000395297.1	37	c.782	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	A	1.295	-0.606437	0.03717	.	.	ENSG00000147724	ENST00000395297	T	0.78246	-1.16	4.74	-0.575	0.11734	.	1.530380	0.03652	N	0.241177	T	0.61887	0.2383	L	0.36672	1.1	0.19775	N	0.999952	B	0.26400	0.148	B	0.22152	0.038	T	0.45848	-0.9233	10	0.02654	T	1	-0.1869	4.155	0.10256	0.5203:0.1765:0.3032:0.0	.	261	Q49AJ0	F135B_HUMAN	E	261	ENSP00000378710:V261E	ENSP00000276737:V261E	V	-	2	0	FAM135B	139278982	0.063000	0.20901	0.097000	0.21041	0.736000	0.42039	0.331000	0.19733	-0.233000	0.09797	0.460000	0.39030	GTG	FAM135B	-	NULL	ENSG00000147724		0.612	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0.00	24	0	A	NM_015912		139209800	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.070	T
FAM135B	51059	genome.wustl.edu	37	8	139268978	139268978	+	Missense_Mutation	SNP	C	C	T	rs376116724		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:139268978C>T	ENST00000395297.1	-	5	492	c.322G>A	c.(322-324)Gat>Aat	p.D108N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	108								p.D108H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTTGAAAATCTACTTCACTC	0.433										HNSCC(54;0.14)																																							2	Substitution - Missense(2)	lung(2)											113.0	105.0	108.0					8																	139268978		1948	4147	6095	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.322G>A	8.37:g.139268978C>T	ENSP00000378710:p.Asp108Asn		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.D108N	ENST00000395297.1	37	c.322	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745916	0.89663	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15017	2.46	5.35	5.35	0.76521	.	0.058613	0.64402	D	0.000004	T	0.20495	0.0493	L	0.39898	1.24	0.54753	D	0.99998	D	0.56035	0.974	P	0.47981	0.563	T	0.02214	-1.1194	10	0.13470	T	0.59	-6.4081	18.4074	0.90541	0.0:1.0:0.0:0.0	.	108	Q49AJ0	F135B_HUMAN	N	108	ENSP00000378710:D108N	ENSP00000160713:D108N	D	-	1	0	FAM135B	139338160	1.000000	0.71417	0.510000	0.27712	0.923000	0.55619	7.610000	0.82949	2.663000	0.90544	0.655000	0.94253	GAT	FAM135B	-	NULL	ENSG00000147724		0.433	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0.00	18	0	C	NM_015912		139268978	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	53.57	13	15	SNP	1.000	T
FAM182B	728882	genome.wustl.edu	37	20	25755562	25755562	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr20:25755562A>C	ENST00000376403.1	-	3	772	c.394T>G	c.(394-396)Tgg>Ggg	p.W132G	FAM182B_ENST00000376404.2_Intron|FAM182B_ENST00000478164.1_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	132										lung(1)	1						TCCTGGGACCACTCCGGCCCC	0.716																																																	0																																										SO:0001583	missense	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.394T>G	20.37:g.25755562A>C	ENSP00000365585:p.Trp132Gly		Q4G0Q1	Missense_Mutation	SNP	NULL	p.W132G	ENST00000376403.1	37	c.394		20	.	.	.	.	.	.	.	.	.	.	.	0.433	-0.902472	0.02453	.	.	ENSG00000175170	ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.39036	0.1063	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.39210	-0.9625	3	0.87932	D	0	.	.	.	.	.	.	.	.	G	132	.	ENSP00000365585:W132G	W	-	1	0	FAM182B	25703562	0.019000	0.18553	0.149000	0.22428	0.150000	0.21749	-1.161000	0.03144	0.056000	0.16144	0.055000	0.15244	TGG	FAM182B	-	NULL	ENSG00000175170		0.716	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	FAM182B	HGNC	protein_coding	OTTHUMT00000078463.2		0.00	48	0	A	NR_026714		25755562	-1			no_errors	ENST00000376403	ensembl	human	putative	74_37	missense	6.80	95	7	SNP	0.150	C
FAM208A	23272	genome.wustl.edu	37	3	56703746	56703746	+	Silent	SNP	A	A	C	rs13094666	byFrequency	TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:56703746A>C	ENST00000493960.2	-	5	727	c.717T>G	c.(715-717)gtT>gtG	p.V239V	FAM208A_ENST00000355628.5_Silent_p.V239V	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	239							poly(A) RNA binding (GO:0044822)	p.V239V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTTTAAAAATAACAACATCAC	0.318													A|||	1864	0.372204	0.3964	0.4885	5008	,	,		16006	0.4613		0.2803	False		,,,				2504	0.2597																1	Substitution - coding silent(1)	kidney(1)						A		536,848		109,318,265	60.0	55.0	57.0		717	4.1	1.0	3	dbSNP_121	57	931,2249		136,659,795	no	coding-synonymous	FAM208A	NM_001112736.1		245,977,1060	CC,CA,AA		29.2767,38.7283,32.1429		239/1513	56703746	1467,3097	692	1590	2282	SO:0001819	synonymous_variant	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.717T>G	3.37:g.56703746A>C			A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	pfam_DUF3715	p.V239	ENST00000493960.2	37	c.717	CCDS46853.1	3																																																																																			FAM208A	-	pfam_DUF3715	ENSG00000163946		0.318	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2		0.00	31	0	A	NM_015224		56703746	-1			no_errors	ENST00000355628	ensembl	human	known	74_37	silent	12.50	21	3	SNP	1.000	C
FAM71F1	84691	genome.wustl.edu	37	7	128370053	128370053	+	Silent	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:128370053C>T	ENST00000315184.5	+	6	1004	c.951C>T	c.(949-951)tcC>tcT	p.S317S	FAM71F1_ENST00000485070.1_Silent_p.S216S	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	317										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGAACCCCTCCGGCCTGCAGC	0.587																																																	0													97.0	94.0	95.0					7																	128370053		2203	4300	6503	SO:0001819	synonymous_variant	0			AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.951C>T	7.37:g.128370053C>T			Q8IY75|Q8NA48	Silent	SNP	pfam_DUF3699	p.S317	ENST00000315184.5	37	c.951	CCDS5804.1	7																																																																																			FAM71F1	-	NULL	ENSG00000135248		0.587	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71F1	HGNC	protein_coding	OTTHUMT00000350544.2	-	0.00	18	0	C	NM_032599		128370053	+1	tier1	-	no_errors	ENST00000315184	ensembl	human	known	74_37	silent	42.42	38	28	SNP	0.422	T
FBXL22	283807	genome.wustl.edu	37	15	63889686	63889686	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:63889686T>C	ENST00000360587.2	+	1	135	c.95T>C	c.(94-96)cTt>cCt	p.L32P	USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560622.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.L26P|USP3-AS1_ENST00000558831.1_RNA|FBXL22_ENST00000534939.1_Missense_Mutation_p.L32P|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000561191.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	32	F-box.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						AGGAAGAGCCTTGCCAGGACC	0.582																																																	0													69.0	60.0	63.0					15																	63889686		2203	4300	6503	SO:0001583	missense	0			BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"""F-boxes / Leucine-rich repeats"""	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.95T>C	15.37:g.63889686T>C	ENSP00000353794:p.Leu32Pro			Missense_Mutation	SNP	superfamily_F-box_dom	p.L32P	ENST00000360587.2	37	c.95	CCDS10187.2	15	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054827	0.75960	.	.	ENSG00000197361	ENST00000360587;ENST00000539570	T;T	0.69435	-0.4;-0.4	5.39	5.39	0.77823	F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000002	T	0.75102	0.3804	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78147	-0.2317	10	0.87932	D	0	-4.7924	15.4428	0.75200	0.0:0.0:0.0:1.0	.	26	Q6P050	FXL22_HUMAN	P	32;26	ENSP00000353794:L32P;ENSP00000442112:L26P	ENSP00000353794:L32P	L	+	2	0	FBXL22	61676739	1.000000	0.71417	0.907000	0.35723	0.571000	0.35966	7.930000	0.87610	2.044000	0.60594	0.460000	0.39030	CTT	FBXL22	-	superfamily_F-box_dom	ENSG00000197361		0.582	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	FBXL22	HGNC	protein_coding	OTTHUMT00000256412.4	-	0.00	29	0	T	NM_203373		63889686	+1	tier1	-	no_errors	ENST00000360587	ensembl	human	known	74_37	missense	46.88	17	15	SNP	0.998	C
FGF12	2257	genome.wustl.edu	37	3	192445098	192445098	+	5'UTR	SNP	T	T	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:192445098T>G	ENST00000445105.2	-	0	130				RNU1-20P_ENST00000363314.1_RNA|FGF12_ENST00000466144.1_5'UTR|FGF12_ENST00000264730.3_5'Flank|FGF12_ENST00000450716.1_5'UTR|FGF12_ENST00000430714.1_5'UTR	NM_004113.5	NP_004104.3	P61328	FGF12_HUMAN	fibroblast growth factor 12						adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ACTTCCTTCCTTCCCCTCAGG	0.517																																																	0																																										SO:0001623	5_prime_UTR_variant	0			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000445105.2:c.-116A>C	3.37:g.192445098T>G			B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	RNA	SNP	-	NULL	ENST00000445105.2	37	NULL	CCDS46983.1	3																																																																																			FGF12	-	-	ENSG00000114279		0.517	FGF12-002	KNOWN	basic|CCDS	protein_coding	FGF12	HGNC	protein_coding	OTTHUMT00000343100.3	-	0.00	29	0	T	NM_021032		192445098	-1	tier1	-	no_errors	ENST00000466144	ensembl	human	putative	74_37	rna	39.29	34	22	SNP	1.000	G
FLCN	201163	genome.wustl.edu	37	17	17122347	17122347	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:17122347G>A	ENST00000285071.4	-	9	1502	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.P57L	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	350					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTCATGTGCCGGAGGGACTTG	0.667									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0													37.0	45.0	42.0					17																	17122347		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1048C>T	17.37:g.17122347G>A	ENSP00000285071:p.Arg350Trp		A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	pfam_Folliculin	p.R350W	ENST00000285071.4	37	c.1048	CCDS32579.1	17	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886216	0.72410	.	.	ENSG00000154803	ENST00000285071	D	0.94138	-3.36	5.83	2.44	0.29823	.	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	D	0.94321	0.7553	10	0.48119	T	0.1	-10.4875	14.6663	0.68910	0.0:0.0:0.457:0.5429	.	350	Q8NFG4	FLCN_HUMAN	W	350	ENSP00000285071:R350W	ENSP00000285071:R350W	R	-	1	2	FLCN	17063072	0.947000	0.32204	0.915000	0.36163	0.978000	0.69477	0.985000	0.29578	0.719000	0.32188	0.655000	0.94253	CGG	FLCN	-	NULL	ENSG00000154803		0.667	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	HGNC	protein_coding	OTTHUMT00000131577.1	-	0.00	34	0	G	NM_144606		17122347	-1	tier1	-	no_errors	ENST00000285071	ensembl	human	known	74_37	missense	25.56	67	23	SNP	0.988	A
FLG	2312	genome.wustl.edu	37	1	152283351	152283351	+	Silent	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:152283351G>T	ENST00000368799.1	-	3	4046	c.4011C>A	c.(4009-4011)tcC>tcA	p.S1337S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1337	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)			GTCCATGAGAGGAAGACTCTG	0.547									Ichthyosis																																								0													320.0	309.0	313.0					1																	152283351		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.4011C>A	1.37:g.152283351G>T			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S1337	ENST00000368799.1	37	c.4011	CCDS30860.1	1																																																																																			FLG	-	NULL	ENSG00000143631		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	121	0	G	NM_002016		152283351	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	silent	19.34	246	59	SNP	0.000	T
FLI1	2313	genome.wustl.edu	37	11	128651913	128651913	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:128651913A>C	ENST00000527786.2	+	5	1139	c.650A>C	c.(649-651)aAa>aCa	p.K217T	FLI1_ENST00000534087.2_Missense_Mutation_p.K184T|FLI1_ENST00000281428.8_Missense_Mutation_p.K151T|FLI1_ENST00000525560.1_Missense_Mutation_p.K24T|FLI1_ENST00000344954.6_Missense_Mutation_p.K184T	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	217					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TTGAGTGTCAAAGAAGGTAAG	0.423			T	EWSR1	Ewing sarcoma																																			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													149.0	141.0	144.0					11																	128651913		1900	4130	6030	SO:0001583	missense	0			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.650A>C	11.37:g.128651913A>C	ENSP00000433488:p.Lys217Thr		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K217T	ENST00000527786.2	37	c.650	CCDS44768.1	11	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927706	0.52759	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.26957	1.7;2.41;2.4;2.41;2.42	6.07	6.07	0.98685	.	0.637386	0.17520	N	0.171299	T	0.32255	0.0823	M	0.61703	1.905	0.80722	D	1	B;B;B	0.15930	0.012;0.015;0.001	B;B;B	0.24701	0.055;0.003;0.018	T	0.04153	-1.0973	10	0.33141	T	0.24	.	16.2903	0.82747	1.0:0.0:0.0:0.0	.	217;24;151	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	T	24;184;217;184;151	ENSP00000437124:K24T;ENSP00000339627:K184T;ENSP00000399985:K217T;ENSP00000432950:K184T;ENSP00000281428:K151T	ENSP00000281428:K151T	K	+	2	0	FLI1	128157123	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.375000	0.79646	2.326000	0.78906	0.533000	0.62120	AAA	FLI1	-	NULL	ENSG00000151702		0.423	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	HGNC	protein_coding	OTTHUMT00000386226.2	-	0.00	53	0	A	NM_002017		128651913	+1	tier1	-	no_errors	ENST00000527786	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	C
FLNA	2316	genome.wustl.edu	37	X	153590885	153590885	+	Silent	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:153590885G>T	ENST00000369850.3	-	17	2702	c.2466C>A	c.(2464-2466)atC>atA	p.I822I	FLNA_ENST00000360319.4_Silent_p.I822I|FLNA_ENST00000422373.1_Silent_p.I822I|FLNA_ENST00000344736.4_Silent_p.I822I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	822					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTCGAAGTCGATGTCAGCTT	0.622																																																	0													88.0	98.0	95.0					X																	153590885		2094	4190	6284	SO:0001819	synonymous_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2466C>A	X.37:g.153590885G>T			E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I822	ENST00000369850.3	37	c.2466	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	-	0.00	42	0	G			153590885	-1	tier1	-	no_errors	ENST00000369850	ensembl	human	known	74_37	silent	42.16	59	43	SNP	0.155	T
FNDC3A	22862	genome.wustl.edu	37	13	49762729	49762729	+	Missense_Mutation	SNP	G	G	A	rs367719937		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr13:49762729G>A	ENST00000492622.2	+	17	2209	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	FNDC3A_ENST00000398316.3_Missense_Mutation_p.R579H|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R635H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	635	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGTTTCTATCGTTTACGAGTT	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		21144	0.0		0.001	False		,,,				2504	0.0																0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	344.0	308.0	320.0		1904,1736	5.7	1.0	13		320	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FNDC3A	NM_001079673.1,NM_014923.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	635/1199,579/1143	49762729	1,13005	2203	4300	6503	SO:0001583	missense	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1904G>A	13.37:g.49762729G>A	ENSP00000417257:p.Arg635His		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R635H	ENST00000492622.2	37	c.1904	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463278	0.63513	0.0	1.16E-4	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.57595	0.39;0.39;0.39	5.72	5.72	0.89469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.66848	0.2831	M	0.79475	2.455	0.58432	D	0.999997	D;B;P	0.55385	0.971;0.366;0.721	P;B;B	0.52066	0.689;0.135;0.304	T	0.66364	-0.5942	10	0.37606	T	0.19	-7.1642	18.8544	0.92246	0.0:0.0:1.0:0.0	.	579;635;635	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	H	635;571;635;579	ENSP00000417257:R635H;ENSP00000441831:R635H;ENSP00000381362:R579H	ENSP00000338579:R571H	R	+	2	0	FNDC3A	48660730	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.473000	0.66774	2.698000	0.92095	0.591000	0.81541	CGT	FNDC3A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000102531		0.403	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	-	0.00	61	0	G	NM_014923		49762729	+1	tier1	-	no_errors	ENST00000492622	ensembl	human	known	74_37	missense	54.22	38	45	SNP	1.000	A
FSIP2	401024	genome.wustl.edu	37	2	186604132	186604132	+	Silent	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:186604132C>T	ENST00000424728.1	+	2	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L	FSIP2_ENST00000465275.1_3'UTR|AC007966.1_ENST00000421998.1_RNA|AC007966.1_ENST00000437717.1_RNA|FSIP2_ENST00000343098.5_Silent_p.L142L|AC007966.1_ENST00000427269.2_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	53										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACCTACCTCTCGGGGTCAAGC	0.473																																																	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.159C>T	2.37:g.186604132C>T			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.L142	ENST00000424728.1	37	c.426		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.473	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0.00	27	0	C	NM_173651		186604132	+1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.883	T
GBP2	2634	genome.wustl.edu	37	1	89585810	89585810	+	Intron	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:89585810G>T	ENST00000370466.3	-	4	697				GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible						cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GTGAAAAAATGAAGCTGTTAT	0.393																																																	0													42.0	40.0	41.0					1																	89585810		876	1991	2867	SO:0001627	intron_variant	0			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.428+51C>A	1.37:g.89585810G>T			Q6GPH0|Q6IAU2|Q86TB0	RNA	SNP	-	NULL	ENST00000370466.3	37	NULL	CCDS719.1	1																																																																																			GBP2	-	-	ENSG00000162645		0.393	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2	-	0.00	45	0	G	NM_004120		89585810	-1	tier1	-	no_errors	ENST00000463660	ensembl	human	known	74_37	rna	33.33	28	14	SNP	0.001	T
GIF	2694	genome.wustl.edu	37	11	59612870	59612870	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:59612870A>T	ENST00000257248.2	-	1	104	c.57T>A	c.(55-57)agT>agA	p.S19R	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	19					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GGGTCTGGGTACTAGTCCCAG	0.547																																					NSCLC(53;1139 1245 16872 38474 42853)												0													162.0	158.0	159.0					11																	59612870		2201	4295	6496	SO:0001583	missense	0			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.57T>A	11.37:g.59612870A>T	ENSP00000257248:p.Ser19Arg		B2RAN8|B4DVZ1	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.S19R	ENST00000257248.2	37	c.57	CCDS7977.1	11	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403010	0.62288	.	.	ENSG00000134812	ENST00000257248	T	0.37235	1.21	5.72	-4.54	0.03452	.	0.827437	0.11281	N	0.580342	T	0.31040	0.0784	L	0.51422	1.61	0.09310	N	0.999999	P;P	0.44946	0.846;0.846	P;B	0.46885	0.53;0.444	T	0.25916	-1.0118	10	0.51188	T	0.08	-1.8853	5.0324	0.14417	0.1752:0.1375:0.5517:0.1355	.	19;19	B4DVY6;P27352	.;IF_HUMAN	R	19	ENSP00000257248:S19R	ENSP00000257248:S19R	S	-	3	2	GIF	59369446	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.036000	0.12185	-0.363000	0.08101	-0.441000	0.05720	AGT	GIF	-	pfam_Cbl-bd_transpt_euk	ENSG00000134812		0.547	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	HGNC	protein_coding	OTTHUMT00000394497.1	-	0.00	25	0	A	NM_005142		59612870	-1	tier1	-	no_errors	ENST00000257248	ensembl	human	known	74_37	missense	23.33	22	7	SNP	0.000	T
H2AFY	9555	genome.wustl.edu	37	5	134705831	134705831	+	Splice_Site	SNP	C	C	T	rs141756450		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr5:134705831C>T	ENST00000511689.1	-	3	767	c.174G>A	c.(172-174)gcG>gcA	p.A58A	H2AFY_ENST00000510038.1_Splice_Site_p.A58A|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000304332.4_Splice_Site_p.A58A|H2AFY_ENST00000312469.4_Splice_Site_p.A58A	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	58	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGAATCTCCGCTGTGGGGA	0.592																																																	0								C	,,,	0,4406		0,0,2203	67.0	54.0	58.0		174,174,174,174	-0.9	1.0	5	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	H2AFY	NM_001040158.1,NM_004893.2,NM_138609.2,NM_138610.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	58/372,58/372,58/370,58/373	134705831	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.173-1G>A	5.37:g.134705831C>T			O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom	p.A58	ENST00000511689.1	37	c.174	CCDS4185.1	5																																																																																			H2AFY	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,pirsf_Core_histone_macro-H2A,prints_Histone_H2A	ENSG00000113648		0.592	H2AFY-001	KNOWN	basic|CCDS	protein_coding	H2AFY	HGNC	protein_coding	OTTHUMT00000251196.3	-	0.00	30	0	C	NM_004893	Silent	134705831	-1	tier1	rs141756450	no_errors	ENST00000511689	ensembl	human	known	74_37	silent	39.39	20	13	SNP	0.988	T
