#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
ABCB11	8647	genome.wustl.edu	37	2	169850332	169850332	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:169850332C>T	ENST00000263817.6	-	8	796	c.672G>A	c.(670-672)atG>atA	p.M224I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	224	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGGTCGAGGTCATGCGCTGAA	0.418																																																	0													56.0	54.0	55.0					2																	169850332		1901	4102	6003	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.672G>A	2.37:g.169850332C>T	ENSP00000263817:p.Met224Ile		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.M224I	ENST00000263817.6	37	c.672	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	9.730	1.161944	0.21538	.	.	ENSG00000073734	ENST00000263817	D	0.87809	-2.3	5.56	4.63	0.57726	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.214441	0.56097	D	0.000021	T	0.66137	0.2759	N	0.04260	-0.245	0.29259	N	0.871461	B	0.02656	0.0	B	0.06405	0.002	T	0.54296	-0.8315	10	0.12766	T	0.61	-9.6509	3.8629	0.09004	0.1547:0.4704:0.2878:0.0871	.	224	O95342	ABCBB_HUMAN	I	224	ENSP00000263817:M224I	ENSP00000263817:M224I	M	-	3	0	ABCB11	169558578	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.012000	0.40932	2.604000	0.88044	0.650000	0.86243	ATG	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000073734		0.418	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	-	0.00	98	0	C	NM_003742		169850332	-1	tier1	-	no_errors	ENST00000263817	ensembl	human	known	74_37	missense	47.30	39	35	SNP	1.000	T
AGBL2	79841	genome.wustl.edu	37	11	47727462	47727462	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:47727462G>C	ENST00000525123.1	-	5	525	c.240C>G	c.(238-240)atC>atG	p.I80M	AGBL2_ENST00000528244.1_Missense_Mutation_p.I80M|AGBL2_ENST00000298861.4_Missense_Mutation_p.I80M|AGBL2_ENST00000529712.1_Intron|AGBL2_ENST00000357610.3_Missense_Mutation_p.I80M	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	80						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AAGATAAACTGATAGGCCCTA	0.458																																																	0													185.0	173.0	177.0					11																	47727462		2201	4298	6499	SO:0001583	missense	0				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.240C>G	11.37:g.47727462G>C	ENSP00000435582:p.Ile80Met		A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	pfam_Peptidase_M14	p.I80M	ENST00000525123.1	37	c.240	CCDS7944.1	11	.	.	.	.	.	.	.	.	.	.	G	7.379	0.628351	0.14257	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000530577;ENST00000529154	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	3.11	-2.3E-4	0.14039	.	4.758550	0.00531	N	0.000218	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.021;0.005	B;B	0.10450	0.005;0.001	T	0.29671	-1.0004	10	0.66056	D	0.02	3.6042	5.1676	0.15094	0.1248:0.4161:0.4591:0.0	.	80;80	F6U0I4;Q5U5Z8	.;CBPC2_HUMAN	M	80;80;80;80;60;80	ENSP00000435582:I80M;ENSP00000350228:I80M;ENSP00000298861:I80M;ENSP00000436630:I80M;ENSP00000432264:I60M;ENSP00000436518:I80M	ENSP00000298861:I80M	I	-	3	3	AGBL2	47684038	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-0.314000	0.08092	0.010000	0.14839	0.543000	0.68304	ATC	AGBL2	-	NULL	ENSG00000165923		0.458	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	HGNC	protein_coding	OTTHUMT00000383726.2	-	0.00	151	0	G	NM_024783		47727462	-1	tier1	-	no_errors	ENST00000357610	ensembl	human	known	74_37	missense	32.69	105	51	SNP	0.000	C
CHST9	83539	genome.wustl.edu	37	18	24513645	24513645	+	Intron	SNP	T	T	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr18:24513645T>A	ENST00000284224.8	-	5	518				AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Intron|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_Intron	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9						carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					actgagcacctactatgtgca	0.383																																																	0													209.0	172.0	183.0					18																	24513645		692	1591	2283	SO:0001627	intron_variant	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.240+10647A>T	18.37:g.24513645T>A			Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	RNA	SNP	-	NULL	ENST00000284224.8	37	NULL	CCDS42422.1	18																																																																																			AQP4-AS1	-	-	ENSG00000260372		0.383	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP4-AS1	HGNC	protein_coding	OTTHUMT00000446549.1	-	0.00	33	0	T	NM_031422		24513645	+1	tier1	-	no_errors	ENST00000568797	ensembl	human	known	74_37	rna	25.93	20	7	SNP	0.034	A
ARHGEF3	50650	genome.wustl.edu	37	3	56763546	56763546	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:56763546G>T	ENST00000296315.3	-	10	1501	c.1333C>A	c.(1333-1335)Cgt>Agt	p.R445S	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R477S|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.R451S|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R451S|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R416S	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	445	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTGGCTTGACGAATACAGTTA	0.488																																																	0													125.0	127.0	126.0					3																	56763546		2203	4300	6503	SO:0001583	missense	0			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1333C>A	3.37:g.56763546G>T	ENSP00000296315:p.Arg445Ser		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R477S	ENST00000296315.3	37	c.1429	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307858	0.81247	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.95	5.95	0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.77004	0.96;0.975;0.989;0.987;0.96;0.989	T	0.56721	-0.7932	10	0.62326	D	0.03	-11.142	20.3789	0.98926	0.0:0.0:1.0:0.0	.	451;416;243;477;445;451	E9PG37;E7EU49;Q9NR81-4;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	S	445;477;451;451;416	ENSP00000296315:R445S;ENSP00000341071:R477S;ENSP00000410922:R451S;ENSP00000420420:R451S;ENSP00000418826:R416S	ENSP00000296315:R445S	R	-	1	0	ARHGEF3	56738586	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.366000	0.59492	2.826000	0.97356	0.563000	0.77884	CGT	ARHGEF3	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000163947		0.488	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2		0.00	45	0	G	NM_019555		56763546	-1			no_errors	ENST00000338458	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