HLA-DQB2	3120	genome.wustl.edu	37	6	32725642	32725642	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr6:32725642G>A	ENST00000437316.2	-	4	728	c.665C>T	c.(664-666)gCc>gTc	p.A222V	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.A222V|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	226	Beta-2.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CTTGCTCTGGGCAGATTCAGA	0.557																																																	0																																										SO:0001583	missense	0			M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.665C>T	6.37:g.32725642G>A	ENSP00000396330:p.Ala222Val		A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A222V	ENST00000437316.2	37	c.665		6	.	.	.	.	.	.	.	.	.	.	.	18.70	3.680261	0.68042	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00620	6.17;6.17	3.25	3.25	0.37280	.	0.862500	0.09512	U	0.792123	T	0.01454	0.0047	.	.	.	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.60556	-0.7240	9	0.87932	D	0	.	12.3024	0.54882	0.0:0.0:1.0:0.0	.	222	A2ADX3	.	V	222	ENSP00000396330:A222V;ENSP00000410512:A222V	ENSP00000410512:A222V	A	-	2	0	HLA-DQB2	32833620	0.256000	0.24012	0.997000	0.53966	0.885000	0.51271	2.223000	0.42936	1.810000	0.52873	0.491000	0.48974	GCC	HLA-DQB2	-	NULL	ENSG00000232629		0.557	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	HLA-DQB2	HGNC	protein_coding	OTTHUMT00000076216.2	-	0.00	35	0	G			32725642	-1	tier1	-	no_errors	ENST00000435145	ensembl	human	known	74_37	missense	45.61	31	26	SNP	1.000	A
HOXB5	3215	genome.wustl.edu	37	17	46670668	46670668	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:46670668G>A	ENST00000239151.5	-	1	655	c.377C>T	c.(376-378)tCc>tTc	p.S126F	HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	126					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	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)			large_intestine(1)|lung(2)	3						ATTGGCGCTGGAGCTGGCTGA	0.682																																																	0													30.0	33.0	32.0					17																	46670668		2203	4300	6503	SO:0001583	missense	0				CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.377C>T	17.37:g.46670668G>A	ENSP00000239151:p.Ser126Phe		B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S126F	ENST00000239151.5	37	c.377	CCDS11530.1	17	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800055	0.31869	.	.	ENSG00000120075	ENST00000239151	D	0.92911	-3.13	5.31	5.31	0.75309	.	0.122645	0.53938	D	0.000047	D	0.92198	0.7526	M	0.77313	2.365	0.53005	D	0.999963	B	0.30824	0.296	B	0.29440	0.102	D	0.91608	0.5300	10	0.62326	D	0.03	.	18.5879	0.91197	0.0:0.0:1.0:0.0	.	126	P09067	HXB5_HUMAN	F	126	ENSP00000239151:S126F	ENSP00000239151:S126F	S	-	2	0	HOXB5	44025667	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	2.494000	0.45329	2.481000	0.83766	0.455000	0.32223	TCC	HOXB5	-	NULL	ENSG00000120075		0.682	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB5	HGNC	protein_coding	OTTHUMT00000358148.2	-	0.00	64	0	G			46670668	-1	tier1	-	no_errors	ENST00000239151	ensembl	human	known	74_37	missense	38.14	73	45	SNP	1.000	A
HUWE1	10075	genome.wustl.edu	37	X	53641613	53641613	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:53641613G>T	ENST00000342160.3	-	22	2600	c.2143C>A	c.(2143-2145)Ccc>Acc	p.P715T	HUWE1_ENST00000262854.6_Missense_Mutation_p.P715T|HUWE1_ENST00000218328.8_Missense_Mutation_p.P715T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	715					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACCTTGGGGGAGGAGCAGTG	0.478																																																	0													146.0	124.0	132.0					X																	53641613		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2143C>A	X.37:g.53641613G>T	ENSP00000340648:p.Pro715Thr		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.P715T	ENST00000342160.3	37	c.2143	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530536	0.64860	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.41400	1.0;1.0;1.0	5.46	5.46	0.80206	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	0.312733	0.30869	N	0.008712	T	0.35307	0.0927	L	0.34521	1.04	0.80722	D	1	B	0.25048	0.117	B	0.35073	0.195	T	0.11767	-1.0574	10	0.02654	T	1	.	16.9953	0.86366	0.0:0.0:1.0:0.0	.	715	Q7Z6Z7	HUWE1_HUMAN	T	715	ENSP00000340648:P715T;ENSP00000262854:P715T;ENSP00000218328:P715T	ENSP00000218328:P715T	P	-	1	0	HUWE1	53658338	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.953000	0.93041	2.275000	0.75901	0.600000	0.82982	CCC	HUWE1	-	pfam_E3_Ub_ligase_DUF913	ENSG00000086758		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0.00	23	0	G	XM_497119		53641613	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	T
IFT122	55764	genome.wustl.edu	37	3	129195555	129195555	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:129195555G>T	ENST00000348417.2	+	11	1135	c.1058G>T	c.(1057-1059)aGc>aTc	p.S353I	IFT122_ENST00000347300.2_Missense_Mutation_p.S294I|IFT122_ENST00000296266.3_Missense_Mutation_p.S404I|IFT122_ENST00000431818.2_Missense_Mutation_p.S203I|IFT122_ENST00000349441.2_Missense_Mutation_p.S242I|IFT122_ENST00000507564.1_Missense_Mutation_p.S345I|IFT122_ENST00000440957.2_Missense_Mutation_p.S144I|IFT122_ENST00000504021.1_Missense_Mutation_p.S247I	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	353					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTTATTTTCAGCACAGTCCAT	0.527																																																	0													99.0	100.0	99.0					3																	129195555		2203	4300	6503	SO:0001583	missense	0			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1058G>T	3.37:g.129195555G>T	ENSP00000324005:p.Ser353Ile		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S404I	ENST00000348417.2	37	c.1211	CCDS3061.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.510868|4.510868	0.85389|0.85389	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000512157;ENST00000515783|ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	.|T;T;T;D;T;T;T;D	.|0.90133	.|0.65;-0.0;0.12;-2.62;0.78;0.78;0.64;-2.62	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95211|0.95211	0.8447|0.8447	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D;D;D;P;P;P;D;D	.|0.76494	.|0.999;0.996;0.985;0.896;0.896;0.937;0.998;0.999	.|D;D;P;B;B;P;D;D	.|0.83275	.|0.996;0.974;0.861;0.248;0.248;0.637;0.991;0.996	D|D	0.95163|0.95163	0.8283|0.8283	5|10	.|0.72032	.|D	.|0.01	-28.1798|-28.1798	19.7278|19.7278	0.96172|0.96172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|144;345;247;193;242;294;353;404	.|E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.|.;.;.;.;.;.;IF122_HUMAN;.	H|I	231;179|294;404;345;294;203;247;242;353;193;144	.|ENSP00000323973:S294I;ENSP00000296266:S404I;ENSP00000425536:S345I;ENSP00000410946:S203I;ENSP00000422179:S247I;ENSP00000324165:S242I;ENSP00000324005:S353I;ENSP00000401569:S144I	.|ENSP00000296266:S404I	Q|S	+|+	3|2	2|0	IFT122|IFT122	130678245|130678245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.473000|7.473000	0.81007|0.81007	2.656000|2.656000	0.90262|0.90262	0.591000|0.591000	0.81541|0.81541	CAG|AGC	IFT122	-	NULL	ENSG00000163913		0.527	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	-	0.00	26	0	G	NM_018262		129195555	+1	tier1	-	no_errors	ENST00000296266	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	T
JAG2	3714	genome.wustl.edu	37	14	105609908	105609908	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr14:105609908G>A	ENST00000331782.3	-	25	3555	c.3152C>T	c.(3151-3153)gCc>gTc	p.A1051V	JAG2_ENST00000347004.2_Missense_Mutation_p.A1013V	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1051					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGTGATGGCGGCCACGATGGC	0.662																																																	0													39.0	34.0	35.0					14																	105609908		2193	4294	6487	SO:0001583	missense	0			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3152C>T	14.37:g.105609908G>A	ENSP00000328169:p.Ala1051Val		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.A1051V	ENST00000331782.3	37	c.3152	CCDS9998.1	14	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497210	0.44352	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86562	-2.14;-2.14	4.69	2.44	0.29823	.	0.566985	0.18579	N	0.137114	T	0.79125	0.4393	L	0.36672	1.1	0.19945	N	0.999947	P;B	0.35944	0.529;0.394	B;B	0.36845	0.234;0.118	T	0.71928	-0.4444	10	0.62326	D	0.03	.	6.6631	0.23024	0.0:0.1326:0.4256:0.4418	.	1013;1051	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	V	1051;1013	ENSP00000328169:A1051V;ENSP00000328566:A1013V	ENSP00000328169:A1051V	A	-	2	0	JAG2	104680953	0.000000	0.05858	0.898000	0.35279	0.581000	0.36288	0.435000	0.21510	2.164000	0.68074	0.313000	0.20887	GCC	JAG2	-	NULL	ENSG00000184916		0.662	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	-	0.00	42	0	G			105609908	-1	tier1	-	no_errors	ENST00000331782	ensembl	human	known	74_37	missense	33.33	32	16	SNP	0.372	A
KDR	3791	genome.wustl.edu	37	4	55981097	55981097	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr4:55981097T>A	ENST00000263923.4	-	5	897	c.602A>T	c.(601-603)gAa>gTa	p.E201V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	201	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATTTTTGCTTCACAGAAGAC	0.378			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													83.0	83.0	83.0					4																	55981097		2203	4300	6503	SO:0001583	missense	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.602A>T	4.37:g.55981097T>A	ENSP00000263923:p.Glu201Val		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.E201V	ENST00000263923.4	37	c.602	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582255	0.86748	.	.	ENSG00000128052	ENST00000263923	T	0.04360	3.64	5.9	5.9	0.94986	Immunoglobulin-like fold (1);	0.051951	0.85682	D	0.000000	T	0.15435	0.0372	L	0.45228	1.405	0.58432	D	0.999992	D;D	0.76494	0.999;0.987	D;P	0.72982	0.979;0.719	T	0.00986	-1.1490	10	0.41790	T	0.15	.	16.315	0.82915	0.0:0.0:0.0:1.0	.	201;201	P35968-2;P35968	.;VGFR2_HUMAN	V	201	ENSP00000263923:E201V	ENSP00000263923:E201V	E	-	2	0	KDR	55675854	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.361000	0.79497	2.250000	0.74265	0.533000	0.62120	GAA	KDR	-	smart_Ig_sub	ENSG00000128052		0.378	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	-	0.00	22	0	T			55981097	-1	tier1	-	no_errors	ENST00000263923	ensembl	human	known	74_37	missense	38.46	8	5	SNP	1.000	A
KIAA1324L	222223	genome.wustl.edu	37	7	86556124	86556124	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:86556124G>T	ENST00000450689.2	-	9	1383	c.1198C>A	c.(1198-1200)Cct>Act	p.P400T	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.P400T|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P233T|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P160T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	400						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TAAAATCCAGGGTTGCAAGGC	0.458																																																	0													136.0	135.0	135.0					7																	86556124		2203	4300	6503	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1198C>A	7.37:g.86556124G>T	ENSP00000413445:p.Pro400Thr		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.P400T	ENST00000450689.2	37	c.1198	CCDS47632.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.416585|4.416585	0.83449|0.83449	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	.|T;T;T;T	.|0.16073	.|2.37;2.37;2.37;2.37	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Growth factor, receptor (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.47377|0.47377	0.1442|0.1442	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.985;0.985	.|D;P;P	.|0.74674	.|0.984;0.847;0.847	T|T	0.49615|0.49615	-0.8921|-0.8921	6|10	.|0.62326	.|D	.|0.03	.|.	18.4488|18.4488	0.90696|0.90696	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|400;160;233	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	H|T	360|400;160;400;233	.|ENSP00000413445:P400T;ENSP00000297222:P160T;ENSP00000397377:P400T;ENSP00000402390:P233T	.|ENSP00000297222:P160T	P|P	-|-	2|1	0|0	KIAA1324L|KIAA1324L	86394060|86394060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.868000|7.868000	0.87116|0.87116	2.596000|2.596000	0.87737|0.87737	0.563000|0.563000	0.77884|0.77884	CCC|CCT	KIAA1324L	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000164659		0.458	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0.00	27	0	G	NM_152748		86556124	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	43.94	37	29	SNP	1.000	T
KIAA1549	57670	genome.wustl.edu	37	7	138552846	138552846	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:138552846G>A	ENST00000422774.1	-	15	4852	c.4804C>T	c.(4804-4806)Cgc>Tgc	p.R1602C	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1602C|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1552C			Q9HCM3	K1549_HUMAN	KIAA1549	1602						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTTTCCGGCGAGGCTTGGGA	0.542			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													47.0	53.0	51.0					7																	138552846		2036	4176	6212	SO:0001583	missense	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4804C>T	7.37:g.138552846G>A	ENSP00000416040:p.Arg1602Cys		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.R1602C	ENST00000422774.1	37	c.4804	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113284	0.77210	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.29397	1.57;1.58;1.6	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.997	T	0.55062	-0.8199	10	0.72032	D	0.01	.	11.9633	0.53021	0.0:0.0:0.8268:0.1732	.	1602;386;1602;386	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	C	1602;1552;1602	ENSP00000406661:R1602C;ENSP00000242365:R1552C;ENSP00000416040:R1602C	ENSP00000242365:R1552C	R	-	1	0	KIAA1549	138203386	1.000000	0.71417	0.961000	0.40146	0.989000	0.77384	4.091000	0.57700	2.493000	0.84123	0.655000	0.94253	CGC	KIAA1549	-	NULL	ENSG00000122778		0.542	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	-	0.00	29	0	G			138552846	-1	tier1	-	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	26.67	44	16	SNP	0.996	A
KMT2C	58508	genome.wustl.edu	37	7	151878713	151878713	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:151878713T>C	ENST00000262189.6	-	36	6450	c.6232A>G	c.(6232-6234)Aca>Gca	p.T2078A	KMT2C_ENST00000355193.2_Missense_Mutation_p.T2078A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2078	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGTCTTGGTGTCAAAGCAGGC	0.453																																																	0													73.0	74.0	73.0					7																	151878713		2203	4300	6503	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6232A>G	7.37:g.151878713T>C	ENSP00000262189:p.Thr2078Ala		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.T2078A	ENST00000262189.6	37	c.6232	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	15.03	2.712000	0.48517	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84660	-1.88;-1.88	5.52	4.36	0.52297	.	0.000000	0.46145	D	0.000309	D	0.89615	0.6766	L	0.60455	1.87	0.80722	D	1	D;P	0.69078	0.997;0.94	D;P	0.75020	0.985;0.731	D	0.89114	0.3498	10	0.59425	D	0.04	.	11.4437	0.50110	0.0:0.0708:0.0:0.9292	.	2078;1139	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	A	2078	ENSP00000262189:T2078A;ENSP00000347325:T2078A	ENSP00000262189:T2078A	T	-	1	0	MLL3	151509646	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	3.221000	0.51215	0.919000	0.36945	0.460000	0.39030	ACA	KMT2C	-	NULL	ENSG00000055609		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0.00	29	0	T			151878713	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	17.24	48	10	SNP	1.000	C
KRT8	3856	genome.wustl.edu	37	12	53298675	53298675	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr12:53298675A>C	ENST00000552551.1	-	2	523	c.91T>G	c.(91-93)Tcc>Gcc	p.S31A	KRT8_ENST00000546897.1_Missense_Mutation_p.S31A|KRT8_ENST00000552150.1_Missense_Mutation_p.S59A|KRT8_ENST00000293308.6_Missense_Mutation_p.S31A			P05787	K2C8_HUMAN	keratin 8	31	Head.|Ser-rich.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.S31A(4)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CTGATGCGGGAACCGGGCCCA	0.662																																																	4	Substitution - Missense(4)	endometrium(2)|prostate(1)|liver(1)											12.0	14.0	13.0					12																	53298675		2120	4158	6278	SO:0001583	missense	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.91T>G	12.37:g.53298675A>C	ENSP00000447566:p.Ser31Ala		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.S31A	ENST00000552551.1	37	c.91	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	-	0.012	-1.651707	0.00785	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826;ENST00000548998;ENST00000547413;ENST00000546542	T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.05	-8.11	0.01082	.	0.706613	0.13676	N	0.370518	T	0.40619	0.1124	N	0.01197	-0.965	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.43589	-0.9382	10	0.05351	T	0.99	.	6.5956	0.22672	0.4212:0.312:0.0:0.2668	.	59;31;31	F8VXB4;F8VU64;P05787	.;.;K2C8_HUMAN	A	31;31;31;31;59;31;71;31;109	ENSP00000447566:S31A;ENSP00000293308:S31A;ENSP00000447402:S31A;ENSP00000449404:S59A;ENSP00000447881:S31A;ENSP00000447040:S71A;ENSP00000448681:S31A;ENSP00000450228:S109A	ENSP00000293308:S31A	S	-	1	0	KRT8	51584942	0.005000	0.15991	0.000000	0.03702	0.065000	0.16274	-0.018000	0.12568	-3.264000	0.00201	-0.290000	0.09829	TCC	KRT8	-	NULL	ENSG00000170421		0.662	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	HGNC	protein_coding	OTTHUMT00000406385.1		0.00	28	0	A	NM_002273		53298675	-1			no_errors	ENST00000293308	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.000	C
LAMP2	3920	genome.wustl.edu	37	X	119589255	119589255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:119589255G>T	ENST00000200639.4	-	3	490	c.354C>A	c.(352-354)taC>taA	p.Y118*	LAMP2_ENST00000540603.1_Nonsense_Mutation_p.Y71*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.Y118*|LAMP2_ENST00000371335.4_Nonsense_Mutation_p.Y118*|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	118	First lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CACCAGTGTTGTAGGAAAATG	0.373																																																	0													147.0	127.0	134.0					X																	119589255		2203	4300	6503	SO:0001587	stop_gained	0			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.354C>A	X.37:g.119589255G>T	ENSP00000200639:p.Tyr118*		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Nonsense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.Y118*	ENST00000200639.4	37	c.354	CCDS14599.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.220073	0.97385	.	.	ENSG00000005893	ENST00000434600;ENST00000200639;ENST00000371335;ENST00000540603	.	.	.	5.45	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6856	9.7338	0.40376	0.2083:0.0:0.7917:0.0	.	.	.	.	X	118;118;118;71	.	ENSP00000200639:Y118X	Y	-	3	2	LAMP2	119473283	1.000000	0.71417	0.989000	0.46669	0.964000	0.63967	2.592000	0.46171	1.073000	0.40885	0.600000	0.82982	TAC	LAMP2	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000005893		0.373	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LAMP2	HGNC	protein_coding	OTTHUMT00000058099.1	-	0.00	42	0	G			119589255	-1	tier1	-	no_errors	ENST00000434600	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	0.984	T
CARD11	84433	genome.wustl.edu	37	7	2983806	2983806	+	Intron	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:2983806C>A	ENST00000396946.4	-	5	1088				AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11						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)			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)		TTTGTTTCCCCCGGGTCACCC	0.612			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													33.0	26.0	28.0					7																	2983806		2202	4298	6500	SO:0001627	intron_variant	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.684+39G>T	7.37:g.2983806C>A			A4D1Z7|Q2NKN7|Q548H3	RNA	SNP	-	NULL	ENST00000396946.4	37	NULL	CCDS5336.2	7																																																																																			AC004906.3	-	-	ENSG00000237286		0.612	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927256	Clone_based_vega_gene	protein_coding	OTTHUMT00000059344.4	-	0.00	20	0	C	NM_032415		2983806	+1	tier1	-	no_errors	ENST00000423194	ensembl	human	known	74_37	rna	18.18	18	4	SNP	0.005	A
LOC441666	441666	genome.wustl.edu	37	10	42832981	42832981	+	RNA	SNP	G	G	C	rs564760204		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:42832981G>C	ENST00000609841.1	-	0	922					NR_024380.1																						CACATTTGTAGGGTTTCTCTC	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		19154	0.001		0.0	False		,,,				2504	0.0																0																																												0																															10.37:g.42832981G>C				RNA	SNP	-	NULL	ENST00000609841.1	37	NULL		10																																																																																			RP11-313J2.1	-	-	ENSG00000215146		0.348	RP11-313J2.1-002	KNOWN	basic	processed_transcript	LOC441666	Clone_based_vega_gene	pseudogene	OTTHUMT00000472483.1	-	0.00	43	0	G			42832981	-1	tier1	-	no_errors	ENST00000609841	ensembl	human	known	74_37	rna	51.16	21	22	SNP	0.276	C
LRP12	29967	genome.wustl.edu	37	8	105509215	105509215	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:105509215C>G	ENST00000276654.5	-	5	1673	c.1565G>C	c.(1564-1566)aGa>aCa	p.R522T	LRP12_ENST00000424843.2_Missense_Mutation_p.R503T|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	522					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCAAACATTCTCAGAGAATA	0.423																																																	0													84.0	76.0	79.0					8																	105509215		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1565G>C	8.37:g.105509215C>G	ENSP00000276654:p.Arg522Thr		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.R503T	ENST00000276654.5	37	c.1508	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308903	0.81247	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.94457	-2.15;-2.08;-3.43	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.96975	0.9012	M	0.67953	2.075	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.75020	0.985;0.977	D	0.97044	0.9759	10	0.87932	D	0	-22.7137	20.0693	0.97712	0.0:1.0:0.0:0.0	.	503;522	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	T	503;522;111	ENSP00000399148:R503T;ENSP00000276654:R522T;ENSP00000429305:R111T	ENSP00000276654:R522T	R	-	2	0	LRP12	105578391	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.818000	0.86416	2.758000	0.94735	0.563000	0.77884	AGA	LRP12	-	NULL	ENSG00000147650		0.423	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0.00	24	0	C	NM_013437		105509215	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	47.37	30	27	SNP	1.000	G
LRRC23	10233	genome.wustl.edu	37	12	7016543	7016543	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr12:7016543G>A	ENST00000007969.8	+	5	775	c.555G>A	c.(553-555)gaG>gaA	p.E185E	LRRC23_ENST00000443597.2_Silent_p.E185E|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000433346.1_Silent_p.E185E|LRRC23_ENST00000436789.1_Silent_p.E185E|LRRC23_ENST00000323702.5_Silent_p.E185E	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	185										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						ACACAGTGGAGCTTCGGGGGA	0.567																																																	0													127.0	123.0	124.0					12																	7016543		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.555G>A	12.37:g.7016543G>A			A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Silent	SNP	pfam_Leu-rich_rpt	p.E185	ENST00000007969.8	37	c.555	CCDS8569.1	12																																																																																			LRRC23	-	NULL	ENSG00000010626		0.567	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC23	HGNC	protein_coding	OTTHUMT00000345214.1	-	0.00	30	0	G	NM_006992		7016543	+1	tier1	-	no_errors	ENST00000007969	ensembl	human	known	74_37	silent	21.43	66	18	SNP	1.000	A
MAMDC4	158056	genome.wustl.edu	37	9	139749014	139749017	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	GAGA	GAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr9:139749014_139749017delGAGA	ENST00000317446.2	+	8	870_873	c.820_823delGAGA	c.(820-825)gagacafs	p.ET274fs	MAMDC4_ENST00000445819.1_Frame_Shift_Del_p.ET274fs|MAMDC4_ENST00000485732.1_3'UTR	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)		CACCGACTTTGAGACAGGCCTGGG	0.696																																																	0																																										SO:0001589	frameshift_variant	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.820_823delGAGA	9.37:g.139749014_139749017delGAGA	ENSP00000319388:p.Glu274fs			Frame_Shift_Del	DEL	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.E274fs	ENST00000317446.2	37	c.820_823	CCDS7010.1	9																																																																																			MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.696	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3		0.00	18	0	GAGA	NM_206920		139749017	+1	tier1		no_errors	ENST00000445819	ensembl	human	known	74_37	frame_shift_del	29.41	12	5	DEL	0.967:0.954:0.901:0.177	-
MAML2	84441	genome.wustl.edu	37	11	96074769	96074769	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:96074769G>A	ENST00000524717.1	-	1	1575	c.291C>T	c.(289-291)gcC>gcT	p.A97A	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	97					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				tggcagcagtggcggtggcct	0.647			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													13.0	19.0	17.0					11																	96074769		1885	3900	5785	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.291C>T	11.37:g.96074769G>A		1317	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.A97	ENST00000524717.1	37	c.291	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.647	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0.00	31	0	G			96074769	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	silent	56.86	22	29	SNP	0.010	A
MAP1B	4131	genome.wustl.edu	37	5	71493714	71493714	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr5:71493714G>T	ENST00000296755.7	+	5	4830	c.4532G>T	c.(4531-4533)gGa>gTa	p.G1511V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1511					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTCAGTTTGGATCTTTTAAA	0.433																																					Melanoma(17;367 822 11631 31730 47712)												0													129.0	125.0	126.0					5																	71493714		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4532G>T	5.37:g.71493714G>T	ENSP00000296755:p.Gly1511Val		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.G1511V	ENST00000296755.7	37	c.4532	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090376	0.36855	.	.	ENSG00000131711	ENST00000296755	T	0.03607	3.87	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000004	T	0.02888	0.0086	N	0.19112	0.55	0.58432	D	0.999999	P;P	0.35077	0.483;0.483	B;B	0.21360	0.034;0.034	T	0.56147	-0.8027	10	0.54805	T	0.06	-20.9347	14.3622	0.66779	0.0:0.0:0.852:0.148	.	1385;1511	A2BDK6;P46821	.;MAP1B_HUMAN	V	1511	ENSP00000296755:G1511V	ENSP00000296755:G1511V	G	+	2	0	MAP1B	71529470	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.530000	0.60595	2.627000	0.88993	0.561000	0.74099	GGA	MAP1B	-	NULL	ENSG00000131711		0.433	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0.00	31	0	G	NM_005909		71493714	+1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.992	T
MBTPS2	51360	genome.wustl.edu	37	X	21896254	21896254	+	Splice_Site	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:21896254G>T	ENST00000379484.5	+	8	1164	c.1065G>T	c.(1063-1065)ttG>ttT	p.L355F		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	355	Cys-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ATAAGCGTTTGGTAAGTTGTC	0.353																																																	0													59.0	53.0	55.0					X																	21896254		2203	4300	6503	SO:0001630	splice_region_variant	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1065+1G>T	X.37:g.21896254G>T			Q9UM70|Q9UMD3	Missense_Mutation	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2	p.L355F	ENST00000379484.5	37	c.1065	CCDS14201.1	X	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358066	0.61403	.	.	ENSG00000012174	ENST00000379484	D	0.94092	-3.35	5.4	5.4	0.78164	Peptidase M50 (1);	0.766160	0.12145	N	0.495484	D	0.92293	0.7555	L	0.40543	1.245	0.80722	D	1	P	0.49696	0.927	P	0.45343	0.477	D	0.91716	0.5385	10	0.56958	D	0.05	-17.1481	18.2052	0.89852	0.0:0.0:1.0:0.0	.	355	O43462	MBTP2_HUMAN	F	355	ENSP00000368798:L355F	ENSP00000368798:L355F	L	+	3	2	MBTPS2	21806175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.806000	0.62569	2.492000	0.84095	0.600000	0.82982	TTG	MBTPS2	-	pfam_Peptidase_M50	ENSG00000012174		0.353	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	-	0.00	28	0	G		Missense_Mutation	21896254	+1	tier1	-	no_errors	ENST00000379484	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
MCF2L2	23101	genome.wustl.edu	37	3	182948802	182948802	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:182948802G>A	ENST00000328913.3	-	16	2163	c.1866C>T	c.(1864-1866)cgC>cgT	p.R622R	MCF2L2_ENST00000473233.1_Silent_p.R622R|MCF2L2_ENST00000447025.2_Silent_p.R622R	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	622	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CACGTATAATGCGCCTGAATC	0.393																																																	0													120.0	111.0	114.0					3																	182948802		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1866C>T	3.37:g.182948802G>A			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R622	ENST00000328913.3	37	c.1866	CCDS3243.1	3																																																																																			MCF2L2	-	superfamily_DH-domain,pfscan_DH-domain	ENSG00000053524		0.393	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	-	0.00	20	0	G	NM_015078		182948802	-1	tier1	-	no_errors	ENST00000328913	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.031	A
MEP1A	4224	genome.wustl.edu	37	6	46787380	46787380	+	Silent	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr6:46787380C>T	ENST00000230588.4	+	7	504	c.495C>T	c.(493-495)caC>caT	p.H165H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	165	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GATTTTACCACGAGCAGTCAA	0.473																																																	0													271.0	249.0	256.0					6																	46787380		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.495C>T	6.37:g.46787380C>T			A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.H165	ENST00000230588.4	37	c.495	CCDS4918.1	6																																																																																			MEP1A	-	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	ENSG00000112818		0.473	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	-	0.00	49	0	C	NM_005588		46787380	+1	tier1	-	no_errors	ENST00000230588	ensembl	human	known	74_37	silent	81.58	14	62	SNP	0.948	T
METTL11B	149281	genome.wustl.edu	37	1	170136782	170136782	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:170136782C>T	ENST00000439373.2	+	4	843	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W		NM_001136107.1	NP_001129579.1	Q5VVY1	NTM1B_HUMAN	methyltransferase like 11B	246						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			NS(1)|breast(2)|endometrium(3)|prostate(2)	8						GGACATCCTCCGGAGCCTAAT	0.552																																																	0													54.0	53.0	53.0					1																	170136782		692	1591	2283	SO:0001583	missense	0			AL445203, CAH72139	CCDS44275.1	1q24.2	2012-11-05	2008-06-11	2008-06-11	ENSG00000203740	ENSG00000203740			31932	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 184"""	C1orf184			Standard	NM_001136107		Approved	HOMT1B	uc009wvv.1	Q5VVY1	OTTHUMG00000035959	ENST00000439373.2:c.736C>T	1.37:g.170136782C>T	ENSP00000408058:p.Arg246Trp		B2RXI0	Missense_Mutation	SNP	pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik	p.R246W	ENST00000439373.2	37	c.736	CCDS44275.1	1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405828	0.62288	.	.	ENSG00000203740	ENST00000439373	T	0.25749	1.78	5.16	2.18	0.27775	.	0.453450	0.25430	N	0.030729	T	0.26412	0.0645	M	0.87381	2.88	0.23003	N	0.998446	D	0.76494	0.999	P	0.52386	0.697	T	0.10405	-1.0631	10	0.56958	D	0.05	-7.1574	8.3481	0.32286	0.5167:0.4109:0.0:0.0724	.	246	Q5VVY1	NTM1B_HUMAN	W	246	ENSP00000408058:R246W	ENSP00000408058:R246W	R	+	1	2	METTL11B	168403406	0.006000	0.16342	0.050000	0.19076	0.993000	0.82548	0.587000	0.23909	0.257000	0.21650	0.650000	0.86243	CGG	METTL11B	-	pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik	ENSG00000203740		0.552	METTL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL11B	HGNC	protein_coding	OTTHUMT00000087586.2	-	0.00	42	0	C	NM_001136107		170136782	+1	tier1	-	no_errors	ENST00000439373	ensembl	human	known	74_37	missense	16.42	56	11	SNP	0.237	T
MIR3672	100500869	genome.wustl.edu	37	X	120504889	120504889	+	RNA	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:120504889C>T	ENST00000584290.1	+	0	64					NR_037444.1				microRNA 3672																		ttttatgagtctcatgataat	0.279																																																	0																																												0					X	2011-09-12				ENSG00000265456		"""ncRNAs / Micro RNAs"""	38957	non-coding RNA	RNA, micro							Standard	NR_037444		Approved	hsa-mir-3672					X.37:g.120504889C>T				RNA	SNP	-	NULL	ENST00000584290.1	37	NULL		X																																																																																			MIR3672	-	-	ENSG00000265456		0.279	MIR3672-201	KNOWN	basic	miRNA	MIR3672	HGNC	miRNA		-	0.00	8	0	C	NR_037444		120504889	+1	tier1	-	no_errors	ENST00000584290	ensembl	human	known	74_37	rna	36.36	7	4	SNP	0.033	T
MLXIPL	51085	genome.wustl.edu	37	7	73013902	73013902	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:73013902G>A	ENST00000313375.3	-	8	1072	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L	MLXIPL_ENST00000434326.1_Missense_Mutation_p.P249L|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P342L|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P249L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P342L|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P342L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	342					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGAGGAAGCCGGGGGCACCTC	0.652																																																	0													43.0	51.0	48.0					7																	73013902		2203	4300	6503	SO:0001583	missense	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1025C>T	7.37:g.73013902G>A	ENSP00000320886:p.Pro342Leu		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P342L	ENST00000313375.3	37	c.1025	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	g	8.404	0.842674	0.16963	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.20200	2.63;2.63;2.64;2.62;2.1;2.09	4.52	3.63	0.41609	.	0.882355	0.09547	U	0.787490	T	0.17066	0.0410	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.15473	0.013;0.004;0.002;0.004;0.004;0.004	B;B;B;B;B;B	0.08055	0.001;0.003;0.001;0.002;0.002;0.002	T	0.26087	-1.0113	10	0.28530	T	0.3	-0.4225	8.5505	0.33449	0.1092:0.0:0.8908:0.0	.	249;249;342;342;342;342	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	L	342;342;342;342;249;249;175	ENSP00000412330:P342L;ENSP00000406296:P342L;ENSP00000320886:P342L;ENSP00000346629:P342L;ENSP00000378616:P249L;ENSP00000392636:P249L	ENSP00000320886:P342L	P	-	2	0	MLXIPL	72651838	0.446000	0.25665	0.005000	0.12908	0.006000	0.05464	3.942000	0.56614	0.894000	0.36317	0.550000	0.68814	CCG	MLXIPL	-	NULL	ENSG00000009950		0.652	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	-	0.00	20	0	G	NM_032951		73013902	-1	tier1	-	no_errors	ENST00000313375	ensembl	human	known	74_37	missense	37.74	32	20	SNP	0.002	A
MLXIPL	51085	genome.wustl.edu	37	7	73013937	73013937	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:73013937G>A	ENST00000313375.3	-	8	1037	c.990C>T	c.(988-990)ctC>ctT	p.L330L	MLXIPL_ENST00000434326.1_Silent_p.L237L|MLXIPL_ENST00000414749.2_Silent_p.L330L|MLXIPL_ENST00000395189.1_Silent_p.L237L|MLXIPL_ENST00000429400.2_Silent_p.L330L|MLXIPL_ENST00000354613.1_Silent_p.L330L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	330					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACTGCTGAAGAGGGAGTCAA	0.632																																																	0													48.0	57.0	54.0					7																	73013937		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.990C>T	7.37:g.73013937G>A			C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L330	ENST00000313375.3	37	c.990	CCDS5553.1	7																																																																																			MLXIPL	-	NULL	ENSG00000009950		0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1		0.00	19	0	G	NM_032951		73013937	-1			no_errors	ENST00000313375	ensembl	human	known	74_37	silent	57.50	16	23	SNP	0.661	A
MPPED2	744	genome.wustl.edu	37	11	30439152	30439152	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:30439152T>C	ENST00000358117.5	-	4	687	c.565A>G	c.(565-567)Aac>Gac	p.N189D	MPPED2_ENST00000448418.2_Missense_Mutation_p.N189D|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	189					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTGGGTAGGTTAAAGCCCCAT	0.522																																																	0													94.0	84.0	87.0					11																	30439152		2202	4299	6501	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.565A>G	11.37:g.30439152T>C	ENSP00000350833:p.Asn189Asp		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_PEstase_dom	p.N189D	ENST00000358117.5	37	c.565	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873801	0.91664	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	D;D	0.84660	-1.88;-1.88	5.78	5.78	0.91487	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.89283	0.6671	M	0.77616	2.38	0.80722	D	1	P;P	0.46952	0.887;0.522	P;B	0.50490	0.642;0.269	D	0.89384	0.3684	10	0.45353	T	0.12	-20.0832	16.1021	0.81178	0.0:0.0:0.0:1.0	.	189;189	Q15777;E9PB10	MPPD2_HUMAN;.	D	189	ENSP00000388258:N189D;ENSP00000350833:N189D	ENSP00000350833:N189D	N	-	1	0	MPPED2	30395728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.210000	0.71456	0.533000	0.62120	AAC	MPPED2	-	pfam_PEstase_dom	ENSG00000066382		0.522	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	-	0.00	26	0	T	NM_001584		30439152	-1	tier1	-	no_errors	ENST00000358117	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	C
MSH6	2956	genome.wustl.edu	37	2	48033609	48033609	+	Missense_Mutation	SNP	G	G	C	rs587779294		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:48033609G>C	ENST00000234420.5	+	9	3972	c.3820G>C	c.(3820-3822)Gaa>Caa	p.E1274Q	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.E972Q|MSH6_ENST00000540021.1_Missense_Mutation_p.E1144Q	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1274					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGTAGAAAATGAATGTGAAGA	0.388			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											54.0	53.0	53.0					2																	48033609		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3820G>C	2.37:g.48033609G>C	ENSP00000234420:p.Glu1274Gln		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.E1274Q	ENST00000234420.5	37	c.3820	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551509	0.65311	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.86627	-2.15;-2.15;-2.15	6.03	6.03	0.97812	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92257	0.7544	L	0.49256	1.55	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.988;0.995	D	0.91849	0.5490	10	0.66056	D	0.02	-22.8692	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1144;1274	B4DF41;P52701	.;MSH6_HUMAN	Q	1274;238;1144;972	ENSP00000234420:E1274Q;ENSP00000446475:E1144Q;ENSP00000438580:E972Q	ENSP00000234420:E1274Q	E	+	1	0	MSH6	47887113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.861000	0.98227	0.655000	0.94253	GAA	MSH6	-	pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.388	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0.00	28	0	G	NM_000179		48033609	+1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	60.87	9	14	SNP	1.000	C
MTG1	92170	genome.wustl.edu	37	10	135212714	135212714	+	Missense_Mutation	SNP	G	G	T	rs540025351		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:135212714G>T	ENST00000317502.6	+	5	454	c.404G>T	c.(403-405)cGc>cTc	p.R135L	MTG1_ENST00000477902.2_Missense_Mutation_p.R94L|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.R140L	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	135	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R135H(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		AGAAGCCACCGCTACCACCGA	0.627																																																	1	Substitution - Missense(1)	large_intestine(1)											69.0	60.0	63.0					10																	135212714		2203	4300	6503	SO:0001583	missense	0				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.404G>T	10.37:g.135212714G>T	ENSP00000323047:p.Arg135Leu		Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF	p.R135L	ENST00000317502.6	37	c.404	CCDS31320.1	10	.	.	.	.	.	.	.	.	.	.	g	13.69	2.312187	0.40895	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.14144	2.53;2.53;2.53	4.58	3.68	0.42216	.	0.240601	0.43110	N	0.000607	T	0.37100	0.0991	M	0.87180	2.865	0.80722	D	1	D;P	0.59357	0.985;0.932	P;P	0.62560	0.904;0.621	T	0.33701	-0.9858	10	0.87932	D	0	0.1033	10.751	0.46209	0.096:0.0:0.904:0.0	.	135;135	E7EVK2;Q9BT17	.;MTG1_HUMAN	L	140;135;135;94	ENSP00000436767:R140L;ENSP00000323047:R135L;ENSP00000393480:R135L	ENSP00000323047:R135L	R	+	2	0	AL360181.1;MTG1	135062704	1.000000	0.71417	0.998000	0.56505	0.089000	0.18198	5.746000	0.68681	1.060000	0.40578	-0.158000	0.13435	CGC	MTG1	-	superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF	ENSG00000148824		0.627	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MTG1	HGNC	protein_coding	OTTHUMT00000051166.1		0.00	42	0	G	NM_138384		135212714	+1			no_errors	ENST00000317502	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T