ASXL3	80816	genome.wustl.edu	37	18	31326180	31326180	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr18:31326180C>G	ENST00000269197.5	+	12	6368	c.6368C>G	c.(6367-6369)tCt>tGt	p.S2123C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGATTTCTCTTCCTATTTG	0.413																																																	0													76.0	79.0	78.0					18																	31326180		1875	4116	5991	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6368C>G	18.37:g.31326180C>G	ENSP00000269197:p.Ser2123Cys		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S2123C	ENST00000269197.5	37	c.6368	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498740	0.64298	.	.	ENSG00000141431	ENST00000269197	T	0.18502	2.21	6.04	6.04	0.98038	.	.	.	.	.	T	0.28632	0.0709	N	0.24115	0.695	0.45662	D	0.998587	D	0.71674	0.998	P	0.60173	0.87	T	0.01048	-1.1469	9	0.59425	D	0.04	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	2123	Q9C0F0	ASXL3_HUMAN	C	2123	ENSP00000269197:S2123C	ENSP00000269197:S2123C	S	+	2	0	ASXL3	29580178	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.987000	0.70571	2.873000	0.98535	0.563000	0.77884	TCT	ASXL3	-	NULL	ENSG00000141431		0.413	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0.00	81	0	C			31326180	+1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	G
BAZ2A	11176	genome.wustl.edu	37	12	57003984	57003984	+	Missense_Mutation	SNP	C	C	T	rs369013055		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:57003984C>T	ENST00000551812.1	-	9	1994	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	BAZ2A_ENST00000179765.5_Missense_Mutation_p.V569M|BAZ2A_ENST00000549884.1_Missense_Mutation_p.V599M|BAZ2A_ENST00000379441.3_Missense_Mutation_p.V571M	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	601	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.			V -> L (in Ref. 1; BAA89211). {ECO:0000305}.	chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTGTGTACCACGTTGCGGCTC	0.498																																																	0								C	MET/VAL	0,3952		0,0,1976	110.0	112.0	112.0		1801	4.8	0.9	12		112	1,8303		0,1,4151	no	missense	BAZ2A	NM_013449.3	21	0,1,6127	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	601/1906	57003984	1,12255	1976	4152	6128	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1801G>A	12.37:g.57003984C>T	ENSP00000446880:p.Val601Met		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.V601M	ENST00000551812.1	37	c.1801	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271175	0.23221	0.0	1.2E-4	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884;ENST00000551996	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	4.75	4.75	0.60458	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.389995	0.25517	N	0.030126	D	0.92453	0.7604	N	0.08118	0	0.09310	N	1	D;D	0.59357	0.981;0.985	P;P	0.52598	0.578;0.703	D	0.87137	0.2200	10	0.49607	T	0.09	.	17.0703	0.86571	0.0:1.0:0.0:0.0	.	599;601	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	M	571;569;601;599;256	ENSP00000368754:V571M;ENSP00000179765:V569M;ENSP00000446880:V601M;ENSP00000447941:V599M	ENSP00000179765:V569M	V	-	1	0	BAZ2A	55290251	0.785000	0.28726	0.901000	0.35422	0.015000	0.08874	0.778000	0.26732	2.646000	0.89796	0.561000	0.74099	GTG	BAZ2A	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	ENSG00000076108		0.498	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0.00	85	0	C	NM_013449		57003984	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	68.42	18	39	SNP	0.036	T
BCL7C	9274	genome.wustl.edu	37	16	30903911	30903911	+	Silent	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr16:30903911C>T	ENST00000215115.4	-	4	1453	c.438G>A	c.(436-438)gaG>gaA	p.E146E	MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Silent_p.E146E|MIR4519_ENST00000570025.1_RNA|MIR762_ENST00000390236.1_RNA|MIR4519_ENST00000565573.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	146	Pro-rich.				apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			TCCTACCTCTCTCTTGGCCCA	0.647																																																	0													27.0	33.0	31.0					16																	30903911		2112	4243	6355	SO:0001819	synonymous_variant	0			AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.438G>A	16.37:g.30903911C>T			O43770|Q6PD89	Missense_Mutation	SNP	pfam_BCL7	p.R99K	ENST00000215115.4	37	c.296	CCDS10693.1	16																																																																																			BCL7C	-	NULL	ENSG00000099385		0.647	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7C	HGNC	protein_coding	OTTHUMT00000255547.3	-	0.00	37	0	C	NM_004765		30903911	-1	tier1	-	no_errors	ENST00000574418	ensembl	human	known	74_37	missense	22.73	33	10	SNP	1.000	T
BET1L	51272	genome.wustl.edu	37	11	180257	180257	+	Missense_Mutation	SNP	T	T	C	rs199807399		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:180257T>C	ENST00000410108.1	-	4	377	c.316A>G	c.(316-318)Act>Gct	p.T106A	RP11-304M2.3_ENST00000527297.1_RNA					Bet1 golgi vesicular membrane trafficking protein-like														all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGAGGAAGTTGAAGCTCCT	0.577											OREG0020655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	0			AF234160	CCDS7689.1, CCDS41582.1	11p15.5	2013-03-08	2013-03-08		ENSG00000177951	ENSG00000177951			19348	protein-coding gene	gene with protein product	"""golgi integral membrane protein 3"""	615417	"""blocked early in transport 1 homolog (S. cerevisiae) like"", ""blocked early in transport 1 homolog (S. cerevisiae)-like"""			9242691, 15004235	Standard	NM_016526		Approved	GS15, GOLIM3	uc001loe.2	Q9NYM9	OTTHUMG00000119071	ENST00000410108.1:c.316A>G	11.37:g.180257T>C	ENSP00000386558:p.Thr106Ala	586		Missense_Mutation	SNP	pfscan_T_SNARE_dom	p.T106A	ENST00000410108.1	37	c.316		11	.	.	.	.	.	.	.	.	.	.	.	3.136	-0.177439	0.06380	.	.	ENSG00000177951	ENST00000410108	.	.	.	.	.	.	.	.	.	.	.	T	0.19406	0.0466	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.16928	-1.0386	2	0.41790	T	0.15	.	.	.	.	.	.	.	.	A	106	.	ENSP00000386558:T106A	T	-	1	0	BET1L	170257	0.010000	0.17322	0.010000	0.14722	0.052000	0.14988	-2.641000	0.00864	-2.418000	0.00566	-2.418000	0.00219	ACT	BET1L	-	NULL	ENSG00000177951		0.577	BET1L-005	PUTATIVE	basic	protein_coding	BET1L	HGNC	protein_coding	OTTHUMT00000335359.1	-	0.00	43	0	T	NM_016526		180257	-1	tier1	rs199807399	no_errors	ENST00000410108	ensembl	human	putative	74_37	missense	45.45	6	5	SNP	0.010	C
ACAD10	80724	genome.wustl.edu	37	12	112123540	112123540	+	5'Flank	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:112123540G>A	ENST00000313698.4	+	0	0				ACAD10_ENST00000392636.2_5'Flank|ACAD10_ENST00000549590.1_5'Flank|ACAD10_ENST00000455480.2_5'Flank|BRAP_ENST00000419234.4_Silent_p.P19P|BRAP_ENST00000327551.6_5'Flank	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10							mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CGAAGCCGGCGGGGACAGGCG	0.711																																																	0													9.0	13.0	11.0					12																	112123540		2140	4159	6299	SO:0001631	upstream_gene_variant	0			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602		12.37:g.112123540G>A	Exception_encountered		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.P19	ENST00000313698.4	37	c.57	CCDS31903.1	12																																																																																			BRAP	-	NULL	ENSG00000089234		0.711	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000368307.1	-	0.00	36	0	G	NM_025247		112123540	-1	tier1	-	no_errors	ENST00000419234	ensembl	human	known	74_37	silent	43.18	25	19	SNP	1.000	A