MUC4	4585	genome.wustl.edu	37	3	195510227	195510228	+	Frame_Shift_Ins	INS	-	-	G	rs199812923		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:195510227_195510228insG	ENST00000463781.3	-	2	8682_8683	c.8223_8224insC	c.(8221-8226)gagactfs	p.T2742fs	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Ins_p.T2742fs|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGAGGAAGTCTCGGTGACAA	0.559																																																	0																																										SO:0001589	frameshift_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8223_8224insC	3.37:g.195510227_195510228insG	ENSP00000417498:p.Thr2742fs		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Ins	INS	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.T2741fs	ENST00000463781.3	37	c.8224_8223	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.559	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6		0.00	67	0	0	NM_018406		195510228	-1			no_errors	ENST00000463781	ensembl	human	known	74_37	frame_shift_ins	9.35	97	10	INS	0.000:0.000	G
MUC4	4585	genome.wustl.edu	37	3	195510962	195510962	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:195510962G>A	ENST00000463781.3	-	2	7948	c.7489C>T	c.(7489-7491)Ctt>Ttt	p.L2497F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L2497F|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGACGGGTGGTG	0.587																																																	0													82.0	69.0	73.0					3																	195510962		660	1591	2251	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7489C>T	3.37:g.195510962G>A	ENSP00000417498:p.Leu2497Phe		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L2497F	ENST00000463781.3	37	c.7489	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	4.347	0.063812	0.08388	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.39229	1.2;1.09	.	.	.	.	.	.	.	.	T	0.21590	0.0520	N	0.19112	0.55	0.09310	N	1	D	0.54964	0.969	B	0.41236	0.351	T	0.12578	-1.0542	7	.	.	.	.	3.4543	0.07510	0.2456:0.2622:0.4922:0.0	.	2497	E7ESK3	.	F	2497	ENSP00000417498:L2497F;ENSP00000420243:L2497F	.	L	-	1	0	MUC4	196995357	.	.	0.004000	0.12327	0.000000	0.00434	.	.	-0.437000	0.07243	0.000000	0.15137	CTT	MUC4	-	NULL	ENSG00000145113		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	-	0.00	377	0	G	NM_018406		195510962	-1	tier1	-	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	12.15	562	78	SNP	0.001	A
MYH11	4629	genome.wustl.edu	37	16	15835388	15835388	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:15835388G>A	ENST00000300036.5	-	22	2900	c.2791C>T	c.(2791-2793)Ctg>Ttg	p.L931L	MYH11_ENST00000576790.2_Silent_p.L931L|MYH11_ENST00000396324.3_Silent_p.L938L|MYH11_ENST00000452625.2_Silent_p.L938L|AF001548.6_ENST00000577048.1_RNA	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	931					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCTCCTCCAGGCGGGCCTCC	0.622			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													118.0	116.0	117.0					16																	15835388		2197	4300	6497	SO:0001819	synonymous_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2791C>T	16.37:g.15835388G>A			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.L938	ENST00000300036.5	37	c.2812	CCDS10565.1	16																																																																																			MYH11	-	NULL	ENSG00000133392		0.622	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	-	0.00	26	0	G	NM_001040113		15835388	-1	tier1	-	no_errors	ENST00000396324	ensembl	human	known	74_37	silent	62.16	14	23	SNP	0.997	A
MYLK	4638	genome.wustl.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs41431347|rs200371896	byFrequency	TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:123368043_123368044insG	ENST00000475616.1	-	22	4288		c.e22-2		MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000360772.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													?|GGGGGGGG|GGGGGGGGG|unsure	129	0.0257588	0.034	0.0303	5008	,	,		18148	0.0089		0.0348	False		,,,				2504	0.0194																0																																										SO:0001630	splice_region_variant	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4289-2->C	3.37:g.123368051_123368051dupG			B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Splice_Site	INS	-	e22-2	ENST00000475616.1	37	c.4289-3_4289-2	CCDS46896.1	3																																																																																			MYLK	-	-	ENSG00000065534		0.624	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1		0.00	12	0	-	NM_053025	Intron	123368044	-1	tier1		no_errors	ENST00000360304	ensembl	human	known	74_37	splice_site_ins	25.00	18	6	INS	0.975:0.100	G
MYO3A	53904	genome.wustl.edu	37	10	26417469	26417469	+	Splice_Site	SNP	T	T	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:26417469T>A	ENST00000265944.5	+	20	2428		c.e20+2		MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA						ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGGAACAGGTAAGTCTAAGT	0.323																																																	0													57.0	54.0	55.0					10																	26417469		2203	4300	6503	SO:0001630	splice_region_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2262+2T>A	10.37:g.26417469T>A			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Splice_Site	SNP	-	e18+2	ENST00000265944.5	37	c.2262+2	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	T	26.6	4.757520	0.89843	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO3A	26457475	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	8.040000	0.89188	2.291000	0.77112	0.533000	0.62120	.	MYO3A	-	-	ENSG00000095777		0.323	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	-	0.00	26	0	T	NM_017433	Intron	26417469	+1	tier1	-	no_errors	ENST00000265944	ensembl	human	known	74_37	splice_site	94.12	2	32	SNP	1.000	A
NDUFA10	4705	genome.wustl.edu	37	2	240954203	240954203	+	Missense_Mutation	SNP	C	C	T	rs200387097		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:240954203C>T	ENST00000252711.2	-	5	722	c.622G>A	c.(622-624)Gat>Aat	p.D208N	NDUFA10_ENST00000307300.4_Missense_Mutation_p.D248N|NDUFA10_ENST00000404554.1_Missense_Mutation_p.D208N	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	208					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		ACGGGCACATCGATGTAAATC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19131	0.001		0.0	False		,,,				2504	0.0																0								C	ASN/ASP	0,4406		0,0,2203	132.0	119.0	123.0		622	4.4	0.2	2		123	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NDUFA10	NM_004544.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	208/356	240954203	1,13005	2203	4300	6503	SO:0001583	missense	0			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.622G>A	2.37:g.240954203C>T	ENSP00000252711:p.Asp208Asn		Q8WXC9	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su	p.D208N	ENST00000252711.2	37	c.622	CCDS2531.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.06	3.291576	0.59976	0.0	1.16E-4	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000307300	D;D;D	0.96011	-3.88;-3.88;-3.88	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.97589	0.9210	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.957;1.0	D	0.98274	1.0505	10	0.72032	D	0.01	-35.0111	14.8948	0.70636	0.0:1.0:0.0:0.0	.	248;213;208	Q8WXC9;Q59FM0;O95299	.;.;NDUAA_HUMAN	N	208;208;208;248	ENSP00000252711:D208N;ENSP00000385697:D208N;ENSP00000302321:D248N	ENSP00000252711:D208N	D	-	1	0	NDUFA10	240602876	1.000000	0.71417	0.212000	0.23672	0.019000	0.09904	7.189000	0.77747	2.194000	0.70268	0.467000	0.42956	GAT	NDUFA10	-	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su	ENSG00000130414		0.507	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA10	HGNC	protein_coding	OTTHUMT00000257180.2		0.00	14	0	C	NM_004544		240954203	-1			no_errors	ENST00000252711	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.997	T
NEDD4L	23327	genome.wustl.edu	37	18	55996356	55996356	+	Silent	SNP	C	C	T	rs370529329		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr18:55996356C>T	ENST00000400345.3	+	10	1093	c.810C>T	c.(808-810)ccC>ccT	p.P270P	NEDD4L_ENST00000435432.2_Silent_p.P149P|NEDD4L_ENST00000357895.5_Silent_p.P262P|NEDD4L_ENST00000382850.4_Silent_p.P270P|NEDD4L_ENST00000456173.2_Silent_p.P149P|NEDD4L_ENST00000356462.6_Silent_p.P270P|NEDD4L_ENST00000586263.1_Silent_p.P262P|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_Silent_p.P149P|NEDD4L_ENST00000256832.7_Silent_p.P149P|NEDD4L_ENST00000456986.1_Silent_p.P149P|NEDD4L_ENST00000256830.9_Silent_p.P270P	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	270					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GGGATGTCCCCGAGGTACGAT	0.557																																																	0								T	,,,,,,,,	0,4006		0,0,2003	24.0	28.0	26.0		447,447,447,810,786,786,447,447,810	-11.9	0.1	18		26	1,8329		0,1,4164	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEDD4L	NM_001144964.1,NM_001144965.1,NM_001144966.2,NM_001144967.2,NM_001144968.1,NM_001144969.1,NM_001144970.2,NM_001144971.1,NM_015277.5	,,,,,,,,	0,1,6167	TT,TC,CC		0.012,0.0,0.0081	,,,,,,,,	149/855,149/855,149/855,270/976,262/968,262/948,149/835,149/835,270/956	55996356	1,12335	2003	4165	6168	SO:0001819	synonymous_variant	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.810C>T	18.37:g.55996356C>T			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom	p.P270	ENST00000400345.3	37	c.810	CCDS45872.1	18																																																																																			NEDD4L	-	NULL	ENSG00000049759		0.557	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	-	0.00	10	0	C			55996356	+1	tier1	-	no_errors	ENST00000400345	ensembl	human	known	74_37	silent	50.00	5	5	SNP	0.066	T
NFE2L2	4780	genome.wustl.edu	37	2	178098909	178098909	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:178098909A>G	ENST00000397062.3	-	2	690	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	NFE2L2_ENST00000446151.2_Missense_Mutation_p.Y30H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.Y30H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.Y30H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.Y30H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	46					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)			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)			TCCAGCTCATACTCTTTCCGT	0.378			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													112.0	103.0	105.0					2																	178098909		1849	4097	5946	SO:0001583	missense	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.136T>C	2.37:g.178098909A>G	ENSP00000380252:p.Tyr46His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.Y46H	ENST00000397062.3	37	c.136	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767855	0.49680	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.78	3.3	0.37823	.	0.366945	0.32287	N	0.006320	T	0.09774	0.0240	N	0.03016	-0.435	0.30172	N	0.801217	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.06405	0.0;0.002;0.001;0.0	T	0.16837	-1.0389	10	0.13470	T	0.59	.	3.6783	0.08301	0.5893:0.0:0.2417:0.169	.	30;30;30;46	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	30;46;30;30;30;30;30	ENSP00000380253:Y30H;ENSP00000380252:Y46H;ENSP00000411575:Y30H;ENSP00000391590:Y30H;ENSP00000400073:Y30H;ENSP00000412191:Y30H;ENSP00000410015:Y30H	ENSP00000380252:Y46H	Y	-	1	0	NFE2L2	177807155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.152000	0.50677	1.173000	0.42796	0.460000	0.39030	TAT	NFE2L2	-	NULL	ENSG00000116044		0.378	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0.00	66	0	A	NM_006164		178098909	-1			no_errors	ENST00000397062	ensembl	human	known	74_37	missense	21.67	47	13	SNP	1.000	G
NFE2L2	4780	genome.wustl.edu	37	2	178098912	178098912	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:178098912C>T	ENST00000397062.3	-	2	687	c.133G>A	c.(133-135)Gag>Aag	p.E45K	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E29K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E29K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E29K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E29K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	45					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)			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)			AGCTCATACTCTTTCCGTCGC	0.383			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													109.0	100.0	103.0					2																	178098912		1845	4096	5941	SO:0001583	missense	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.133G>A	2.37:g.178098912C>T	ENSP00000380252:p.Glu45Lys		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E45K	ENST00000397062.3	37	c.133	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806584	0.90623	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.67	5.67	0.87782	.	0.141893	0.64402	D	0.000006	T	0.45256	0.1333	M	0.72894	2.215	0.58432	D	0.999999	D;P;P;D	0.56035	0.974;0.518;0.948;0.974	P;B;P;P	0.47981	0.563;0.129;0.526;0.563	T	0.46105	-0.9215	10	0.59425	D	0.04	.	19.7584	0.96304	0.0:1.0:0.0:0.0	.	29;29;29;45	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	29;45;29;29;29;29;29	ENSP00000380253:E29K;ENSP00000380252:E45K;ENSP00000411575:E29K;ENSP00000391590:E29K;ENSP00000400073:E29K;ENSP00000412191:E29K;ENSP00000410015:E29K	ENSP00000380252:E45K	E	-	1	0	NFE2L2	177807158	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.419000	0.80179	2.681000	0.91329	0.563000	0.77884	GAG	NFE2L2	-	NULL	ENSG00000116044		0.383	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0.00	65	0	C	NM_006164		178098912	-1			no_errors	ENST00000397062	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
NINL	22981	genome.wustl.edu	37	20	25462723	25462723	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr20:25462723C>T	ENST00000278886.6	-	14	1764	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	NINL_ENST00000422516.1_Missense_Mutation_p.R564H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	564					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTCATCGTTGCGGTCCTGCAG	0.687																																																	0													38.0	39.0	39.0					20																	25462723		2203	4300	6503	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1691G>A	20.37:g.25462723C>T	ENSP00000278886:p.Arg564His		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R564H	ENST00000278886.6	37	c.1691	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	8.074	0.770996	0.15983	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.37235	1.42;1.21	4.73	-2.18	0.07037	.	0.619946	0.14670	N	0.305386	T	0.28466	0.0704	L	0.48642	1.525	0.09310	N	1	B;B	0.18013	0.025;0.016	B;B	0.09377	0.004;0.001	T	0.20505	-1.0273	10	0.54805	T	0.06	-0.4622	11.3351	0.49498	0.0:0.3172:0.0:0.6828	.	564;564	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	H	564	ENSP00000278886:R564H;ENSP00000410431:R564H	ENSP00000278886:R564H	R	-	2	0	NINL	25410723	0.002000	0.14202	0.007000	0.13788	0.489000	0.33432	-0.830000	0.04410	-0.568000	0.06038	0.555000	0.69702	CGC	NINL	-	NULL	ENSG00000101004		0.687	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	-	0.00	48	0	C	NM_025176		25462723	-1	tier1	-	no_errors	ENST00000278886	ensembl	human	known	74_37	missense	24.07	82	26	SNP	0.007	T
NPBWR2	2832	genome.wustl.edu	37	20	62737818	62737818	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr20:62737818C>T	ENST00000369768.1	-	1	706	c.367G>A	c.(367-369)Gtc>Atc	p.V123I		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	123					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TAGTGGTCGACGGCCAGCACC	0.632																																																	0													42.0	36.0	38.0					20																	62737818		2202	4299	6501	SO:0001583	missense	0			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.367G>A	20.37:g.62737818C>T	ENSP00000358783:p.Val123Ile		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.V123I	ENST00000369768.1	37	c.367	CCDS13557.1	20	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.166277	0.00318	.	.	ENSG00000125522	ENST00000369768	T	0.36699	1.24	3.9	-2.16	0.07080	GPCR, rhodopsin-like superfamily (1);	0.218004	0.35525	N	0.003152	T	0.11750	0.0286	N	0.04018	-0.295	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35699	-0.9778	10	0.02654	T	1	.	9.9311	0.41523	0.0:0.4379:0.0:0.5621	.	123	P48146	NPBW2_HUMAN	I	123	ENSP00000358783:V123I	ENSP00000358783:V123I	V	-	1	0	NPBWR2	62208262	0.485000	0.25972	0.023000	0.16930	0.062000	0.15995	0.761000	0.26489	-0.323000	0.08602	-0.573000	0.04149	GTC	NPBWR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt	ENSG00000125522		0.632	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	HGNC	protein_coding	OTTHUMT00000080300.1	-	0.00	38	0	C	NM_005286		62737818	-1	tier1	-	no_errors	ENST00000369768	ensembl	human	known	74_37	missense	33.93	37	19	SNP	0.164	T
NRROS	375387	genome.wustl.edu	37	3	196387351	196387351	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:196387351G>A	ENST00000328557.4	+	3	1040	c.837G>A	c.(835-837)ctG>ctA	p.L279L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	279					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CCCTCCTGCTGCGCGACAACA	0.617																																																	0													107.0	107.0	107.0					3																	196387351		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.837G>A	3.37:g.196387351G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L279	ENST00000328557.4	37	c.837	CCDS3319.1	3																																																																																			NRROS	-	NULL	ENSG00000174004		0.617	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRROS	HGNC	protein_coding	OTTHUMT00000340676.1	-	0.00	37	0	G	NM_198565		196387351	+1	tier1	-	no_errors	ENST00000328557	ensembl	human	known	74_37	silent	54.90	23	28	SNP	0.024	A
NUDT10	170685	genome.wustl.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)												8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)											52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	0			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E69	ENST00000376006.3	37	c.207	CCDS35278.1	X																																																																																			NUDT10	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000122824		0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	HGNC	protein_coding	OTTHUMT00000056578.1		0.00	30	0	G	NM_153183		51076024	+1			no_errors	ENST00000356450	ensembl	human	known	74_37	silent	11.11	32	4	SNP	1.000	A
OR2C3	81472	genome.wustl.edu	37	1	247695347	247695347	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:247695347G>T	ENST00000366487.3	-	2	828	c.467C>A	c.(466-468)aCc>aAc	p.T156N	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CACCATGCTGGTGGTCAGACC	0.567																																																	0													49.0	48.0	48.0					1																	247695347		2203	4300	6503	SO:0001583	missense	0			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.467C>A	1.37:g.247695347G>T	ENSP00000355443:p.Thr156Asn		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T156N	ENST00000366487.3	37	c.467	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.299331	0.01364	.	.	ENSG00000196242	ENST00000366487	T	0.37058	1.22	3.89	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.196218	0.24688	U	0.036411	T	0.07234	0.0183	N	0.00325	-1.645	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.40040	-0.9584	10	0.02654	T	1	.	6.6281	0.22841	0.0995:0.0:0.724:0.1765	.	156	Q8N628	OR2C3_HUMAN	N	156	ENSP00000355443:T156N	ENSP00000355443:T156N	T	-	2	0	OR2C3	245761970	0.000000	0.05858	0.087000	0.20705	0.975000	0.68041	-1.445000	0.02401	0.393000	0.25203	0.650000	0.86243	ACC	OR2C3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196242		0.567	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2		0.00	25	0	G	NM_198074		247695347	-1			no_errors	ENST00000366487	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.001	T
OR14K1	343170	genome.wustl.edu	37	1	247902646	247902646	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:247902646A>G	ENST00000283225.2	+	1	730	c.730A>G	c.(730-732)Att>Gtt	p.I244V	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GCCTCACCTCATTGTTGTCAC	0.418																																																	0													152.0	141.0	145.0					1																	247902646		2003	4170	6173	SO:0001583	missense	0			BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.730A>G	1.37:g.247902646A>G	ENSP00000283225:p.Ile244Val		A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I244V	ENST00000283225.2	37	c.730		1	.	.	.	.	.	.	.	.	.	.	A	7.185	0.590404	0.13812	.	.	ENSG00000153230	ENST00000283225	T	0.36520	1.25	3.9	-3.41	0.04839	.	1.783640	0.04264	N	0.340931	T	0.12902	0.0313	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.12016	-1.0564	7	0.08599	T	0.76	.	1.9454	0.03355	0.3626:0.1415:0.3578:0.1381	.	.	.	.	V	244	ENSP00000283225:I244V	ENSP00000283225:I244V	I	+	1	0	OR14K1	245969269	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	-0.717000	0.04986	-1.015000	0.03375	0.496000	0.49642	ATT	OR14K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000153230		0.418	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	OR14K1	HGNC	protein_coding	OTTHUMT00000096868.1	-	0.00	40	0	A	NM_001004732		247902646	+1	tier1	-	no_errors	ENST00000283225	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.000	G
OR52N5	390075	genome.wustl.edu	37	11	5799447	5799447	+	Missense_Mutation	SNP	G	G	A	rs372227128		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:5799447G>A	ENST00000317093.2	-	1	450	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R140C(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GTAGCATAACGCAAAGGGTAG	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)						G	CYS/ARG	1,4255		0,1,2127	135.0	108.0	117.0		418	3.7	0.0	11		117	0,8180		0,0,4090	no	missense	OR52N5	NM_001001922.2	180	0,1,6217	AA,AG,GG		0.0,0.0235,0.0080	possibly-damaging	140/325	5799447	1,12435	2128	4090	6218	SO:0001583	missense	0			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.418C>T	11.37:g.5799447G>A	ENSP00000322866:p.Arg140Cys		B9EH12|Q6IFG2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.R140C	ENST00000317093.2	37	c.418	CCDS31397.1	11	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489171	0.26686	2.35E-4	0.0	ENSG00000181009	ENST00000317093	T	0.00922	5.54	3.7	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27294	U	0.020040	T	0.01976	0.0062	M	0.84585	2.705	0.34128	D	0.664917	B	0.22983	0.078	B	0.18561	0.022	T	0.01940	-1.1243	10	0.72032	D	0.01	.	8.957	0.35823	0.0:0.0:0.6584:0.3416	.	140	Q8NH56	O52N5_HUMAN	C	140	ENSP00000322866:R140C	ENSP00000322866:R140C	R	-	1	0	OR52N5	5756023	0.000000	0.05858	0.045000	0.18777	0.717000	0.41224	0.438000	0.21559	2.066000	0.61787	0.494000	0.49563	CGT	OR52N5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181009		0.502	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1	-	0.00	25	0	G	NM_001001922		5799447	-1	tier1	-	no_errors	ENST00000317093	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.861	A
OR5H6	79295	genome.wustl.edu	37	3	97983602	97983602	+	Silent	SNP	T	T	C	rs75354046	byFrequency	TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:97983602T>C	ENST00000383696.2	+	1	515	c.474T>C	c.(472-474)atT>atC	p.I158I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACTATGCATTCAGCTATTAG	0.358																																																	0													109.0	102.0	104.0					3																	97983602		2203	4299	6502	SO:0001819	synonymous_variant	0			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.474T>C	3.37:g.97983602T>C			Q6IF88	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I158	ENST00000383696.2	37	c.474	CCDS33800.1	3																																																																																			OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000230301		0.358	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	-	0.00	57	0	T			97983602	+1	tier1	rs75354046	no_errors	ENST00000383696	ensembl	human	known	74_37	silent	8.64	73	7	SNP	0.000	C
OR8D4	338662	genome.wustl.edu	37	11	123777707	123777707	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:123777707C>T	ENST00000321355.2	+	1	599	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S190Y(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCTCCTGCTCCAGCACTTAT	0.373																																																	1	Substitution - Missense(1)	lung(1)											166.0	173.0	170.0					11																	123777707		2202	4299	6501	SO:0001583	missense	0			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.569C>T	11.37:g.123777707C>T	ENSP00000325381:p.Ser190Phe		Q6IFE9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S190F	ENST00000321355.2	37	c.569	CCDS31698.1	11	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615166	0.28712	.	.	ENSG00000181518	ENST00000321355	T	0.00253	8.43	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.152045	0.30602	N	0.009273	T	0.00967	0.0032	H	0.94345	3.525	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.30966	-0.9960	10	0.87932	D	0	.	18.4525	0.90709	0.0:1.0:0.0:0.0	.	190	Q8NGM9	OR8D4_HUMAN	F	190	ENSP00000325381:S190F	ENSP00000325381:S190F	S	+	2	0	OR8D4	123282917	0.000000	0.05858	0.970000	0.41538	0.233000	0.25261	0.091000	0.15046	2.642000	0.89623	0.655000	0.94253	TCC	OR8D4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181518		0.373	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	HGNC	protein_coding	OTTHUMT00000387262.1		0.00	38	0	C	NM_001005197		123777707	+1			no_errors	ENST00000321355	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.006	T
OR9A4	130075	genome.wustl.edu	37	7	141619217	141619217	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:141619217G>C	ENST00000548136.1	+	1	601	c.542G>C	c.(541-543)cGa>cCa	p.R181P	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R181L(1)|p.R181Q(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTTTGTGACCGAGGGCAATTG	0.383																																																	2	Substitution - Missense(2)	lung(2)											158.0	158.0	158.0					7																	141619217		2070	4246	6316	SO:0001583	missense	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.542G>C	7.37:g.141619217G>C	ENSP00000448789:p.Arg181Pro		B9EGV6|Q6IFI4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R181P	ENST00000548136.1	37	c.542	CCDS43661.1	7	.	.	.	.	.	.	.	.	.	.	.	12.28	1.890033	0.33348	.	.	ENSG00000258083	ENST00000548136	T	0.35605	1.3	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.37320	0.0999	L	0.31578	0.945	0.29877	N	0.826324	P	0.47350	0.894	P	0.54210	0.745	T	0.13019	-1.0525	9	0.38643	T	0.18	-4.9263	8.9047	0.35517	0.0:0.0:0.7774:0.2226	.	181	Q8NGU2	OR9A4_HUMAN	P	181	ENSP00000448789:R181P	ENSP00000386148:R181P	R	+	2	0	OR9A4	141265686	0.000000	0.05858	1.000000	0.80357	0.555000	0.35460	0.296000	0.19083	2.121000	0.65114	0.655000	0.94253	CGA	OR9A4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000258083		0.383	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A4	HGNC	protein_coding	OTTHUMT00000350806.3	-	0.00	27	0	G	NM_001001656		141619217	+1	tier1	-	no_errors	ENST00000548136	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.995	C
PDCD4	27250	genome.wustl.edu	37	10	112650500	112650500	+	Intron	SNP	C	C	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:112650500C>G	ENST00000280154.7	+	8	1264				PDCD4_ENST00000393104.2_Intron|PDCD4_ENST00000481353.1_Intron	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)						apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGGCTACTAGCTGGTATTTTT	0.279																																					Ovarian(115;1498 1603 9363 40056 40885)												0																																										SO:0001627	intron_variant	0			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.990+72C>G	10.37:g.112650500C>G			B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	RNA	SNP	-	NULL	ENST00000280154.7	37	NULL	CCDS7567.1	10																																																																																			PDCD4	-	-	ENSG00000150593		0.279	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD4	HGNC	protein_coding	OTTHUMT00000050361.1	-	0.00	25	0	C	NM_014456		112650500	+1	tier1	-	no_errors	ENST00000489049	ensembl	human	known	74_37	rna	79.25	11	42	SNP	0.000	G
PENK	5179	genome.wustl.edu	37	8	57358329	57358329	+	Intron	SNP	A	A	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:57358329A>G	ENST00000314922.3	-	1	215				PENK_ENST00000523051.1_Intron|PENK_ENST00000523274.1_5'Flank|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000451791.2_Intron|PENK_ENST00000518770.1_Missense_Mutation_p.F62L	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin						aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TGTTGCGGAAACTCTGTCTCA	0.692																																																	0													39.0	40.0	40.0					8																	57358329		2202	4300	6502	SO:0001627	intron_variant	0				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.138+45T>C	8.37:g.57358329A>G			B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Proenkphlin_A	p.F62L	ENST00000314922.3	37	c.184	CCDS6168.1	8	.	.	.	.	.	.	.	.	.	.	A	0.527	-0.859414	0.02610	.	.	ENSG00000181195	ENST00000518770	.	.	.	1.43	1.43	0.22495	.	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35798	-0.9774	7	0.02654	T	1	.	3.1594	0.06515	0.769:0.0:0.231:0.0	.	62	E5RJ72	.	L	62	.	ENSP00000430592:F62L	F	-	1	0	PENK	57520883	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.053000	0.11846	0.940000	0.37473	0.455000	0.32223	TTT	PENK	-	NULL	ENSG00000181195		0.692	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	HGNC	protein_coding	OTTHUMT00000378645.1	-	0.00	34	0	A			57358329	-1	tier1	-	no_errors	ENST00000518770	ensembl	human	putative	74_37	missense	27.37	69	26	SNP	0.001	G
PFAS	5198	genome.wustl.edu	37	17	8160282	8160282	+	Splice_Site	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:8160282G>T	ENST00000314666.6	+	9	1208		c.e9+1		PFAS_ENST00000545834.1_Splice_Site	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CATATTCCAGGTTCCATCTCC	0.567																																																	0													95.0	95.0	95.0					17																	8160282		2203	4300	6503	SO:0001630	splice_region_variant	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1075+1G>T	17.37:g.8160282G>T			A6H8V8	Splice_Site	SNP	-	e8+1	ENST00000314666.6	37	c.1075+1	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148637	0.37923	.	.	ENSG00000178921	ENST00000314666	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7166	0.88338	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFAS	8101007	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	8.643000	0.91040	2.789000	0.95967	0.655000	0.94253	.	PFAS	-	-	ENSG00000178921		0.567	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2		0.00	22	0	G		Intron	8160282	+1			no_errors	ENST00000314666	ensembl	human	known	74_37	splice_site	7.41	50	4	SNP	1.000	T
PI4K2B	55300	genome.wustl.edu	37	4	25262150	25262150	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr4:25262150G>T	ENST00000264864.6	+	6	1104	c.915G>T	c.(913-915)agG>agT	p.R305S	PI4K2B_ENST00000512921.1_Missense_Mutation_p.R209S	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	305	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TGAAAGACAGGGGCAATGATA	0.294																																																	0													115.0	124.0	121.0					4																	25262150		2203	4299	6502	SO:0001583	missense	0			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.915G>T	4.37:g.25262150G>T	ENSP00000264864:p.Arg305Ser		Q9NUW2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom	p.R305S	ENST00000264864.6	37	c.915	CCDS3433.1	4	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484187	0.63962	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	D;D	0.98914	-5.23;-5.23	5.76	3.13	0.36017	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.046975	0.85682	D	0.000000	D	0.99152	0.9707	H	0.97806	4.08	0.80722	D	1	P	0.50156	0.932	P	0.59221	0.854	D	0.98245	1.0490	10	0.87932	D	0	-8.3356	4.4678	0.11698	0.3696:0.0:0.4877:0.1428	.	305	Q8TCG2	P4K2B_HUMAN	S	209;305;274	ENSP00000423373:R209S;ENSP00000264864:R305S	ENSP00000264864:R305S	R	+	3	2	PI4K2B	24871248	0.996000	0.38824	1.000000	0.80357	0.953000	0.61014	0.342000	0.19926	0.466000	0.27193	0.650000	0.86243	AGG	PI4K2B	-	pfam_PI3/4_kinase_cat_dom	ENSG00000038210		0.294	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2B	HGNC	protein_coding	OTTHUMT00000250415.1		0.00	25	0	G	NM_018323		25262150	+1			no_errors	ENST00000264864	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.998	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	19	0	A			178952085	+1	tier1	rs121913279	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	54.55	10	12	SNP	1.000	T
PRDX1	5052	genome.wustl.edu	37	1	45980307	45980307	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:45980307C>T	ENST00000262746.1	-	5	725	c.386G>A	c.(385-387)gGc>gAc	p.G129D	PRDX1_ENST00000483583.1_5'Flank|PRDX1_ENST00000319248.8_Missense_Mutation_p.G129D|PRDX1_ENST00000372079.1_Missense_Mutation_p.G27D	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GATAAAAAGGCCCCTGGGAAA	0.453																																																	0													86.0	86.0	86.0					1																	45980307		2203	4300	6503	SO:0001583	missense	0			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.386G>A	1.37:g.45980307C>T	ENSP00000262746:p.Gly129Asp		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.G129D	ENST00000262746.1	37	c.386	CCDS522.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.425062	0.96131	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079;ENST00000447184;ENST00000424390	T;T;T;T;T	0.30714	1.52;1.52;2.46;1.52;1.52	5.93	5.93	0.95920	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79981	-0.1574	10	0.87932	D	0	-14.8522	20.3495	0.98807	0.0:1.0:0.0:0.0	.	129	Q06830	PRDX1_HUMAN	D	129;129;27;129;129	ENSP00000262746:G129D;ENSP00000361152:G129D;ENSP00000361150:G27D;ENSP00000407034:G129D;ENSP00000389047:G129D	ENSP00000262746:G129D	G	-	2	0	PRDX1	45752894	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.536000	0.82023	2.814000	0.96858	0.591000	0.81541	GGC	PRDX1	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000117450		0.453	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX1	HGNC	protein_coding	OTTHUMT00000020845.1	-	0.00	19	0	C	NM_181697		45980307	-1	tier1	-	no_errors	ENST00000262746	ensembl	human	known	74_37	missense	42.11	11	8	SNP	1.000	T
PRKCSH	5589	genome.wustl.edu	37	19	11548711	11548711	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:11548711C>T	ENST00000589838.1	+	3	211	c.211C>T	c.(211-213)Cct>Tct	p.P71S	PRKCSH_ENST00000591462.1_Missense_Mutation_p.P71S|CCDC151_ENST00000356392.4_5'Flank|snoU13_ENST00000459022.1_RNA|PRKCSH_ENST00000587327.1_Missense_Mutation_p.P71S|CCDC151_ENST00000586836.1_5'Flank|CCDC151_ENST00000591179.1_5'Flank|PRKCSH_ENST00000412601.1_Missense_Mutation_p.P71S|PRKCSH_ENST00000252455.2_Missense_Mutation_p.P71S|CCDC151_ENST00000545100.1_5'Flank|PRKCSH_ENST00000592741.1_Missense_Mutation_p.P71S			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	71					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GGCTGCCTGTCCTAATGGCAG	0.552																																																	0													83.0	80.0	81.0					19																	11548711		2203	4300	6503	SO:0001583	missense	0				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.211C>T	19.37:g.11548711C>T	ENSP00000465461:p.Pro71Ser		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom	p.P71S	ENST00000589838.1	37	c.211	CCDS32911.1	19	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330903	0.60853	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.70282	-0.47;-0.47	4.28	4.28	0.50868	.	0.060531	0.64402	D	0.000002	T	0.64670	0.2619	N	0.21448	0.665	0.80722	D	1	D;B;P	0.54772	0.968;0.256;0.945	P;B;P	0.51582	0.674;0.223;0.674	T	0.62923	-0.6751	10	0.27785	T	0.31	-14.0108	13.6533	0.62323	0.0:1.0:0.0:0.0	.	71;71;71	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	S	71	ENSP00000252455:P71S;ENSP00000395616:P71S	ENSP00000252455:P71S	P	+	1	0	PRKCSH	11409711	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	5.342000	0.65970	1.937000	0.56155	0.561000	0.74099	CCT	PRKCSH	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000130175		0.552	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKCSH	HGNC	protein_coding	OTTHUMT00000458817.1	-	0.00	33	0	C			11548711	+1	tier1	-	no_errors	ENST00000252455	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	T
PSTK	118672	genome.wustl.edu	37	10	124740046	124740046	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:124740046A>T	ENST00000368887.3	+	1	491	c.51A>T	c.(49-51)aaA>aaT	p.K17N	PSTK_ENST00000405485.1_Missense_Mutation_p.K17N	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	17					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GGCCGCGGAAACGAGGCCTCT	0.692											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	0			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.51A>T	10.37:g.124740046A>T	ENSP00000357882:p.Lys17Asn	1536	Q6ZSS9	Missense_Mutation	SNP	pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,tigrfam_L-seryl-tRNA_Sec_kinase_euk	p.K17N	ENST00000368887.3	37	c.51	CCDS7633.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.99|13.99	2.401197|2.401197	0.42613|0.42613	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000368887;ENST00000405485|ENST00000406217	T;T|.	0.48836|.	0.89;0.8|.	4.31|4.31	1.33|1.33	0.21861|0.21861	.|.	0.491185|.	0.20500|.	N|.	0.091103|.	T|T	0.35158|0.35158	0.0922|0.0922	L|L	0.39397|0.39397	1.21|1.21	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.12156|.	0.007|.	T|T	0.24799|0.24799	-1.0150|-1.0150	10|5	0.59425|.	D|.	0.04|.	-6.6591|-6.6591	7.8226|7.8226	0.29296|0.29296	0.2995:0.0:0.7005:0.0|0.2995:0.0:0.7005:0.0	.|.	17|.	Q8IV42|.	PSTK_HUMAN|.	N|I	17|18	ENSP00000357882:K17N;ENSP00000384764:K17N|.	ENSP00000357882:K17N|.	K|N	+|+	3|2	2|0	PSTK|PSTK	124730036|124730036	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.446000|0.446000	0.21694|0.21694	0.088000|0.088000	0.17205|0.17205	-0.242000|-0.242000	0.12053|0.12053	AAA|AAC	PSTK	-	superfamily_P-loop_NTPase	ENSG00000179988		0.692	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTK	HGNC	protein_coding	OTTHUMT00000050811.1	-	0.00	12	0	A	NM_153336		124740046	+1	tier1	-	no_errors	ENST00000368887	ensembl	human	known	74_37	missense	96.00	1	24	SNP	0.001	T
PTCH1	5727	genome.wustl.edu	37	9	98231241	98231241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr9:98231241delG	ENST00000331920.6	-	14	2341	c.2042delC	c.(2041-2043)ccgfs	p.P681fs	PTCH1_ENST00000421141.1_Frame_Shift_Del_p.P530fs|PTCH1_ENST00000437951.1_Frame_Shift_Del_p.P615fs|PTCH1_ENST00000375274.2_Frame_Shift_Del_p.P680fs|PTCH1_ENST00000418258.1_Frame_Shift_Del_p.P530fs|PTCH1_ENST00000430669.2_Frame_Shift_Del_p.P615fs|PTCH1_ENST00000429896.2_Frame_Shift_Del_p.P530fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	681					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.P681L(3)|p.P680L(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTCGGAGCGCGGCTCAGCGGT	0.622																																																	5	Substitution - Missense(5)	large_intestine(4)|skin(1)											145.0	135.0	138.0					9																	98231241		2203	4300	6503	SO:0001589	frameshift_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2042delC	9.37:g.98231241delG	ENSP00000332353:p.Pro681fs		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Del	DEL	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.P681fs	ENST00000331920.6	37	c.2042	CCDS6714.1	9																																																																																			PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.622	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0.00	40	0	G	NM_000264		98231241	-1	tier1		no_errors	ENST00000331920	ensembl	human	known	74_37	frame_shift_del	89.13	5	41	DEL	1.000	-
PTCH2	8643	genome.wustl.edu	37	1	45294908	45294908	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:45294908delA	ENST00000372192.3	-	10	1422	c.1292delT	c.(1291-1293)ctgfs	p.L432fs	PTCH2_ENST00000447098.2_Frame_Shift_Del_p.L432fs	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	432	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCCACCAGCAGTACCCCGGC	0.667									Basal Cell Nevus syndrome																																								0													28.0	30.0	29.0					1																	45294908		2203	4299	6502	SO:0001589	frameshift_variant	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1292delT	1.37:g.45294908delA	ENSP00000361266:p.Leu432fs		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Frame_Shift_Del	DEL	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L431fs	ENST00000372192.3	37	c.1292	CCDS516.1	1																																																																																			PTCH2	-	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	ENSG00000117425		0.667	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4		0.00	25	0	A	NM_003738		45294908	-1	tier1		no_errors	ENST00000372192	ensembl	human	known	74_37	frame_shift_del	31.58	13	6	DEL	1.000	-
RBBP5	5929	genome.wustl.edu	37	1	205069382	205069382	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:205069382G>T	ENST00000264515.6	-	7	791	c.650C>A	c.(649-651)aCg>aAg	p.T217K	RBBP5_ENST00000367164.1_Missense_Mutation_p.T217K	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	217					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.T217M(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TCGATCTGCCGTGTTAATTAA	0.378																																																	1	Substitution - Missense(1)	ovary(1)											85.0	75.0	78.0					1																	205069382		2203	4300	6503	SO:0001583	missense	0			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.650C>A	1.37:g.205069382G>T	ENSP00000264515:p.Thr217Lys		A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T217K	ENST00000264515.6	37	c.650	CCDS30983.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.182964	0.94885	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.22336	1.96;1.96	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	M	0.78916	2.43	0.80722	D	1	D;D;D;P	0.67145	0.996;0.988;0.992;0.955	D;P;P;P	0.65233	0.933;0.89;0.807;0.559	T	0.49960	-0.8883	10	0.87932	D	0	.	19.4914	0.95050	0.0:0.0:1.0:0.0	.	90;252;217;217	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	K	217	ENSP00000264515:T217K;ENSP00000356132:T217K	ENSP00000264515:T217K	T	-	2	0	RBBP5	203336005	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.554000	0.98121	2.771000	0.95319	0.563000	0.77884	ACG	RBBP5	-	smart_WD40_repeat	ENSG00000117222		0.378	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP5	HGNC	protein_coding	OTTHUMT00000090077.1		0.00	13	0	G	NM_005057		205069382	-1			no_errors	ENST00000264515	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T