BRIX1	55299	genome.wustl.edu	37	5	34918517	34918517	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr5:34918517A>T	ENST00000336767.5	+	2	571	c.208A>T	c.(208-210)Ata>Tta	p.I70L	BRIX1_ENST00000506023.1_Intron|RAD1_ENST00000382038.2_5'Flank|RAD1_ENST00000341754.4_Intron	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	70	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTCCAGAGGAATAAATTTTAG	0.299																																																	0													59.0	64.0	63.0					5																	34918517		2203	4298	6501	SO:0001583	missense	0				CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.208A>T	5.37:g.34918517A>T	ENSP00000338862:p.Ile70Leu		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.I70L	ENST00000336767.5	37	c.208	CCDS34143.1	5	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614161	0.87359	.	.	ENSG00000113460	ENST00000336767	T	0.41400	1.0	5.71	5.71	0.89125	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	M	0.79614	2.46	0.80722	D	1	P;B	0.40282	0.711;0.333	P;B	0.49953	0.627;0.348	T	0.57682	-0.7769	10	0.38643	T	0.18	-24.9493	15.1623	0.72793	1.0:0.0:0.0:0.0	.	70;70	B4E0B8;Q8TDN6	.;BRX1_HUMAN	L	70	ENSP00000338862:I70L	ENSP00000338862:I70L	I	+	1	0	BRIX1	34954274	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.802000	0.62539	2.179000	0.69175	0.379000	0.24179	ATA	BRIX1	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	ENSG00000113460		0.299	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIX1	HGNC	protein_coding	OTTHUMT00000366826.2	-	0.00	160	0	A	NM_018321		34918517	+1	tier1	-	no_errors	ENST00000336767	ensembl	human	known	74_37	missense	65.78	103	198	SNP	1.000	T
BSN	8927	genome.wustl.edu	37	3	49700504	49700504	+	Missense_Mutation	SNP	G	G	A	rs147167809	byFrequency	TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:49700504G>A	ENST00000296452.4	+	7	11027	c.10913G>A	c.(10912-10914)cGc>cAc	p.R3638H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3638					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCCCAGGCCGCCATGCCTCA	0.672																																																	0								G	HIS/ARG	2,4402	4.2+/-10.8	0,2,2200	27.0	27.0	27.0		10913	5.1	1.0	3	dbSNP_134	27	0,8596		0,0,4298	no	missense	BSN	NM_003458.3	29	0,2,6498	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	3638/3927	49700504	2,12998	2202	4298	6500	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10913G>A	3.37:g.49700504G>A	ENSP00000296452:p.Arg3638His		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R3638H	ENST00000296452.4	37	c.10913	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441173	0.43326	4.54E-4	0.0	ENSG00000164061	ENST00000296452	T	0.25414	1.8	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.51317	-0.8721	10	0.87932	D	0	-13.6666	18.0102	0.89221	0.0:0.0:1.0:0.0	.	3638	Q9UPA5	BSN_HUMAN	H	3638	ENSP00000296452:R3638H	ENSP00000296452:R3638H	R	+	2	0	BSN	49675508	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.409000	0.66374	2.334000	0.79466	0.591000	0.81541	CGC	BSN	-	NULL	ENSG00000164061		0.672	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	-	0.00	42	0	G	NM_003458		49700504	+1	tier1	rs147167809	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	48.65	19	18	SNP	1.000	A
FOXL2NB	401089	genome.wustl.edu	37	3	138669212	138669212	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:138669212C>T	ENST00000383165.3	+	3	457	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		109										large_intestine(1)|lung(3)	4						GGCAGCGCTTCGCTAGAACCA	0.701																																																	0													12.0	18.0	16.0					3																	138669212		1821	4056	5877	SO:0001583	missense	0																														ENST00000383165.3:c.326C>T	3.37:g.138669212C>T	ENSP00000372651:p.Ser109Leu		A6NGX0	Missense_Mutation	SNP	NULL	p.S109L	ENST00000383165.3	37	c.326	CCDS43155.1	3	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261034	0.39995	.	.	ENSG00000206262	ENST00000383165	.	.	.	2.91	-5.82	0.02333	.	.	.	.	.	T	0.12050	0.0293	N	0.19112	0.55	0.09310	N	1	B	0.33494	0.414	B	0.20577	0.03	T	0.10064	-1.0646	8	0.87932	D	0	.	1.3992	0.02267	0.1291:0.2185:0.3317:0.3207	.	109	Q6ZUU3	CC072_HUMAN	L	109	.	ENSP00000372651:S109L	S	+	2	0	C3orf72	140151902	0.000000	0.05858	0.000000	0.03702	0.338000	0.28826	-0.809000	0.04510	-1.950000	0.01030	0.555000	0.69702	TCG	C3orf72	-	NULL	ENSG00000206262		0.701	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf72	HGNC	protein_coding	OTTHUMT00000357986.1	-	0.00	19	0	C			138669212	+1	tier1	-	no_errors	ENST00000383165	ensembl	human	known	74_37	missense	65.85	14	27	SNP	0.000	T
C5orf47	133491	genome.wustl.edu	37	5	173426803	173426803	+	Splice_Site	SNP	G	G	T	rs567525763	byFrequency	TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr5:173426803G>T	ENST00000340147.6	+	3	616		c.e3+1		C5orf47_ENST00000522195.1_Intron	NM_001144954.1	NP_001138426.1	Q569G3	CE047_HUMAN	chromosome 5 open reading frame 47											kidney(1)|prostate(1)	2						TCTAGTGAAAGTAAGTTAACA	0.313																																																	0													81.0	67.0	71.0					5																	173426803		692	1588	2280	SO:0001630	splice_region_variant	0				CCDS47343.1	5q35.2	2012-02-24			ENSG00000185056	ENSG00000185056			27026	protein-coding gene	gene with protein product						12477932	Standard	NM_001144954		Approved	LOC133491	uc003mcw.4	Q569G3	OTTHUMG00000163349	ENST00000340147.6:c.511+1G>T	5.37:g.173426803G>T			Q8IYU7	Splice_Site	SNP	-	e3+1	ENST00000340147.6	37	c.511+1	CCDS47343.1	5	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380544	0.61845	.	.	ENSG00000185056	ENST00000340147	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9011	0.58125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C5orf47	173359409	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	4.761000	0.62243	2.505000	0.84491	0.655000	0.94253	.	C5orf47	-	-	ENSG00000185056		0.313	C5orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf47	HGNC	protein_coding	OTTHUMT00000372926.1		0.00	64	0	G	NM_001144954	Intron	173426803	+1			no_errors	ENST00000340147	ensembl	human	known	74_37	splice_site	6.82	41	3	SNP	0.998	T
CATSPER1	117144	genome.wustl.edu	37	11	65793409	65793409	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:65793409G>C	ENST00000312106.5	-	1	579	c.442C>G	c.(442-444)Cac>Gac	p.H148D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	148	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|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)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCCATGGTGAGACCCCCTA	0.562																																																	0													65.0	56.0	59.0					11																	65793409		2201	4296	6497	SO:0001583	missense	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.442C>G	11.37:g.65793409G>C	ENSP00000309052:p.His148Asp		Q96P76	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.H148D	ENST00000312106.5	37	c.442	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688751	0.29962	.	.	ENSG00000175294	ENST00000312106	D	0.97831	-4.56	2.85	0.356	0.16074	.	1.802300	0.03494	N	0.217090	D	0.97483	0.9176	M	0.66939	2.045	0.09310	N	1	D	0.61080	0.989	P	0.52554	0.702	D	0.90342	0.4360	10	0.66056	D	0.02	0.1606	7.0128	0.24871	0.2927:0.0:0.7072:0.0	.	148	Q8NEC5	CTSR1_HUMAN	D	148	ENSP00000309052:H148D	ENSP00000309052:H148D	H	-	1	0	CATSPER1	65549985	0.005000	0.15991	0.000000	0.03702	0.011000	0.07611	0.761000	0.26489	0.064000	0.16427	0.313000	0.20887	CAC	CATSPER1	-	NULL	ENSG00000175294		0.562	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	-	0.00	52	0	G	NM_053054		65793409	-1	tier1	-	no_errors	ENST00000312106	ensembl	human	known	74_37	missense	37.93	36	22	SNP	0.000	C