ROBO2	6092	genome.wustl.edu	37	3	77681788	77681788	+	Intron	SNP	A	A	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:77681788A>C	ENST00000461745.1	+	24	4660				ROBO2_ENST00000487694.3_Intron|ROBO2_ENST00000332191.8_Silent_p.G1308G	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCTGGATGGAACCAGCCTTA	0.483																																																	0																																										SO:0001627	intron_variant	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3761-2233A>C	3.37:g.77681788A>C			O43608|Q19AB4|Q19AB5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1308	ENST00000461745.1	37	c.3924	CCDS43109.1	3																																																																																			ROBO2	-	NULL	ENSG00000185008		0.483	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0.00	34	0	A	XM_031246		77681788	+1	tier1	-	no_errors	ENST00000332191	ensembl	human	novel	74_37	silent	68.18	7	15	SNP	1.000	C
RRS1	23212	genome.wustl.edu	37	8	67342179	67342179	+	Silent	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:67342179G>T	ENST00000320270.2	+	1	917	c.813G>T	c.(811-813)ctG>ctT	p.L271L	RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000396623.3_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|ADHFE1_ENST00000415254.1_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	271					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGTTGGAGCTGCTTCGTGTCA	0.572																																																	0													26.0	30.0	29.0					8																	67342179		2202	4300	6502	SO:0001819	synonymous_variant	0			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.813G>T	8.37:g.67342179G>T			Q9BUX8	Silent	SNP	pfam_Ribosom_reg	p.L271	ENST00000320270.2	37	c.813	CCDS6189.1	8																																																																																			RRS1	-	NULL	ENSG00000179041		0.572	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRS1	HGNC	protein_coding	OTTHUMT00000380126.1	-	0.00	15	0	G	NM_015169		67342179	+1	tier1	-	no_errors	ENST00000320270	ensembl	human	known	74_37	silent	45.95	20	17	SNP	0.991	T
RTN1	6252	genome.wustl.edu	37	14	60212626	60212626	+	Missense_Mutation	SNP	C	C	G	rs77180956	byFrequency	TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr14:60212626C>G	ENST00000267484.5	-	2	1150	c.815G>C	c.(814-816)cGc>cCc	p.R272P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	272					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGGAGCCCTGCGCTGTTCTTC	0.463																																																	0													137.0	132.0	134.0					14																	60212626		2203	4300	6503	SO:0001583	missense	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.815G>C	14.37:g.60212626C>G	ENSP00000267484:p.Arg272Pro		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.R272P	ENST00000267484.5	37	c.815	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	C	9.018	0.984266	0.18889	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.22743	1.94	5.53	-4.01	0.04045	.	0.569080	0.18052	N	0.153259	T	0.07413	0.0187	N	0.14661	0.345	0.09310	N	1	B	0.31100	0.308	B	0.29942	0.109	T	0.17806	-1.0357	10	0.37606	T	0.19	.	0.7013	0.00908	0.2293:0.136:0.2366:0.3981	.	272	Q16799	RTN1_HUMAN	P	272;198	ENSP00000267484:R272P	ENSP00000267484:R272P	R	-	2	0	RTN1	59282379	0.000000	0.05858	0.001000	0.08648	0.546000	0.35178	-0.128000	0.10531	-0.248000	0.09583	-0.661000	0.03856	CGC	RTN1	-	NULL	ENSG00000139970		0.463	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	-	0.00	37	0	C			60212626	-1	tier1	-	no_errors	ENST00000267484	ensembl	human	known	74_37	missense	60.47	16	26	SNP	0.001	G
SALL1	6299	genome.wustl.edu	37	16	51173264	51173264	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:51173264C>A	ENST00000251020.4	-	2	2902	c.2869G>T	c.(2869-2871)Gcc>Tcc	p.A957S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.A860S|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	957					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|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 (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAACCATTGGCAAACTCGCTT	0.517																																					GBM(103;1352 1446 1855 4775 8890)												0													67.0	52.0	57.0					16																	51173264		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2869G>T	16.37:g.51173264C>A	ENSP00000251020:p.Ala957Ser		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A957S	ENST00000251020.4	37	c.2869	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	4.140	0.024245	0.08006	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.81247	-1.47;-1.47	5.46	5.46	0.80206	.	0.103371	0.64402	D	0.000002	T	0.53753	0.1816	N	0.02916	-0.46	0.40179	D	0.977268	B	0.14012	0.009	B	0.09377	0.004	T	0.55780	-0.8087	10	0.06236	T	0.91	.	9.9031	0.41359	0.0:0.8486:0.0:0.1514	.	957	Q9NSC2	SALL1_HUMAN	S	957;860;921	ENSP00000251020:A957S;ENSP00000407914:A860S	ENSP00000251020:A957S	A	-	1	0	SALL1	49730765	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	3.849000	0.55910	2.557000	0.86248	0.455000	0.32223	GCC	SALL1	-	NULL	ENSG00000103449		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2		0.00	15	0	C	NM_002968		51173264	-1			no_errors	ENST00000251020	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.997	A
SAMD9L	219285	genome.wustl.edu	37	7	92761326	92761326	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:92761326C>A	ENST00000318238.4	-	5	5175	c.3959G>T	c.(3958-3960)aGt>aTt	p.S1320I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1320I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1320I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1320					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAGTAATTGACTCTCTTTACT	0.373																																																	0													74.0	77.0	76.0					7																	92761326		2202	4297	6499	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3959G>T	7.37:g.92761326C>A	ENSP00000326247:p.Ser1320Ile		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.S1320I	ENST00000318238.4	37	c.3959	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	C	8.531	0.870932	0.17322	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.24908	1.83;1.83;1.83	4.37	1.5	0.22942	.	1.375690	0.04523	N	0.384970	T	0.32164	0.0820	L	0.48642	1.525	0.09310	N	1	P	0.36837	0.571	B	0.43386	0.418	T	0.40664	-0.9551	10	0.59425	D	0.04	-1.1091	9.2196	0.37368	0.0:0.7327:0.0:0.2673	.	1320	Q8IVG5	SAM9L_HUMAN	I	1320	ENSP00000326247:S1320I;ENSP00000405760:S1320I;ENSP00000408796:S1320I	ENSP00000326247:S1320I	S	-	2	0	SAMD9L	92599262	0.009000	0.17119	0.001000	0.08648	0.154000	0.21943	-0.275000	0.08525	0.571000	0.29365	0.467000	0.42956	AGT	SAMD9L	-	NULL	ENSG00000177409		0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0.00	35	0	C	NM_152703		92761326	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	32.00	34	16	SNP	0.001	A
ZBED9	114821	genome.wustl.edu	37	6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338																																																	0													114.0	117.0	116.0					6																	28543364		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000452236.2:c.1118C>A	6.37:g.28543364G>T	ENSP00000395259:p.Ser373*			Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.S373*	ENST00000452236.2	37	c.1118	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	41	8.759941	0.98943	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6309	0.45536	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000395259:S373X	S	-	2	0	SCAND3	28651343	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	2.230000	0.42999	1.935000	0.56089	0.655000	0.94253	TCA	SCAND3	-	pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	ENSG00000232040		0.338	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	-	0.00	63	0	G			28543364	-1	tier1	-	no_errors	ENST00000452236	ensembl	human	known	74_37	nonsense	5.88	80	5	SNP	0.994	T
SCN8A	6334	genome.wustl.edu	37	12	52159718	52159718	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr12:52159718G>C	ENST00000354534.6	+	16	2986	c.2808G>C	c.(2806-2808)gaG>gaC	p.E936D	SCN8A_ENST00000545061.1_Missense_Mutation_p.E936D|SCN8A_ENST00000550891.1_Missense_Mutation_p.E936D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	936					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGTGCGGGGAGTGGATTGAGA	0.498																																																	0													226.0	232.0	230.0					12																	52159718		2202	4299	6501	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2808G>C	12.37:g.52159718G>C	ENSP00000346534:p.Glu936Asp		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E936D	ENST00000354534.6	37	c.2808	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411812	0.62511	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	4.56	1.79	0.24919	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	M	0.84683	2.71	0.49051	D	0.999747	D;D;D	0.89917	0.999;0.974;1.0	D;D;D	0.87578	0.995;0.969;0.998	D	0.99107	1.0845	10	0.87932	D	0	.	9.866	0.41142	0.3537:0.0:0.6462:0.0	.	936;936;936	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	D	936;936;936;936;849	ENSP00000448415:E936D;ENSP00000346534:E936D;ENSP00000440360:E936D;ENSP00000347255:E936D	ENSP00000346534:E936D	E	+	3	2	SCN8A	50445985	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.258000	0.18387	0.433000	0.26313	0.563000	0.77884	GAG	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.498	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0.00	105	0	G	NM_014191		52159718	+1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	44.86	59	48	SNP	1.000	C
NUDT5	11164	genome.wustl.edu	37	10	12209761	12209761	+	Silent	SNP	G	G	A	rs148632115		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:12209761G>A	ENST00000491614.1	-	10	995	c.600C>T	c.(598-600)taC>taT	p.Y200Y	NUDT5_ENST00000378937.3_Silent_p.Y213Y|NUDT5_ENST00000537776.1_Silent_p.Y200Y|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378952.3_5'UTR|SEC61A2_ENST00000304267.8_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	200					D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GTGCTAGAGCGTAGGAATAGA	0.433																																																	0								G	,	0,4406		0,0,2203	163.0	148.0	153.0		,600	-7.7	0.4	10	dbSNP_134	153	4,8596	3.0+/-9.4	0,4,4296	no	intron,coding-synonymous	NUDT5,SEC61A2	NM_001142627.1,NM_014142.2	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	,200/220	12209761	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.600C>T	10.37:g.12209761G>A			A8K516|Q6IAG0|Q9UH49	Silent	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.A418	ENST00000491614.1	37	c.1254	CCDS7089.1	10																																																																																			SEC61A2	-	pirsf_SecY/SEC61-alpha	ENSG00000065665		0.433	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046811.1	-	0.00	29	0	G			12209761	+1	tier1	rs148632115	no_errors	ENST00000475268	ensembl	human	known	74_37	silent	38.71	19	12	SNP	0.690	A
SEMA6C	10500	genome.wustl.edu	37	1	151109548	151109548	+	Silent	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:151109548C>T	ENST00000341697.3	-	11	2450	c.759G>A	c.(757-759)gtG>gtA	p.V253V				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	253	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGAGAACTGCACCTAGGGGA	0.597																																																	0													51.0	50.0	50.0					1																	151109548		2203	4298	6501	SO:0001819	synonymous_variant	0			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.759G>A	1.37:g.151109548C>T			D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.V253	ENST00000341697.3	37	c.759	CCDS984.1	1																																																																																			SEMA6C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000143434		0.597	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	-	0.00	31	0	C	NM_030913		151109548	-1	tier1	-	no_errors	ENST00000368913	ensembl	human	known	74_37	silent	26.87	49	18	SNP	1.000	T
SETDB2	83852	genome.wustl.edu	37	13	50050669	50050669	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr13:50050669A>T	ENST00000317257.8	+	7	1224	c.399A>T	c.(397-399)gaA>gaT	p.E133D	SETDB2_ENST00000258672.5_Missense_Mutation_p.E121D|SETDB2_ENST00000354234.4_Missense_Mutation_p.E121D	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	133					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ACTTTAGAGAAAAAGACTCAT	0.338																																																	0													84.0	91.0	89.0					13																	50050669		2203	4300	6503	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.399A>T	13.37:g.50050669A>T	ENSP00000326477:p.Glu133Asp		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.E133D	ENST00000317257.8	37	c.399	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	A	4.747	0.138877	0.09083	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;T	0.86366	-2.11;-2.11;1.2	5.87	0.209	0.15226	.	1.087730	0.06890	N	0.804120	T	0.80330	0.4603	L	0.59436	1.845	0.09310	N	1	P;B;B	0.38504	0.634;0.015;0.009	B;B;B	0.33620	0.167;0.009;0.004	T	0.64676	-0.6351	10	0.15499	T	0.54	.	5.1091	0.14800	0.5086:0.153:0.3384:0.0	.	133;121;133	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	D	121;133;121	ENSP00000346175:E121D;ENSP00000326477:E133D;ENSP00000258672:E121D	ENSP00000258672:E121D	E	+	3	2	SETDB2	48948670	0.000000	0.05858	0.014000	0.15608	0.289000	0.27227	-0.927000	0.03984	0.501000	0.28013	0.482000	0.46254	GAA	SETDB2	-	NULL	ENSG00000136169		0.338	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	-	0.00	22	0	A	NM_031915		50050669	+1	tier1	-	no_errors	ENST00000317257	ensembl	human	known	74_37	missense	45.00	11	9	SNP	0.051	T
SFXN5	94097	genome.wustl.edu	37	2	73247372	73247372	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:73247372delG	ENST00000272433.2	-	6	483	c.353delC	c.(352-354)ccafs	p.P118fs	SFXN5_ENST00000410065.1_Frame_Shift_Del_p.P118fs|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	118					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACTTACAATTGGCGTCCCAAA	0.383																																																	0													93.0	91.0	92.0					2																	73247372		2203	4300	6503	SO:0001589	frameshift_variant	0			AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.353delC	2.37:g.73247372delG	ENSP00000272433:p.Pro118fs		A8K116|Q494Y3|Q53T29	Frame_Shift_Del	DEL	pfam_Mtc,tigrfam_Mtc	p.P118fs	ENST00000272433.2	37	c.353	CCDS1922.1	2																																																																																			SFXN5	-	pfam_Mtc,tigrfam_Mtc	ENSG00000144040		0.383	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN5	HGNC	protein_coding	OTTHUMT00000251991.1		0.00	16	0	G	NM_144579		73247372	-1	tier1		no_errors	ENST00000272433	ensembl	human	known	74_37	frame_shift_del	25.00	12	4	DEL	1.000	-
SLC16A5	9121	genome.wustl.edu	37	17	73096277	73096277	+	Silent	SNP	T	T	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:73096277T>A	ENST00000450736.2	+	4	934	c.519T>A	c.(517-519)ctT>ctA	p.L173L	SLC16A5_ENST00000329783.4_Silent_p.L173L|SLC16A5_ENST00000538213.2_Silent_p.L213L|SLC16A5_ENST00000580123.1_Silent_p.L173L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	173					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTACCTTCCTTGTCTTCGGCG	0.642																																																	0													49.0	49.0	49.0					17																	73096277		2203	4300	6503	SO:0001819	synonymous_variant	0			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.519T>A	17.37:g.73096277T>A			B4E288	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.L173	ENST00000450736.2	37	c.519	CCDS11713.1	17																																																																																			SLC16A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000170190		0.642	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	-	0.00	48	0	T	NM_004695		73096277	+1	tier1	-	no_errors	ENST00000329783	ensembl	human	known	74_37	silent	28.57	55	22	SNP	0.007	A
SLC45A2	51151	genome.wustl.edu	37	5	33984553	33984553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr5:33984553C>A	ENST00000296589.4	-	1	282	c.136G>T	c.(136-138)Gag>Tag	p.E46*	SLC45A2_ENST00000382102.3_Nonsense_Mutation_p.E46*|SLC45A2_ENST00000509381.1_Nonsense_Mutation_p.E46*|SLC45A2_ENST00000345083.5_Nonsense_Mutation_p.E46*|SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.E46*	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	46					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGCAGAACTCTCTTCCGAAC	0.562																																					Ovarian(31;380 859 8490 22203 49048)												0													60.0	53.0	56.0					5																	33984553		2203	4300	6503	SO:0001587	stop_gained	0			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.136G>T	5.37:g.33984553C>A	ENSP00000296589:p.Glu46*		Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.E46*	ENST00000296589.4	37	c.136	CCDS3901.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.956448	0.97964	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.8232	19.6584	0.95853	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000296589:E46X	E	-	1	0	SLC45A2	34020310	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.762000	0.85270	2.645000	0.89757	0.551000	0.68910	GAG	SLC45A2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000164175		0.562	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	HGNC	protein_coding	OTTHUMT00000207443.2	-	0.00	41	0	C	NM_016180		33984553	-1	tier1	-	no_errors	ENST00000296589	ensembl	human	known	74_37	nonsense	25.00	21	7	SNP	1.000	A
SLC6A16	28968	genome.wustl.edu	37	19	49797779	49797779	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:49797779G>A	ENST00000335875.4	-	8	1502	c.1261C>T	c.(1261-1263)Cta>Tta	p.L421L	SLC6A16_ENST00000454748.3_Silent_p.L421L	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	421					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGTTTCCCTAGGTTTATCAGC	0.483																																																	0													119.0	119.0	119.0					19																	49797779		1923	4147	6070	SO:0001819	synonymous_variant	0			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1261C>T	19.37:g.49797779G>A			Q8IYV4|Q9Y5I9	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.L421	ENST00000335875.4	37	c.1261	CCDS42590.1	19																																																																																			SLC6A16	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000063127		0.483	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A16	HGNC	protein_coding	OTTHUMT00000465503.2	-	0.00	68	0	G	NM_014037		49797779	-1	tier1	-	no_errors	ENST00000335875	ensembl	human	known	74_37	silent	11.90	73	10	SNP	0.000	A
SLC9C2	284525	genome.wustl.edu	37	1	173556830	173556830	+	Missense_Mutation	SNP	C	C	T	rs539570027		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:173556830C>T	ENST00000367714.3	-	5	919	c.497G>A	c.(496-498)cGt>cAt	p.R166H	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R64H|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	166					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.R166L(1)									ATTCACAGAACGAAGAGGATC	0.294													C|||	1	0.000199681	0.0	0.0	5008	,	,		19480	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)											95.0	99.0	98.0					1																	173556830		2203	4299	6502	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.497G>A	1.37:g.173556830C>T	ENSP00000356687:p.Arg166His		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R166H	ENST00000367714.3	37	c.497	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	C	5.424	0.263449	0.10294	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06371	3.31;3.31	5.59	-0.15	0.13416	Cation/H+ exchanger (1);	0.795247	0.11302	N	0.578073	T	0.00496	0.0016	N	0.00926	-1.1	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45249	-0.9274	10	0.22109	T	0.4	-1.7648	2.9129	0.05743	0.3107:0.1768:0.0:0.5125	.	166	Q5TAH2	S9A11_HUMAN	H	166;64	ENSP00000356687:R166H;ENSP00000445437:R64H	ENSP00000356687:R166H	R	-	2	0	SLC9A11	171823453	0.224000	0.23674	0.017000	0.16124	0.267000	0.26476	0.858000	0.27845	0.052000	0.16007	-0.423000	0.05987	CGT	SLC9C2	-	pfam_Cation/H_exchanger	ENSG00000162753		0.294	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0.00	26	0	C	NM_178527		173556830	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	18.75	26	6	SNP	0.021	T
SLX4	84464	genome.wustl.edu	37	16	3652151	3652151	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:3652151C>T	ENST00000294008.3	-	4	1558	c.918G>A	c.(916-918)atG>atA	p.M306I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	306	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGGTCACGTTCATGGCTGAGA	0.562								Direct reversal of damage																																									0													126.0	108.0	114.0					16																	3652151		2197	4300	6497	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.918G>A	16.37:g.3652151C>T	ENSP00000294008:p.Met306Ile		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.M306I	ENST00000294008.3	37	c.918	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016211	0.93404	.	.	ENSG00000188827	ENST00000294008	T	0.01804	4.63	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	L	0.58810	1.83	0.42803	D	0.99393	D	0.89917	1.0	D	0.83275	0.996	T	0.00394	-1.1767	10	0.87932	D	0	.	18.6822	0.91549	0.0:1.0:0.0:0.0	.	306	Q8IY92	SLX4_HUMAN	I	306	ENSP00000294008:M306I	ENSP00000294008:M306I	M	-	3	0	SLX4	3592152	1.000000	0.71417	0.953000	0.39169	0.911000	0.54048	6.081000	0.71309	2.769000	0.95229	0.655000	0.94253	ATG	SLX4	-	NULL	ENSG00000188827		0.562	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	-	0.00	36	0	C	NM_032444		3652151	-1	tier1	-	no_errors	ENST00000294008	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	T