CCDC146	57639	genome.wustl.edu	37	7	76908384	76908384	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:76908384G>C	ENST00000285871.4	+	13	1787	c.1660G>C	c.(1660-1662)Gaa>Caa	p.E554Q	CCDC146_ENST00000431197.1_Missense_Mutation_p.E268Q|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	554										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAATGAACTTGAAATTCTGAG	0.294																																																	0													67.0	66.0	66.0					7																	76908384		2202	4300	6502	SO:0001583	missense	0			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1660G>C	7.37:g.76908384G>C	ENSP00000285871:p.Glu554Gln		A8K8X6|Q9P223	Missense_Mutation	SNP	NULL	p.E554Q	ENST00000285871.4	37	c.1660	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289296	0.80914	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.36520	1.25;1.25	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	L	0.52759	1.655	0.53005	D	0.999967	D;D	0.65815	0.995;0.991	P;P	0.60173	0.87;0.861	T	0.34625	-0.9821	10	0.26408	T	0.33	-20.5612	18.6355	0.91376	0.0:0.0:1.0:0.0	.	268;554	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	Q	554;268	ENSP00000285871:E554Q;ENSP00000413885:E268Q	ENSP00000285871:E554Q	E	+	1	0	AC007000.1	76746320	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.192000	0.58378	2.474000	0.83562	0.563000	0.77884	GAA	CCDC146	-	NULL	ENSG00000135205		0.294	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	-	0.00	150	0	G	NM_020879		76908384	+1	tier1	-	no_errors	ENST00000285871	ensembl	human	known	74_37	missense	42.06	73	53	SNP	1.000	C
CCDC88B	283234	genome.wustl.edu	37	11	64108393	64108393	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:64108393G>A	ENST00000356786.5	+	3	265	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	74						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCAGCTCCCGAGGGGGACCT	0.677																																																	0													50.0	57.0	55.0					11																	64108393		2201	4297	6498	SO:0001583	missense	0			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.221G>A	11.37:g.64108393G>A	ENSP00000349238:p.Arg74Gln		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_Hook-related_fam	p.R74Q	ENST00000356786.5	37	c.221	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	.	20.2	3.946832	0.73672	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.16743	2.32	3.59	2.67	0.31697	.	.	.	.	.	T	0.12178	0.0296	N	0.16166	0.38	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.52454	0.699;0.699	T	0.17806	-1.0357	9	0.11182	T	0.66	.	6.8383	0.23949	0.1305:0.0:0.8695:0.0	.	74;74	B2RTU8;A6NC98	.;CC88B_HUMAN	Q	74	ENSP00000349238:R74Q	ENSP00000349238:R74Q	R	+	2	0	CCDC88B	63864969	0.996000	0.38824	0.932000	0.37286	0.039000	0.13416	2.153000	0.42282	0.873000	0.35799	0.485000	0.47835	CGA	CCDC88B	-	pfam_Hook-related_fam	ENSG00000168071		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	-	0.00	91	0	G	NM_032251		64108393	+1	tier1	-	no_errors	ENST00000356786	ensembl	human	known	74_37	missense	48.96	49	47	SNP	0.998	A
CD4	920	genome.wustl.edu	37	12	6909240	6909240	+	5'UTR	SNP	C	C	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:6909240C>G	ENST00000011653.4	+	0	194				CD4_ENST00000541982.1_5'UTR|CD4_ENST00000538827.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TCCCTCAGGCCCTGCCATTTC	0.572																																																	0													31.0	32.0	32.0					12																	6909240		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.-65C>G	12.37:g.6909240C>G			B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	RNA	SNP	-	NULL	ENST00000011653.4	37	NULL	CCDS8562.1	12																																																																																			CD4	-	-	ENSG00000010610		0.572	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	-	0.00	92	0	C	NM_000616		6909240	+1	tier1	-	no_errors	ENST00000535466	ensembl	human	known	74_37	rna	55.42	36	46	SNP	0.000	G
CDC37L1	55664	genome.wustl.edu	37	9	4685165	4685165	+	Intron	SNP	G	G	T	rs201417825		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:4685165G>T	ENST00000381854.3	+	2	616				CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Intron	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1							cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TAAGGTATGAGCTTTTACTGG	0.408																																																	0													87.0	90.0	89.0					9																	4685165		2203	4300	6503	SO:0001627	intron_variant	0			AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.414+7G>T	9.37:g.4685165G>T			B1AL70|Q9NWS3|Q9NX16	RNA	SNP	-	NULL	ENST00000381854.3	37	NULL	CCDS6454.1	9																																																																																			CDC37L1	-	-	ENSG00000106993		0.408	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC37L1	HGNC	protein_coding	OTTHUMT00000051564.1	-	0.00	117	0	G	NM_017913		4685165	+1	tier1	-	no_errors	ENST00000479095	ensembl	human	known	74_37	rna	5.71	66	4	SNP	0.000	T
CDCA2	157313	genome.wustl.edu	37	8	25340994	25340994	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:25340994A>G	ENST00000330560.3	+	9	1589	c.1112A>G	c.(1111-1113)aAa>aGa	p.K371R	CDCA2_ENST00000380665.3_Missense_Mutation_p.K356R|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	371					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TGCAAAGAGAAAGAAGCAGGT	0.308																																																	0													78.0	76.0	77.0					8																	25340994		2203	4298	6501	SO:0001583	missense	0			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1112A>G	8.37:g.25340994A>G	ENSP00000328228:p.Lys371Arg		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	NULL	p.K371R	ENST00000330560.3	37	c.1112	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.318538	0.01320	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.31510	1.49;1.49	5.19	-7.51	0.01346	.	0.785958	0.11516	N	0.556231	T	0.08179	0.0204	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.32134	-0.9918	10	0.12103	T	0.63	-0.1445	4.6871	0.12762	0.2454:0.1214:0.5139:0.1193	.	371;356;371	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	R	371;356	ENSP00000328228:K371R;ENSP00000370040:K356R	ENSP00000328228:K371R	K	+	2	0	CDCA2	25396911	0.701000	0.27806	0.240000	0.24138	0.002000	0.02628	-0.223000	0.09177	-1.108000	0.03000	-0.280000	0.10049	AAA	CDCA2	-	NULL	ENSG00000184661		0.308	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	-	0.00	173	0	A	NM_152562		25340994	+1	tier1	-	no_errors	ENST00000330560	ensembl	human	known	74_37	missense	65.14	38	71	SNP	0.090	G