SPAG9	9043	genome.wustl.edu	37	17	49091695	49091695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:49091695C>A	ENST00000262013.7	-	9	1319	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	SPAG9_ENST00000510283.1_Nonsense_Mutation_p.E214*|SPAG9_ENST00000505279.1_Nonsense_Mutation_p.E357*|SPAG9_ENST00000357122.4_Nonsense_Mutation_p.E357*	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	371					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTTTGTTCTCTATGCCTTTG	0.393																																																	0													140.0	125.0	131.0					17																	49091695		2203	4300	6503	SO:0001587	stop_gained	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1111G>T	17.37:g.49091695C>A	ENSP00000262013:p.Glu371*		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Nonsense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.E371*	ENST00000262013.7	37	c.1111	CCDS45740.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.582242	0.98371	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000511795	.	.	.	5.63	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-20.2268	11.8645	0.52486	0.0:0.8089:0.1234:0.0677	.	.	.	.	X	371;127;113;113;214;357;357;41	.	ENSP00000262013:E371X	E	-	1	0	SPAG9	46446694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.985000	0.70556	1.477000	0.48234	0.591000	0.81541	GAG	SPAG9	-	NULL	ENSG00000008294		0.393	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	-	0.00	25	0	C	NM_003971		49091695	-1	tier1	-	no_errors	ENST00000262013	ensembl	human	known	74_37	nonsense	52.78	17	19	SNP	1.000	A
SPTA1	6708	genome.wustl.edu	37	1	158612700	158612700	+	Silent	SNP	T	T	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:158612700T>C	ENST00000368147.4	-	32	4689	c.4509A>G	c.(4507-4509)aaA>aaG	p.K1503K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1503					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)					GGTAGAATTGTTTTAGGTTGG	0.493																																																	0													152.0	142.0	145.0					1																	158612700		1993	4172	6165	SO:0001819	synonymous_variant	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.4509A>G	1.37:g.158612700T>C			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	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.K1503	ENST00000368147.4	37	c.4509	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	36	0	T	NM_003126		158612700	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	60.38	21	32	SNP	1.000	C
SSX5	6758	genome.wustl.edu	37	X	48053592	48053592	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:48053592C>T	ENST00000376923.1	-	3	252	c.253G>A	c.(253-255)Gat>Aat	p.D85N	SSX5_ENST00000347757.1_Missense_Mutation_p.D85N|SSX5_ENST00000311798.1_Missense_Mutation_p.D126N			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGGTCATTATCAAAATCATTC	0.483																																																	0													133.0	118.0	123.0					X																	48053592		2203	4299	6502	SO:0001583	missense	0			BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.253G>A	X.37:g.48053592C>T	ENSP00000366122:p.Asp85Asn		Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D126N	ENST00000376923.1	37	c.376	CCDS14289.1	X	.	.	.	.	.	.	.	.	.	.	N	13.49	2.252068	0.39797	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757	T;T;T	0.14022	2.59;2.54;2.54	1.72	0.748	0.18376	.	1.031060	0.07716	N	0.942835	T	0.36386	0.0965	M	0.84846	2.72	0.09310	N	1	D;D	0.71674	0.983;0.998	P;D	0.70016	0.833;0.967	T	0.09618	-1.0666	10	0.56958	D	0.05	.	5.3411	0.15984	0.0:0.6406:0.3594:0.0	.	85;126	O60225;O60225-2	SSX5_HUMAN;.	N	126;85;85	ENSP00000312415:D126N;ENSP00000366122:D85N;ENSP00000290558:D85N	ENSP00000312415:D126N	D	-	1	0	SSX5	47938536	0.015000	0.18098	0.002000	0.10522	0.005000	0.04900	0.143000	0.16115	0.172000	0.19760	0.171000	0.16805	GAT	SSX5	-	NULL	ENSG00000165583		0.483	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSX5	HGNC	protein_coding	OTTHUMT00000056466.1	-	0.00	87	0	C	NM_021015		48053592	-1	tier1	-	no_errors	ENST00000311798	ensembl	human	known	74_37	missense	67.44	28	58	SNP	0.002	T
SYT17	51760	genome.wustl.edu	37	16	19191850	19191850	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:19191850G>A	ENST00000355377.2	+	4	718	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	SYT17_ENST00000562711.2_Missense_Mutation_p.R103Q|SYT17_ENST00000562034.1_Missense_Mutation_p.R46Q|SYT17_ENST00000568115.1_Missense_Mutation_p.R46Q	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	107					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGCCTGACGCGGAGGATTTCG	0.572											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71.0	62.0	65.0					16																	19191850		2197	4300	6497	SO:0001583	missense	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.320G>A	16.37:g.19191850G>A	ENSP00000347538:p.Arg107Gln	731	O43330|Q9NZ18	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.R107Q	ENST00000355377.2	37	c.320	CCDS10575.1	16	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766709	0.69878	.	.	ENSG00000103528	ENST00000355377	T	0.16457	2.34	4.73	4.73	0.59995	.	0.213889	0.29522	N	0.011908	T	0.24699	0.0599	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.994;0.994	P;D	0.64042	0.885;0.921	T	0.04454	-1.0950	10	0.18276	T	0.48	.	18.2759	0.90083	0.0:0.0:1.0:0.0	.	107;46	Q9BSW7;B4DJB2	SYT17_HUMAN;.	Q	107	ENSP00000347538:R107Q	ENSP00000347538:R107Q	R	+	2	0	SYT17	19099351	0.999000	0.42202	1.000000	0.80357	0.901000	0.52897	4.253000	0.58791	2.627000	0.88993	0.655000	0.94253	CGG	SYT17	-	NULL	ENSG00000103528		0.572	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2	-	0.00	32	0	G	NM_016524		19191850	+1	tier1	-	no_errors	ENST00000355377	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	A
SZT2	23334	genome.wustl.edu	37	1	43907451	43907451	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:43907451G>T	ENST00000562955.1	+	54	7533	c.7533G>T	c.(7531-7533)atG>atT	p.M2511I	SZT2_ENST00000372442.1_Missense_Mutation_p.M1669I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2568					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCACCTCAATGGCTGGAGACA	0.527																																																	0													108.0	89.0	95.0					1																	43907451		2203	4300	6503	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7533G>T	1.37:g.43907451G>T	ENSP00000457168:p.Met2511Ile		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.M2511I	ENST00000562955.1	37	c.7533	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.678053	0.47886	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.2	5.2	0.72013	.	0.062180	0.64402	D	0.000003	T	0.32496	0.0831	N	0.14661	0.345	0.31367	N	0.680602	B	0.21225	0.053	B	0.21708	0.036	T	0.31752	-0.9932	9	0.37606	T	0.19	.	14.0839	0.64942	0.0748:0.0:0.9252:0.0	.	2511	Q5T011-5	.	I	1669	.	ENSP00000361519:M1669I	M	+	3	0	SZT2	43680038	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.910000	0.75741	2.412000	0.81896	0.651000	0.88453	ATG	SZT2	-	NULL	ENSG00000198198		0.527	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3		0.00	37	0	G	NM_015284		43907451	+1			no_errors	ENST00000562955	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	T
TAS2R8	50836	genome.wustl.edu	37	12	10959271	10959271	+	Silent	SNP	A	A	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr12:10959271A>G	ENST00000240615.2	-	1	621	c.309T>C	c.(307-309)ctT>ctC	p.L103L		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	103					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGAAGACATTAAGGCAGGTGG	0.383																																																	0													86.0	86.0	86.0					12																	10959271		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.309T>C	12.37:g.10959271A>G			Q4KN29|Q645Y2	Silent	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L103	ENST00000240615.2	37	c.309	CCDS8632.1	12																																																																																			TAS2R8	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000121314		0.383	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R8	HGNC	protein_coding	OTTHUMT00000399932.1	-	0.00	22	0	A			10959271	-1	tier1	-	no_errors	ENST00000240615	ensembl	human	known	74_37	silent	49.28	35	34	SNP	0.021	G
TIAM1	7074	genome.wustl.edu	37	21	32525396	32525396	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr21:32525396G>A	ENST00000286827.3	-	19	3699	c.3228C>T	c.(3226-3228)ctC>ctT	p.L1076L	TIAM1_ENST00000541036.1_Silent_p.L1016L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1076	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CATCCTGGGTGAGAAAAGTTT	0.368																																																	0													127.0	131.0	130.0					21																	32525396		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3228C>T	21.37:g.32525396G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.L1076	ENST00000286827.3	37	c.3228	CCDS13609.1	21																																																																																			TIAM1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000156299		0.368	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0.00	48	0	G	NM_003253		32525396	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	silent	24.07	41	13	SNP	1.000	A
TMPRSS9	360200	genome.wustl.edu	37	19	2389893	2389893	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:2389893G>A	ENST00000332578.3	+	1	110	c.110G>A	c.(109-111)aGc>aAc	p.S37N		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	37					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)		GTGGCCACCAGCCTTGTCGTC	0.597																																																	0													113.0	85.0	95.0					19																	2389893		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.110G>A	19.37:g.2389893G>A	ENSP00000330264:p.Ser37Asn		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.S37N	ENST00000332578.3	37	c.110	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054344	0.36277	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.89746	-2.56	4.39	2.02	0.26589	.	0.874842	0.09879	N	0.743925	D	0.82287	0.5004	L	0.29908	0.895	0.09310	N	1	P;P	0.48764	0.89;0.915	B;B	0.42692	0.34;0.395	T	0.71609	-0.4541	10	0.46703	T	0.11	.	7.8248	0.29309	0.0:0.1756:0.6439:0.1804	.	37;37	Q7Z410;E7EMP4	TMPS9_HUMAN;.	N	37	ENSP00000330264:S37N	ENSP00000330264:S37N	S	+	2	0	TMPRSS9	2340893	0.041000	0.20044	0.004000	0.12327	0.001000	0.01503	1.245000	0.32790	0.955000	0.37878	-0.330000	0.08379	AGC	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1	ENSG00000178297		0.597	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	-	0.00	29	0	G	NM_182973		2389893	+1	tier1	-	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	38.03	44	27	SNP	0.003	A
TP53	7157	genome.wustl.edu	37	17	7577530	7577532	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:7577530_7577532delTGG	ENST00000269305.4	-	7	938_940	c.749_751delCCA	c.(748-753)cccatc>ctc	p.250_251PI>L	TP53_ENST00000445888.2_In_Frame_Del_p.250_251PI>L|TP53_ENST00000420246.2_In_Frame_Del_p.250_251PI>L|TP53_ENST00000455263.2_In_Frame_Del_p.250_251PI>L|TP53_ENST00000413465.2_In_Frame_Del_p.250_251PI>L|TP53_ENST00000359597.4_In_Frame_Del_p.250_251PI>L|TP53_ENST00000574684.1_5'Flank	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	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.I251F(9)|p.0?(8)|p.I251fs*94(7)|p.I251L(5)|p.?(5)|p.P250P(4)|p.P250H(4)|p.I251_T253delILT(4)|p.P250F(3)|p.P250N(2)|p.I251del(2)|p.M246_P250delMNRRP(2)|p.I251V(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.R249_I251delRPI(1)|p.I251fs*12(1)|p.I251fs*13(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*96(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250delRP(1)|p.P250_I251insX(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)	ATGGTGAGGATGGGCCTCCGGTT	0.576		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"""	118	Substitution - Missense(72)|Deletion - In frame(16)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(4)|Insertion - In frame(3)|Insertion - Frameshift(2)	large_intestine(20)|breast(16)|lung(13)|stomach(10)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|skin(6)|central_nervous_system(5)|biliary_tract(5)|liver(5)|oesophagus(5)|ovary(5)|bone(4)|urinary_tract(3)|thyroid(1)|genital_tract(1)|peritoneum(1)|eye(1)|pancreas(1)	GRCh37	CM973401	TP53	M																																				SO:0001651	inframe_deletion	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.749_751delCCA	17.37:g.7577530_7577532delTGG	ENSP00000269305:p.Pro250_Ile251delinsLeu		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	In_Frame_Del	DEL	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.PI250in_frame_delL	ENST00000269305.4	37	c.751_749	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.576	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	50	0	TGG	NM_000546		7577532	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	71.64	19	48	DEL	1.000:1.000:1.000	-
TPGS2	25941	genome.wustl.edu	37	18	34376768	34376768	+	Nonstop_Mutation	SNP	T	T	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr18:34376768T>A	ENST00000334295.4	-	7	1330	c.903A>T	c.(901-903)tgA>tgT	p.*301C	TPGS2_ENST00000590652.1_Intron|TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000593035.1_Nonstop_Mutation_p.*266C|TPGS2_ENST00000383056.3_Nonstop_Mutation_p.*258C|TPGS2_ENST00000587129.1_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	0						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGAGGGGTGCTCACTTCCGGG	0.612																																																	0													53.0	50.0	51.0					18																	34376768		2203	4300	6503	SO:0001578	stop_lost	0			BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.903A>T	18.37:g.34376768T>A			B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Nonstop_Mutation	SNP	smart_SMI1/KNR4_like_dom	p.*301C	ENST00000334295.4	37	c.903	CCDS32817.1	18	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076932	0.36662	.	.	ENSG00000134779	ENST00000334295;ENST00000383056	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9869	0.80160	0.0:0.0:0.0:1.0	.	.	.	.	C	301;258	.	.	X	-	3	0	C18orf10	32630766	1.000000	0.71417	0.852000	0.33557	0.255000	0.26057	5.175000	0.65021	2.171000	0.68590	0.533000	0.62120	TGA	TPGS2	-	NULL	ENSG00000134779		0.612	TPGS2-001	KNOWN	basic|CCDS	protein_coding	TPGS2	HGNC	protein_coding	OTTHUMT00000440410.2	-	0.00	21	0	T	NM_015476		34376768	-1	tier1	-	no_errors	ENST00000334295	ensembl	human	known	74_37	nonstop	30.43	32	14	SNP	0.993	A
TPRXL	348825	genome.wustl.edu	37	3	14106309	14106309	+	Silent	SNP	C	C	T	rs376604625		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:14106309C>T	ENST00000424053.1	+	3	1180	c.633C>T	c.(631-633)agC>agT	p.S211S	TPRXL_ENST00000429201.1_Silent_p.S211S|TPRXL_ENST00000532753.1_Intron|TPRXL_ENST00000326972.8_Silent_p.S211S			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.							p.S211S(1)		endometrium(1)	1						gcagcagcagctccagcacca	0.687																																																	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001819	synonymous_variant	0			AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	ENST00000424053.1:c.633C>T	3.37:g.14106309C>T			Q8NAM5	Silent	SNP	NULL	p.S211	ENST00000424053.1	37	c.633		3																																																																																			TPRXL	-	NULL	ENSG00000180438		0.687	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	HGNC	protein_coding	OTTHUMT00000340436.1		0.00	10	0	C	NR_002223		14106309	+1			no_errors	ENST00000326972	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.999	T
TRIM5	85363	genome.wustl.edu	37	11	5687321	5687321	+	Intron	DEL	A	A	-			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:5687321delA	ENST00000380034.3	-	6	1024				TRIM5_ENST00000305836.5_Splice_Site|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_Intron|TRIM5_ENST00000396853.4_Frame_Shift_Del_p.L254fs|TRIM5_ENST00000380027.1_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5						activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCTAAGaattaaaaaaaaaaa	0.398																																																	0													33.0	36.0	35.0					11																	5687321		2192	4295	6487	SO:0001627	intron_variant	0			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.768-10T>-	11.37:g.5687321delA			A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Frame_Shift_Del	DEL	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L254fs	ENST00000380034.3	37	c.761	CCDS31393.1	11																																																																																			TRIM5	-	NULL	ENSG00000132256		0.398	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	HGNC	protein_coding	OTTHUMT00000143360.3		0.00	29	0	A	NM_033034		5687321	-1	tier1		no_errors	ENST00000396853	ensembl	human	known	74_37	frame_shift_del	11.11	24	3	DEL	0.002	-
TTLL9	164395	genome.wustl.edu	37	20	30526987	30526987	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr20:30526987G>T	ENST00000375938.4	+	14	1414	c.1161G>T	c.(1159-1161)atG>atT	p.M387I	TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000535842.1_Missense_Mutation_p.M387I|TTLL9_ENST00000375922.4_Intron			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	387					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGACCTCATGTGGAATGATG	0.582																																																	0													75.0	81.0	79.0					20																	30526987		1949	4128	6077	SO:0001583	missense	0			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1161G>T	20.37:g.30526987G>T	ENSP00000365105:p.Met387Ile		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.M387I	ENST00000375938.4	37	c.1161	CCDS42863.1	20	.	.	.	.	.	.	.	.	.	.	G	7.437	0.639919	0.14386	.	.	ENSG00000131044	ENST00000375938;ENST00000535842	T;T	0.03035	4.07;4.07	5.66	5.66	0.87406	.	0.148376	0.64402	D	0.000004	T	0.02494	0.0076	N	0.16656	0.425	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.002	T	0.46789	-0.9166	10	0.07644	T	0.81	.	10.7603	0.46261	0.0864:0.0:0.9136:0.0	.	387;289	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	I	387	ENSP00000365105:M387I;ENSP00000442515:M387I	ENSP00000365105:M387I	M	+	3	0	TTLL9	29990648	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.430000	0.66501	2.680000	0.91292	0.561000	0.74099	ATG	TTLL9	-	NULL	ENSG00000131044		0.582	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		-	0.00	37	0	G	NM_001008409		30526987	+1	tier1	-	no_errors	ENST00000375938	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	T
TYRP1	7306	genome.wustl.edu	37	9	12707960	12707960	+	Intron	SNP	T	T	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr9:12707960T>C	ENST00000388918.5	+	7	1390				TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381137.2_Intron|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1						acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		attaattttattatgtttatt	0.279									Oculocutaneous Albinism																																								0													11.0	11.0	11.0					9																	12707960		2178	4272	6450	SO:0001627	intron_variant	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1262-37T>C	9.37:g.12707960T>C			P78468|P78469|Q13721|Q15679	RNA	SNP	-	NULL	ENST00000388918.5	37	NULL	CCDS34990.1	9																																																																																			TYRP1	-	-	ENSG00000107165		0.279	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	-	0.00	26	0	T	NM_000550		12707960	+1	tier1	-	no_errors	ENST00000473504	ensembl	human	known	74_37	rna	23.81	16	5	SNP	0.000	C
UBXN2A	165324	genome.wustl.edu	37	2	24222791	24222791	+	3'UTR	SNP	A	A	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:24222791A>T	ENST00000309033.4	+	0	1078				UBXN2A_ENST00000535786.1_3'UTR|UBXN2A_ENST00000446425.2_3'UTR|RN7SL610P_ENST00000463845.2_RNA|UBXN2A_ENST00000404924.1_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A						regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GTAAGTGGACATGCAAACCAA	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.*54A>T	2.37:g.24222791A>T			A8K577|B7ZKP8|Q569G8	RNA	SNP	-	NULL	ENST00000309033.4	37	NULL	CCDS1704.1	2																																																																																			UBXN2A	-	-	ENSG00000173960		0.373	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2A	HGNC	protein_coding	OTTHUMT00000246824.2	-	0.00	15	0	A	NM_181713		24222791	+1	tier1	-	no_errors	ENST00000446425	ensembl	human	known	74_37	rna	80.00	3	12	SNP	0.019	T