CDH10	1008	genome.wustl.edu	37	5	24509822	24509822	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr5:24509822A>G	ENST00000264463.4	-	7	1616	c.1109T>C	c.(1108-1110)aTa>aCa	p.I370T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATTTTCACTATGGTAGTATC	0.383										HNSCC(23;0.051)																																							0													84.0	86.0	86.0					5																	24509822		2203	4300	6503	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1109T>C	5.37:g.24509822A>G	ENSP00000264463:p.Ile370Thr		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I370T	ENST00000264463.4	37	c.1109	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	A	1.268	-0.613837	0.03690	.	.	ENSG00000040731	ENST00000264463	T	0.01947	4.54	5.26	5.26	0.73747	Cadherin (3);Cadherin-like (1);	0.158399	0.56097	D	0.000036	T	0.00666	0.0022	N	0.00382	-1.575	0.42167	D	0.991627	B	0.02656	0.0	B	0.06405	0.002	T	0.43686	-0.9376	10	0.02654	T	1	.	9.2157	0.37346	0.9188:0.0:0.0812:0.0	.	370	Q9Y6N8	CAD10_HUMAN	T	370	ENSP00000264463:I370T	ENSP00000264463:I370T	I	-	2	0	CDH10	24545579	1.000000	0.71417	0.973000	0.42090	0.864000	0.49448	3.965000	0.56788	2.121000	0.65114	0.528000	0.53228	ATA	CDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.383	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0.00	90	0	A	NM_006727		24509822	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	19.42	112	27	SNP	1.000	G
CEACAM18	729767	genome.wustl.edu	37	19	51983739	51983739	+	Missense_Mutation	SNP	G	G	A	rs371514477		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:51983739G>A	ENST00000396477.4	+	2	226	c.205G>A	c.(205-207)Gca>Aca	p.A69T	CEACAM18_ENST00000451626.1_Missense_Mutation_p.A130T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	69								p.A130T(1)|p.A69T(1)		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)		AAACGACAGCGCAGGAAACAT	0.562																																																	2	Substitution - Missense(2)	large_intestine(2)											62.0	62.0	62.0					19																	51983739		2034	4190	6224	SO:0001583	missense	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.205G>A	19.37:g.51983739G>A	ENSP00000379738:p.Ala69Thr		C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A130T	ENST00000396477.4	37	c.388		19	.	.	.	.	.	.	.	.	.	.	.	4.142	0.024773	0.08054	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.64618	-0.11	2.79	0.64	0.17752	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37919	0.1021	N	0.16266	0.395	0.09310	N	1	B	0.17667	0.023	B	0.17722	0.019	T	0.20940	-1.0260	9	0.13853	T	0.58	0.5418	4.71	0.12868	0.3076:0.0:0.6924:0.0	.	130	A8MTB9	CEA18_HUMAN	T	130;69;69	ENSP00000402203:A130T	ENSP00000379738:A69T	A	+	1	0	CEACAM18	56675551	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.450000	0.21762	0.275000	0.22094	-0.141000	0.14075	GCA	CEACAM18	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000213822		0.562	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0.00	94	0	G			51983739	+1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	missense	33.98	68	35	SNP	0.000	A
CELSR2	1952	genome.wustl.edu	37	1	109793875	109793875	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:109793875G>T	ENST00000271332.3	+	1	1235	c.1174G>T	c.(1174-1176)Gac>Tac	p.D392Y		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	392	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTGGAGGATGACAATGATAA	0.582																																					NSCLC(158;1285 2011 34800 34852 42084)												0													70.0	77.0	74.0					1																	109793875		2203	4300	6503	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1174G>T	1.37:g.109793875G>T	ENSP00000271332:p.Asp392Tyr		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,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.D392Y	ENST00000271332.3	37	c.1174	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	22.0	4.225134	0.79576	.	.	ENSG00000143126	ENST00000271332	T	0.01767	4.65	4.99	4.99	0.66335	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.03608	0.0103	L	0.45422	1.42	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.65857	-0.6066	9	0.30078	T	0.28	.	18.5303	0.90989	0.0:0.0:1.0:0.0	.	392	Q9HCU4	CELR2_HUMAN	Y	392	ENSP00000271332:D392Y	ENSP00000271332:D392Y	D	+	1	0	CELSR2	109595398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.626000	0.88956	0.555000	0.69702	GAC	CELSR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000143126		0.582	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0.00	100	0	G	NM_001408		109793875	+1			no_errors	ENST00000271332	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T
CEP164	22897	genome.wustl.edu	37	11	117282842	117282842	+	Silent	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:117282842G>T	ENST00000278935.3	+	33	4488	c.4341G>T	c.(4339-4341)ctG>ctT	p.L1447L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1447					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCCTGCAGCTGGGCCTTGATG	0.587																																																	0													87.0	76.0	80.0					11																	117282842		2201	4296	6497	SO:0001819	synonymous_variant	0			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4341G>T	11.37:g.117282842G>T			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.L1447	ENST00000278935.3	37	c.4341	CCDS31683.1	11																																																																																			CEP164	-	NULL	ENSG00000110274		0.587	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	-	0.00	44	0	G	NM_014956		117282842	+1	tier1	-	no_errors	ENST00000278935	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T
CHMP5	51510	genome.wustl.edu	37	9	33266059	33266059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:33266059G>T	ENST00000223500.8	+	2	258	c.121G>T	c.(121-123)Gag>Tag	p.E41*	BAG1_ENST00000472232.3_5'Flank|CHMP5_ENST00000419016.2_Nonsense_Mutation_p.E41*|BAG1_ENST00000379704.2_5'Flank	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	41					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			ATTGGATGCTGAGCTAGTGAA	0.448																																																	0													91.0	83.0	85.0					9																	33266059		2203	4299	6502	SO:0001587	stop_gained	0			AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.121G>T	9.37:g.33266059G>T	ENSP00000223500:p.Glu41*		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Nonsense_Mutation	SNP	pfam_Snf7	p.E41*	ENST00000223500.8	37	c.121	CCDS6537.1	9	.	.	.	.	.	.	.	.	.	.	G	38	6.811485	0.97857	.	.	ENSG00000086065	ENST00000223500;ENST00000419016	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.5265	17.0103	0.86404	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000223500:E41X	E	+	1	0	CHMP5	33256059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.349000	0.97066	2.610000	0.88304	0.462000	0.41574	GAG	CHMP5	-	pfam_Snf7	ENSG00000086065		0.448	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP5	HGNC	protein_coding	OTTHUMT00000052040.3	-	0.00	55	0	G	NM_016410		33266059	+1	tier1	-	no_errors	ENST00000223500	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	T
CLK2	1196	genome.wustl.edu	37	1	155239248	155239248	+	Intron	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:155239248G>A	ENST00000368361.4	-	3	715				CLK2_ENST00000536801.1_Intron|CLK2_ENST00000355560.4_Intron|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000361168.5_Intron			P49760	CLK2_HUMAN	CDC-like kinase 2						negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCAGAAGAGTGGGGAGAGGAA	0.602								Other conserved DNA damage response genes																																									0													31.0	30.0	30.0					1																	155239248		2203	4300	6503	SO:0001627	intron_variant	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.399+30C>T	1.37:g.155239248G>A			B1AVS9|B5MBX6|Q96CQ0	RNA	SNP	-	NULL	ENST00000368361.4	37	NULL		1																																																																																			CLK2	-	-	ENSG00000176444		0.602	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	-	0.00	35	0	G	NM_003993		155239248	-1	tier1	-	no_errors	ENST00000484699	ensembl	human	known	74_37	rna	38.10	38	24	SNP	0.520	A
CHRM3	1131	genome.wustl.edu	37	1	240072316	240072316	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:240072316C>G	ENST00000255380.4	+	5	2344	c.1565C>G	c.(1564-1566)cCc>cGc	p.P522R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	522	Agonist binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|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)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AGCTGCATACCCAAAACCTTT	0.502																																																	0													138.0	115.0	122.0					1																	240072316		2203	4300	6503	SO:0001583	missense	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1565C>G	1.37:g.240072316C>G	ENSP00000255380:p.Pro522Arg		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.P522R	ENST00000255380.4	37	c.1565	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872303	0.72180	.	.	ENSG00000133019	ENST00000255380	T	0.39056	1.1	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70842	0.3270	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74688	-0.3581	10	0.87932	D	0	-22.5792	19.8984	0.96975	0.0:1.0:0.0:0.0	.	522	P20309	ACM3_HUMAN	R	522	ENSP00000255380:P522R	ENSP00000255380:P522R	P	+	2	0	CHRM3	238138939	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	CCC	CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt	ENSG00000133019		0.502	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0.00	73	0	C	NM_000740		240072316	+1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	missense	35.05	63	34	SNP	1.000	G
CLTCL1	8218	genome.wustl.edu	37	22	19210297	19210297	+	Silent	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr22:19210297G>A	ENST00000263200.10	-	15	2400	c.2328C>T	c.(2326-2328)atC>atT	p.I776I	CLTCL1_ENST00000353891.5_Silent_p.I776I|CLTCL1_ENST00000427926.1_Silent_p.I776I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	776	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.I776I(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GATCACACACGATGATGAGGG	0.502			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	1	Substitution - coding silent(1)	endometrium(1)											98.0	101.0	100.0					22																	19210297		2109	4216	6325	SO:0001819	synonymous_variant	0				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2328C>T	22.37:g.19210297G>A			B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.I776	ENST00000263200.10	37	c.2328	CCDS46662.1	22																																																																																			CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.502	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	-	0.00	84	0	G	NM_007098		19210297	-1	tier1	-	no_errors	ENST00000263200	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.911	A
CNN3	1266	genome.wustl.edu	37	1	95367275	95367275	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:95367275G>A	ENST00000370206.4	-	5	834	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	CNN3_ENST00000394202.4_Missense_Mutation_p.R105C|CNN3_ENST00000545882.1_Missense_Mutation_p.R110C|CNN3_ENST00000538964.1_Missense_Mutation_p.R151C|CNN3_ENST00000487539.1_5'UTR	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	151					actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TCATCAAAACGTCTTGTTTGT	0.343																																																	0													132.0	114.0	120.0					1																	95367275		2203	4300	6503	SO:0001583	missense	0			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.451C>T	1.37:g.95367275G>A	ENSP00000359225:p.Arg151Cys		B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.R151C	ENST00000370206.4	37	c.451	CCDS30775.1	1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504056	0.44558	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882;ENST00000415017	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.94;0.94	5.63	5.63	0.86233	Calponin homology domain (2);	0.235841	0.45867	D	0.000333	T	0.32852	0.0843	L	0.27053	0.805	0.46901	D	0.999243	B;B	0.11235	0.004;0.0	B;B	0.12837	0.008;0.0	T	0.23976	-1.0173	10	0.62326	D	0.03	-3.9327	14.4083	0.67099	0.0:0.0:0.8167:0.1833	.	105;151	F8WA86;Q15417	.;CNN3_HUMAN	C	151;151;105;110;110	ENSP00000359225:R151C;ENSP00000437665:R151C;ENSP00000377752:R105C;ENSP00000440081:R110C;ENSP00000401452:R110C	ENSP00000359225:R151C	R	-	1	0	CNN3	95139863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.049000	0.57397	2.633000	0.89246	0.650000	0.86243	CGT	CNN3	-	superfamily_CH-domain	ENSG00000117519		0.343	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN3	HGNC	protein_coding	OTTHUMT00000029702.2		0.00	66	0	G	NM_001839		95367275	-1			no_errors	ENST00000370206	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A
COL18A1	80781	genome.wustl.edu	37	21	46888269	46888269	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr21:46888269G>T	ENST00000359759.4	+	2	1486	c.1465G>T	c.(1465-1467)Gcc>Tcc	p.A489S	COL18A1_ENST00000400337.2_Missense_Mutation_p.A74S|COL18A1_ENST00000355480.5_Missense_Mutation_p.A254S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	489	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGGCCAGATGCCAACAGTGG	0.667																																																	0													73.0	84.0	81.0					21																	46888269		2042	4179	6221	SO:0001583	missense	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1465G>T	21.37:g.46888269G>T	ENSP00000352798:p.Ala489Ser		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.A489S	ENST00000359759.4	37	c.1465		21	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739905	0.15642	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.02085	4.46;4.46;4.46	4.65	2.77	0.32553	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.275572	0.34025	N	0.004331	T	0.01800	0.0057	L	0.28274	0.84	0.37706	D	0.924404	P;B;B	0.36753	0.568;0.275;0.275	B;B;B	0.36608	0.229;0.096;0.096	T	0.63492	-0.6625	10	0.18276	T	0.48	.	8.0032	0.30310	0.0867:0.0:0.7498:0.1635	.	489;254;74	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	S	74;74;254;489;489	ENSP00000383191:A74S;ENSP00000347665:A254S;ENSP00000352798:A489S	ENSP00000347665:A254S	A	+	1	0	COL18A1	45712697	0.921000	0.31238	0.152000	0.22495	0.081000	0.17604	1.305000	0.33493	0.452000	0.26830	0.655000	0.94253	GCC	COL18A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000182871		0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1		0.00	91	0	G			46888269	+1			no_errors	ENST00000359759	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.968	T