UGT1A9	54600	genome.wustl.edu	37	2	234581034	234581034	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:234581034A>G	ENST00000354728.4	+	1	536	c.454A>G	c.(454-456)Aac>Gac	p.N152D	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.N152D			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	152					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCTTTTGATAACTGTGGCTT	0.398																																																	0													149.0	147.0	147.0					2																	234581034		2203	4300	6503	SO:0001583	missense	0			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.454A>G	2.37:g.234581034A>G	ENSP00000346768:p.Asn152Asp		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.N152D	ENST00000354728.4	37	c.454	CCDS2505.1	2	.	.	.	.	.	.	.	.	.	.	A	5.998	0.367987	0.11352	.	.	ENSG00000241119	ENST00000354728	T	0.59502	0.26	3.41	-1.46	0.08800	.	.	.	.	.	T	0.30947	0.0781	N	0.11154	0.105	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.19778	-1.0295	9	0.87932	D	0	.	1.8048	0.03078	0.3247:0.289:0.2776:0.1087	.	152;152	Q5DSZ5;O60656	.;UD19_HUMAN	D	152	ENSP00000346768:N152D	ENSP00000346768:N152D	N	+	1	0	UGT1A9	234245773	0.000000	0.05858	0.529000	0.27951	0.155000	0.21991	-0.288000	0.08377	-0.219000	0.10003	0.362000	0.22060	AAC	UGT1A9	-	pfam_UDP_glucos_trans	ENSG00000241119		0.398	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A9	HGNC	protein_coding	OTTHUMT00000130995.1		0.00	33	0	A	NM_021027		234581034	+1			no_errors	ENST00000354728	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.000	G
UNC13A	23025	genome.wustl.edu	37	19	17767143	17767143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:17767143C>A	ENST00000519716.2	-	10	831	c.832G>T	c.(832-834)Gag>Tag	p.E278*	UNC13A_ENST00000550896.1_Nonsense_Mutation_p.E278*|UNC13A_ENST00000551649.1_Nonsense_Mutation_p.E278*|UNC13A_ENST00000252773.7_Nonsense_Mutation_p.E278*|UNC13A_ENST00000428389.2_Nonsense_Mutation_p.E366*|UNC13A_ENST00000552293.1_Nonsense_Mutation_p.E278*	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	278					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCGAAGTCCTCGCTCAGCTGA	0.647																																																	0													15.0	17.0	16.0					19																	17767143		2063	4179	6242	SO:0001587	stop_gained	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.832G>T	19.37:g.17767143C>A	ENSP00000429562:p.Glu278*		E5RHY9	Nonsense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E366*	ENST00000519716.2	37	c.1096	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	37	6.149591	0.97324	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	.	.	.	5.02	5.02	0.67125	.	0.200217	0.41396	U	0.000886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-20.6862	15.801	0.78453	0.0:1.0:0.0:0.0	.	.	.	.	X	278;366;278;278;278;278	.	ENSP00000252773:E278X	E	-	1	0	UNC13A	17628143	1.000000	0.71417	0.996000	0.52242	0.621000	0.37620	7.460000	0.80816	2.330000	0.79161	0.491000	0.48974	GAG	UNC13A	-	NULL	ENSG00000130477		0.647	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0.00	9	0	C	XM_038604		17767143	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	nonsense	38.46	16	10	SNP	1.000	A
UNC13C	440279	genome.wustl.edu	37	15	54592555	54592555	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:54592555A>G	ENST00000260323.11	+	12	4252	c.4252A>G	c.(4252-4254)Att>Gtt	p.I1418V	UNC13C_ENST00000537900.1_Missense_Mutation_p.I1416V|UNC13C_ENST00000545554.1_Missense_Mutation_p.I1418V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1418					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTGAATCCATTTATCAAGC	0.348																																																	0													92.0	83.0	86.0					15																	54592555		1835	4117	5952	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4252A>G	15.37:g.54592555A>G	ENSP00000260323:p.Ile1418Val		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I1418V	ENST00000260323.11	37	c.4252	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	A	21.6	4.169479	0.78452	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.81659	-1.51;-1.52;-1.51	5.61	5.61	0.85477	.	0.051111	0.85682	D	0.000000	D	0.90058	0.6895	M	0.84511	2.7	0.80722	D	1	D;D	0.69078	0.997;0.985	D;D	0.70716	0.97;0.952	D	0.91161	0.4961	10	0.56958	D	0.05	.	14.9834	0.71327	1.0:0.0:0.0:0.0	.	1418;1418	F5H090;Q8NB66	.;UN13C_HUMAN	V	1418;1418;1416	ENSP00000260323:I1418V;ENSP00000438156:I1418V;ENSP00000442569:I1416V	ENSP00000260323:I1418V	I	+	1	0	UNC13C	52379847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.274000	0.95731	2.133000	0.65898	0.533000	0.62120	ATT	UNC13C	-	NULL	ENSG00000137766		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0.00	33	0	A	NM_173166		54592555	+1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	G
USE1	55850	genome.wustl.edu	37	19	17330466	17330466	+	Silent	SNP	G	G	A	rs146606083	byFrequency	TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:17330466G>A	ENST00000263897.5	+	8	671	c.624G>A	c.(622-624)gcG>gcA	p.A208A	USE1_ENST00000445667.2_Silent_p.A208A|USE1_ENST00000379776.4_3'UTR|USE1_ENST00000596136.1_3'UTR	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	208					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						TGAAAATGGCGGACCAGAACC	0.562													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17646	0.0		0.0	False		,,,				2504	0.0																0													71.0	77.0	75.0					19																	17330466		2202	4300	6502	SO:0001819	synonymous_variant	0			AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.624G>A	19.37:g.17330466G>A			Q8NCK1|Q9BRT4	Silent	SNP	pfam_Vesicle_transport_protein_Use1	p.A208	ENST00000263897.5	37	c.624	CCDS46011.1	19																																																																																			USE1	-	pfam_Vesicle_transport_protein_Use1	ENSG00000053501		0.562	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	USE1	HGNC	protein_coding	OTTHUMT00000463295.1		0.00	36	0	G	NM_018467		17330466	+1			no_errors	ENST00000263897	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.009	A
WDR81	124997	genome.wustl.edu	37	17	1639332	1639332	+	Splice_Site	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:1639332G>T	ENST00000409644.1	+	9	5325		c.e9-1		WDR81_ENST00000446363.1_Splice_Site|WDR81_ENST00000437219.2_Splice_Site|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Splice_Site|WDR81_ENST00000545662.1_Splice_Site|WDR81_ENST00000309182.5_Splice_Site	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81						negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTCCCTGCAGCACGAGTTCC	0.677																																																	0													47.0	43.0	44.0					17																	1639332		2203	4298	6501	SO:0001630	splice_region_variant	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5326-1G>T	17.37:g.1639332G>T			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Splice_Site	SNP	-	e9-1	ENST00000409644.1	37	c.5326-1	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802460	0.90538	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0628	0.97684	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR81	1586082	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	9.438000	0.97539	2.745000	0.94114	0.655000	0.94253	.	WDR81	-	-	ENSG00000167716		0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2		0.00	26	0	G	NM_152348	Intron	1639332	+1			no_errors	ENST00000409644	ensembl	human	known	74_37	splice_site	5.41	70	4	SNP	1.000	T
USH1G	124590	genome.wustl.edu	37	17	72915950	72915950	+	Silent	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:72915950G>A	ENST00000319642.1	-	2	1163	c.981C>T	c.(979-981)caC>caT	p.H327H		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	327					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGCCCAGTCCGTGCAGCCCAC	0.677																																																	0													53.0	64.0	60.0					17																	72915950		2203	4299	6502	SO:0001819	synonymous_variant	0			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.981C>T	17.37:g.72915950G>A			Q8N251	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H327	ENST00000319642.1	37	c.981	CCDS32725.1	17																																																																																			USH1G	-	NULL	ENSG00000182040		0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	-	0.00	46	0	G	NM_173477		72915950	-1	tier1	-	no_errors	ENST00000319642	ensembl	human	known	74_37	silent	25.20	92	31	SNP	0.942	A
WDR83	84292	genome.wustl.edu	37	19	12780638	12780638	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:12780638G>A	ENST00000418543.3	+	3	383	c.34G>A	c.(34-36)Gag>Aag	p.E12K	WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.E12K	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	12					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						GCGGCCTCCAGAGCTGCCGCA	0.592																																																	0													40.0	48.0	45.0					19																	12780638		2202	4298	6500	SO:0001583	missense	0			AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.34G>A	19.37:g.12780638G>A	ENSP00000402653:p.Glu12Lys		B2RAF1|Q53FT6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E12K	ENST00000418543.3	37	c.34	CCDS12275.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032208	0.75504	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.43688	0.94;0.94	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.096048	0.64402	D	0.000001	T	0.33352	0.0860	L	0.39020	1.185	0.47511	D	0.999448	B	0.20052	0.041	B	0.16722	0.016	T	0.13764	-1.0497	10	0.07644	T	0.81	.	18.3739	0.90428	0.0:0.0:1.0:0.0	.	12	Q9BRX9	WDR83_HUMAN	K	12	ENSP00000402653:E12K;ENSP00000242796:E12K	ENSP00000242796:E12K	E	+	1	0	WDR83	12641638	0.999000	0.42202	0.964000	0.40570	0.929000	0.56500	5.715000	0.68430	2.818000	0.97014	0.655000	0.94253	GAG	WDR83	-	superfamily_WD40_repeat_dom	ENSG00000123154		0.592	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR83	HGNC	protein_coding	OTTHUMT00000403648.1	-	0.00	30	0	G	NM_032332		12780638	+1	tier1	-	no_errors	ENST00000242796	ensembl	human	known	74_37	missense	21.88	50	14	SNP	0.997	A
WDR87	83889	genome.wustl.edu	37	19	38378468	38378468	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:38378468A>C	ENST00000303868.5	-	6	5950	c.5726T>G	c.(5725-5727)cTg>cGg	p.L1909R	WDR87_ENST00000447313.2_Missense_Mutation_p.L1948R	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1909	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TGTTTCAGCCAGTTTCTCCTT	0.413																																																	0													213.0	157.0	174.0					19																	38378468		692	1591	2283	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.5726T>G	19.37:g.38378468A>C	ENSP00000368025:p.Leu1909Arg		Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1948R	ENST00000303868.5	37	c.5843	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320410	0.23994	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.24538	1.85;1.85	5.26	1.85	0.25348	.	.	.	.	.	T	0.15305	0.0369	L	0.27053	0.805	0.09310	N	1	B;B	0.25719	0.132;0.132	B;B	0.33042	0.157;0.081	T	0.39860	-0.9593	9	0.06494	T	0.89	.	5.9385	0.19179	0.4392:0.1439:0.0:0.4169	.	1909;1948	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	R	1948;1909	ENSP00000405012:L1948R;ENSP00000368025:L1909R	ENSP00000368025:L1909R	L	-	2	0	WDR87	43070308	0.039000	0.19947	0.000000	0.03702	0.004000	0.04260	2.003000	0.40844	0.032000	0.15435	0.519000	0.50382	CTG	WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.413	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	-	0.00	59	0	A	XM_940478		38378468	-1	tier1	-	no_errors	ENST00000447313	ensembl	human	known	74_37	missense	22.99	67	20	SNP	0.000	C
ZDHHC23	254887	genome.wustl.edu	37	3	113672833	113672833	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:113672833G>T	ENST00000330212.3	+	3	747	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G144C	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	150					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GTTCTCTCTGGGCTACATGTA	0.517																																																	0													140.0	127.0	131.0					3																	113672833		2203	4300	6503	SO:0001583	missense	0			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.448G>T	3.37:g.113672833G>T	ENSP00000330485:p.Gly150Cys		D3DN76	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.G150C	ENST00000330212.3	37	c.448	CCDS33827.1	3	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764520	0.69878	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.47177	0.85;0.86	5.66	5.66	0.87406	.	0.220980	0.47455	D	0.000222	T	0.66327	0.2778	L	0.59436	1.845	0.58432	D	0.999997	D	0.89917	1.0	D	0.68353	0.957	T	0.64028	-0.6503	10	0.46703	T	0.11	-2.044	19.7359	0.96202	0.0:0.0:1.0:0.0	.	150	Q8IYP9	ZDH23_HUMAN	C	150;144	ENSP00000330485:G150C;ENSP00000417840:G144C	ENSP00000330485:G150C	G	+	1	0	ZDHHC23	115155523	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.019000	0.76412	2.672000	0.90937	0.462000	0.41574	GGC	ZDHHC23	-	NULL	ENSG00000184307		0.517	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	-	0.00	115	0	G	NM_173570		113672833	+1	tier1	-	no_errors	ENST00000478793	ensembl	human	known	74_37	missense	22.08	120	34	SNP	1.000	T
ZNF486	90649	genome.wustl.edu	37	19	20308434	20308434	+	Silent	SNP	T	T	C			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:20308434T>C	ENST00000335117.8	+	4	972	c.915T>C	c.(913-915)caT>caC	p.H305H	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CTTTTAACCATCCTGCAACTC	0.383																																																	0													44.0	49.0	47.0					19																	20308434		2178	4285	6463	SO:0001819	synonymous_variant	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.915T>C	19.37:g.20308434T>C			Q0VG00	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.H305	ENST00000335117.8	37	c.915	CCDS46029.1	19																																																																																			ZNF486	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256229		0.383	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	-	0.00	28	0	T	NM_052852		20308434	+1	tier1	-	no_errors	ENST00000335117	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.000	C
ZNF43	7594	genome.wustl.edu	37	19	21991047	21991047	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:21991047C>T	ENST00000354959.4	-	4	1961	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	ZNF43_ENST00000598381.1_Missense_Mutation_p.E592K|ZNF43_ENST00000594012.1_Missense_Mutation_p.E592K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E592K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	598					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTGCCACATTCTTCACATTTG	0.358																																																	0													43.0	46.0	45.0					19																	21991047		2202	4297	6499	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1792G>A	19.37:g.21991047C>T	ENSP00000347045:p.Glu598Lys		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	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.E598K	ENST00000354959.4	37	c.1792	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	c	12.66	2.004015	0.35320	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.38887	1.11	1.76	-1.33	0.09172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35158	0.0922	L	0.39898	1.24	0.09310	N	1	P	0.45715	0.865	P	0.46659	0.523	T	0.27706	-1.0066	9	0.62326	D	0.03	.	5.5428	0.17047	0.0:0.6488:0.2011:0.1501	.	598	P17038	ZNF43_HUMAN	K	597;598	ENSP00000347045:E598K	ENSP00000347045:E598K	E	-	1	0	ZNF43	21782887	0.000000	0.05858	0.222000	0.23844	0.706000	0.40770	-0.307000	0.08167	0.080000	0.16959	0.305000	0.20034	GAA	ZNF43	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198521		0.358	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	-	0.00	23	0	C	NM_003423		21991047	-1	tier1	-	no_errors	ENST00000354959	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.026	T
ZNF264	9422	genome.wustl.edu	37	19	57724047	57724047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:57724047C>T	ENST00000263095.6	+	4	1996	c.1582C>T	c.(1582-1584)Cga>Tga	p.R528*	ZNF264_ENST00000536056.1_Nonsense_Mutation_p.R528*	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AAACCTCATTCGACATGCCAT	0.498																																																	0													97.0	96.0	97.0					19																	57724047		2203	4300	6503	SO:0001587	stop_gained	0			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1582C>T	19.37:g.57724047C>T	ENSP00000263095:p.Arg528*		A8K8Y9|Q9P1V0	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.R528*	ENST00000263095.6	37	c.1582	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.811396	0.97857	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	.	.	.	1.98	0.857	0.19025	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	4.5027	0.11872	0.4328:0.3535:0.2137:0.0	.	.	.	.	X	528	.	ENSP00000263095:R528X	R	+	1	2	ZNF264	62415859	0.000000	0.05858	0.217000	0.23759	0.954000	0.61252	-2.168000	0.01270	0.372000	0.24591	0.491000	0.48974	CGA	ZNF264	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083844		0.498	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	HGNC	protein_coding	OTTHUMT00000465080.1	-	0.00	46	0	C			57724047	+1	tier1	-	no_errors	ENST00000263095	ensembl	human	known	74_37	nonsense	18.57	57	13	SNP	0.000	T
ZNF496	84838	genome.wustl.edu	37	1	247463936	247463936	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:247463936G>T	ENST00000294753.4	-	9	2113	c.1649C>A	c.(1648-1650)gCc>gAc	p.A550D	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.A586D	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	550					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAAGGGCCGGGCTTTGTCCTT	0.617																																																	0													70.0	76.0	74.0					1																	247463936		2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1649C>A	1.37:g.247463936G>T	ENSP00000294753:p.Ala550Asp		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A586D	ENST00000294753.4	37	c.1757	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.037073	0.19669	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.27720	1.65;1.65	3.97	1.95	0.26073	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.903625	0.09372	N	0.811112	T	0.12263	0.0298	N	0.04994	-0.135	0.09310	N	1	P;B	0.41848	0.763;0.039	B;B	0.33521	0.165;0.018	T	0.10042	-1.0647	10	0.46703	T	0.11	-2.7732	4.6126	0.12409	0.1337:0.2233:0.643:0.0	.	586;550	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	D	550;586	ENSP00000294753:A550D;ENSP00000355454:A586D	ENSP00000294753:A550D	A	-	2	0	ZNF496	245530559	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.538000	0.23160	0.541000	0.28827	0.655000	0.94253	GCC	ZNF496	-	pfscan_Znf_C2H2	ENSG00000162714		0.617	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0.00	19	0	G	NM_032752		247463936	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.001	T
ZNF599	148103	genome.wustl.edu	37	19	35250997	35250997	+	Missense_Mutation	SNP	G	G	A	rs143039488	byFrequency	TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:35250997G>A	ENST00000329285.8	-	4	1082	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	237					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(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GCCATATAACGACAGGCTTTC	0.468																																																	0								G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	167.0	169.0	169.0		709	1.1	0.1	19	dbSNP_134	169	0,8600		0,0,4300	yes	missense	ZNF599	NM_001007248.2	180	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	237/589	35250997	3,13003	2203	4300	6503	SO:0001583	missense	0			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.709C>T	19.37:g.35250997G>A	ENSP00000333802:p.Arg237Cys		Q569K0|Q5PRG1	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.R237C	ENST00000329285.8	37	c.709	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117531	0.20877	6.81E-4	0.0	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.29655	1.56	2.26	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27731	0.0682	L	0.33245	0.995	0.20307	N	0.999917	D	0.64830	0.994	P	0.48770	0.589	T	0.11690	-1.0577	9	0.56958	D	0.05	.	7.9479	0.29998	0.0:0.0:0.7542:0.2458	.	237	Q96NL3	ZN599_HUMAN	C	236;237;39	ENSP00000333802:R237C	ENSP00000333802:R237C	R	-	1	0	ZNF599	39942837	0.000000	0.05858	0.102000	0.21198	0.337000	0.28794	0.055000	0.14229	0.465000	0.27167	0.313000	0.20887	CGT	ZNF599	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000153896		0.468	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	-	0.00	31	0	G	XM_086046		35250997	-1	tier1	rs143039488	no_errors	ENST00000329285	ensembl	human	known	74_37	missense	21.05	45	12	SNP	0.128	A
ZNF767P	79970	genome.wustl.edu	37	7	149317094	149317094	+	RNA	SNP	C	C	A			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:149317094C>A	ENST00000463567.1	-	0	520					NR_027788.1		Q75MW2	ZN767_HUMAN												central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			CTTGTTCAATCTGGGAGAGGA	0.562																																																	0													87.0	79.0	82.0					7																	149317094		2203	4300	6503			0																															7.37:g.149317094C>A			D3DWG6|Q86WY4|Q9H9J3	RNA	SNP	-	NULL	ENST00000463567.1	37	NULL		7																																																																																			ZNF767	-	-	ENSG00000133624		0.562	ZNF767-001	KNOWN	basic	processed_transcript	ZNF767	HGNC	pseudogene	OTTHUMT00000352753.2	-	0.00	56	0	C			149317094	-1	tier1	-	no_errors	ENST00000463567	ensembl	human	known	74_37	rna	14.63	105	18	SNP	0.069	A