COL28A1	340267	genome.wustl.edu	37	7	7413142	7413142	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:7413142G>T	ENST00000399429.3	-	32	2535	c.2395C>A	c.(2395-2397)Ctg>Atg	p.L799M		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	799	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACAAACACCAGCTCTAGTGGA	0.453																																																	0													82.0	83.0	82.0					7																	7413142		1861	4099	5960	SO:0001583	missense	0			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2395C>A	7.37:g.7413142G>T	ENSP00000382356:p.Leu799Met		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.L799M	ENST00000399429.3	37	c.2395	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421204	0.62622	.	.	ENSG00000215018	ENST00000399429	D	0.86432	-2.12	4.44	3.5	0.40072	von Willebrand factor, type A (3);	0.236112	0.27172	U	0.020581	D	0.92312	0.7561	M	0.83852	2.665	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.90606	0.4548	10	0.34782	T	0.22	-4.7329	9.7984	0.40748	0.1118:0.0:0.8882:0.0	.	799	Q2UY09	COSA1_HUMAN	M	799	ENSP00000382356:L799M	ENSP00000382356:L799M	L	-	1	2	COL28A1	7379667	1.000000	0.71417	0.972000	0.41901	0.775000	0.43874	5.394000	0.66285	1.060000	0.40578	0.655000	0.94253	CTG	COL28A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000215018		0.453	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1		0.00	51	0	G	NM_001037763		7413142	-1			no_errors	ENST00000399429	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T
CRYBA4	1413	genome.wustl.edu	37	22	27026481	27026481	+	3'UTR	SNP	G	G	A	rs376812109		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr22:27026481G>A	ENST00000354760.3	+	0	656				CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4						camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GAGCGCATGCGTGCTTATCTG	0.607																																																	0								G		0,4406		0,0,2203	27.0	24.0	25.0			-4.2	0.0	22		25	1,8599	1.2+/-3.3	0,1,4299	no	utr-3	CRYBA4	NM_001886.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			27026481	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.*30G>A	22.37:g.27026481G>A			Q4VB22|Q6ICE4	RNA	SNP	-	NULL	ENST00000354760.3	37	NULL	CCDS13841.1	22																																																																																			CRYBA4	-	-	ENSG00000196431		0.607	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA4	HGNC	protein_coding	OTTHUMT00000320793.1	-	0.00	51	0	G	NM_001886		27026481	+1	tier1	-	no_errors	ENST00000466315	ensembl	human	known	74_37	rna	25.49	38	13	SNP	0.000	A
CTNND1	1500	genome.wustl.edu	37	11	57564314	57564314	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:57564314G>C	ENST00000399050.4	+	6	1342	c.806G>C	c.(805-807)aGc>aCc	p.S269T	CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.S269T|CTNND1_ENST00000530748.1_Missense_Mutation_p.S215T|CTNND1_ENST00000361391.6_Missense_Mutation_p.S269T|CTNND1_ENST00000529986.1_Missense_Mutation_p.S168T|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532649.1_Missense_Mutation_p.S215T|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.S269T|CTNND1_ENST00000530094.1_Missense_Mutation_p.S168T|CTNND1_ENST00000360682.6_Missense_Mutation_p.S269T|CTNND1_ENST00000529526.1_Missense_Mutation_p.S215T|CTNND1_ENST00000528232.1_Missense_Mutation_p.S168T|CTNND1_ENST00000361332.4_Missense_Mutation_p.S269T|CTNND1_ENST00000524630.1_Missense_Mutation_p.S269T|CTNND1_ENST00000428599.2_Missense_Mutation_p.S269T|CTNND1_ENST00000532463.1_Missense_Mutation_p.S168T|CTNND1_ENST00000426142.2_Missense_Mutation_p.S168T|CTNND1_ENST00000532844.1_Missense_Mutation_p.S215T|CTNND1_ENST00000529919.1_Missense_Mutation_p.S269T|CTNND1_ENST00000532787.1_Missense_Mutation_p.S168T|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000534579.1_Missense_Mutation_p.S215T|CTNND1_ENST00000526938.1_Missense_Mutation_p.S269T|CTNND1_ENST00000526357.1_Missense_Mutation_p.S215T|CTNND1_ENST00000358694.6_Missense_Mutation_p.S269T|CTNND1_ENST00000528621.1_Missense_Mutation_p.S215T|CTNND1_ENST00000532245.1_Missense_Mutation_p.S168T|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000415361.2_Missense_Mutation_p.S168T|CTNND1_ENST00000529873.1_Missense_Mutation_p.S215T	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	269					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGTGGGAGCAGCGTGGATCTG	0.542																																																	0													139.0	149.0	146.0					11																	57564314		2131	4250	6381	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.806G>C	11.37:g.57564314G>C	ENSP00000382004:p.Ser269Thr		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S269T	ENST00000399050.4	37	c.806	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261360	0.39995	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71698	-0.23;-0.22;-0.22;-0.59;-0.23;-0.23;-0.14;-0.23;-0.59;-0.23;-0.14;-0.14;-0.23;-0.48;-0.23;-0.23;-0.23;-0.23;-0.14;-0.59;-0.23;-0.23;-0.23;-0.23;-0.14;-0.23;-0.59;2.24	5.92	5.92	0.95590	Armadillo-like helical (1);	0.201190	0.53938	D	0.000048	T	0.49949	0.1587	N	0.14661	0.345	0.30281	N	0.791359	B;B;B;B;B;B;B;B	0.26547	0.152;0.152;0.094;0.152;0.152;0.044;0.152;0.094	B;B;B;B;B;B;B;B	0.18871	0.014;0.023;0.01;0.023;0.023;0.014;0.023;0.006	T	0.46317	-0.9200	10	0.15952	T	0.53	-0.552	11.6196	0.51111	0.1109:0.0:0.8891:0.0	.	269;269;269;215;215;269;269;269	O60716-3;O60716-2;O60716;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.	T	269;269;269;269;269;215;168;269;269;269;168;168;269;168;215;215;215;269;168;215;215;215;168;168;168;215;269;191	ENSP00000436543:S269T;ENSP00000434808:S269T;ENSP00000381996:S269T;ENSP00000353902:S269T;ENSP00000354907:S269T;ENSP00000436323:S215T;ENSP00000409930:S168T;ENSP00000382004:S269T;ENSP00000354785:S269T;ENSP00000354823:S269T;ENSP00000432075:S168T;ENSP00000437156:S168T;ENSP00000351527:S269T;ENSP00000434949:S168T;ENSP00000435379:S215T;ENSP00000432243:S215T;ENSP00000436744:S215T;ENSP00000413586:S269T;ENSP00000435266:S168T;ENSP00000435494:S215T;ENSP00000433276:S215T;ENSP00000433334:S215T;ENSP00000437327:S168T;ENSP00000403518:S168T;ENSP00000434017:S168T;ENSP00000435789:S215T;ENSP00000432041:S269T;ENSP00000434202:S191T	ENSP00000351527:S269T	S	+	2	0	CTNND1	57320890	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	4.805000	0.62561	2.805000	0.96524	0.655000	0.94253	AGC	CTNND1	-	NULL	ENSG00000198561		0.542	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0.00	90	0	G	NM_001331		57564314	+1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	46.25	43	37	SNP	0.986	C
CYP2E1	1571	genome.wustl.edu	37	10	135351256	135351256	+	Splice_Site	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr10:135351256G>A	ENST00000463117.2	+	10	1429	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	CYP2E1_ENST00000252945.3_Splice_Site_p.G386D|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	386					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTCTCCTAGGGCACAGTCGTA	0.403									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													87.0	81.0	83.0					10																	135351256		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1156-1G>A	10.37:g.135351256G>A			Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G386D	ENST00000463117.2	37	c.1157	CCDS7686.1	10	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980488	0.34942	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.87	4.87	0.63330	.	0.193227	0.56097	N	0.000040	T	0.81293	0.4792	L	0.49256	1.55	0.38385	D	0.945248	D;P	0.55605	0.972;0.94	P;P	0.54629	0.757;0.539	T	0.83221	-0.0068	10	0.51188	T	0.08	.	15.905	0.79419	0.0:0.0:1.0:0.0	.	282;386	Q59EW1;P05181	.;CP2E1_HUMAN	D	386;386;299;249	ENSP00000440689:G386D;ENSP00000252945:G386D;ENSP00000412754:G299D;ENSP00000397299:G249D	ENSP00000252945:G386D	G	+	2	0	CYP2E1	135201246	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	2.388000	0.44398	2.702000	0.92279	0.650000	0.86243	GGC	CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B	ENSG00000130649		0.403	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	-	0.00	93	0	G	NM_000773	Missense_Mutation	135351256	+1	tier1	-	no_errors	ENST00000252945	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A
DCC	1630	genome.wustl.edu	37	18	50923684	50923684	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr18:50923684G>A	ENST00000442544.2	+	18	3311	c.2695G>A	c.(2695-2697)Gac>Aac	p.D899N	DCC_ENST00000581580.1_Missense_Mutation_p.D534N|DCC_ENST00000412726.1_Missense_Mutation_p.D727N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	899	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATAGTCAGAAGACACAACATC	0.338																																																	0													102.0	93.0	96.0					18																	50923684		2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2695G>A	18.37:g.50923684G>A	ENSP00000389140:p.Asp899Asn			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D899N	ENST00000442544.2	37	c.2695	CCDS11952.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.517067|2.517067	0.44763|0.44763	.|.	.|.	ENSG00000187323|ENSG00000187323	ENST00000442544;ENST00000412726|ENST00000304775	T;T|T	0.58358|0.48836	0.34;0.34|0.8	5.8|5.8	5.8|5.8	0.92144|0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.24198|0.24198	0.0586|0.0586	N|N	0.00793|0.00793	-1.18|-1.18	0.58432|0.58432	D|D	0.999996|0.999996	B;B;B|.	0.12013|.	0.001;0.001;0.005|.	B;B;B|.	0.16722|.	0.006;0.006;0.016|.	T|T	0.35025|0.35025	-0.9805|-0.9805	10|7	0.02654|0.15066	T|T	1|0.55	.|.	18.8301|18.8301	0.92135|0.92135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	727;727;899|.	E7EQM8;B4DYX2;P43146|.	.;.;DCC_HUMAN|.	N|K	899;727|754	ENSP00000389140:D899N;ENSP00000397322:D727N|ENSP00000304146:R754K	ENSP00000397322:D727N|ENSP00000304146:R754K	D|R	+|+	1|2	0|0	DCC|DCC	49177682|49177682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.118000|4.118000	0.57884|0.57884	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	GAC|AGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.338	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0.00	104	0	G	NM_005215		50923684	+1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	19.59	78	19	SNP	1.000	A
DDX50	79009	genome.wustl.edu	37	10	70700818	70700818	+	Silent	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr10:70700818G>A	ENST00000373585.3	+	13	1865	c.1758G>A	c.(1756-1758)ggG>ggA	p.G586G	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	586						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TCCTTAAGGGGTTTGTGACCA	0.378																																																	0													74.0	74.0	74.0					10																	70700818		2203	4300	6503	SO:0001819	synonymous_variant	0			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1758G>A	10.37:g.70700818G>A			Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G586	ENST00000373585.3	37	c.1758	CCDS7283.1	10																																																																																			DDX50	-	pfam_GUCT	ENSG00000107625		0.378	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	-	0.00	92	0	G	NM_024045		70700818	+1	tier1	-	no_errors	ENST00000373585	ensembl	human	known	74_37	silent	60.32	25	38	SNP	0.715	A
DGCR6L	85359	genome.wustl.edu	37	22	20307414	20307414	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr22:20307414T>C	ENST00000248879.3	-	1	189	c.98A>G	c.(97-99)aAg>aGg	p.K33R	DGCR6L_ENST00000405465.3_Missense_Mutation_p.K33R|XXbac-B444P24.14_ENST00000609632.1_lincRNA|XXbac-B444P24.13_ENST00000608275.1_RNA	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	33						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					GGGCAACTCCTTCACCAGGCT	0.716																																																	0													19.0	19.0	19.0					22																	20307414		2198	4294	6492	SO:0001583	missense	0			AF228708	CCDS13778.1	22q11.21	2013-02-19			ENSG00000128185	ENSG00000128185			18551	protein-coding gene	gene with protein product		609459				11157784	Standard	NM_033257		Approved	FLJ10666	uc002zrx.3	Q9BY27	OTTHUMG00000150583	ENST00000248879.3:c.98A>G	22.37:g.20307414T>C	ENSP00000248879:p.Lys33Arg		A8K1N7|B3KMC0|D3DX29|Q9BW33	Missense_Mutation	SNP	pfam_DGCR6	p.K33R	ENST00000248879.3	37	c.98	CCDS13778.1	22	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565075	0.65651	.	.	ENSG00000128185	ENST00000248879;ENST00000405465	T;T	0.33865	1.39;1.39	1.98	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.50993	1.605	0.33444	D	0.582759	P;B	0.45176	0.852;0.316	P;B	0.45712	0.491;0.097	T	0.42068	-0.9473	10	0.27082	T	0.32	-23.6994	7.9022	0.29742	0.0:0.0:0.0:1.0	.	33;33	B3KMC0;Q9BY27	.;DGC6L_HUMAN	R	33	ENSP00000248879:K33R;ENSP00000386052:K33R	ENSP00000248879:K33R	K	-	2	0	DGCR6L	18687414	1.000000	0.71417	0.986000	0.45419	0.594000	0.36715	4.806000	0.62569	1.160000	0.42584	0.260000	0.18958	AAG	DGCR6L	-	pfam_DGCR6	ENSG00000128185		0.716	DGCR6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6L	HGNC	protein_coding	OTTHUMT00000318970.3	-	0.00	49	0	T	NM_033257		20307414	-1	tier1	-	no_errors	ENST00000248879	ensembl	human	known	74_37	missense	48.21	29	27	SNP	1.000	C
DIAPH2	1730	genome.wustl.edu	37	X	96684668	96684668	+	Silent	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chrX:96684668G>T	ENST00000324765.8	+	26	3512	c.3165G>T	c.(3163-3165)gtG>gtT	p.V1055V	DIAPH2_ENST00000355827.4_Silent_p.V1055V|DIAPH2_ENST00000373061.3_Silent_p.V1055V|DIAPH2-AS1_ENST00000439759.2_RNA|DIAPH2_ENST00000373049.4_Silent_p.V1055V|DIAPH2_ENST00000373054.4_Silent_p.V1051V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1055	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGACTGGTGTGATGGATAATC	0.418																																																	0													82.0	73.0	76.0					X																	96684668		2203	4300	6503	SO:0001819	synonymous_variant	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3165G>T	X.37:g.96684668G>T			A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.V1055	ENST00000324765.8	37	c.3165	CCDS14467.1	X																																																																																			DIAPH2	-	pfam_Drf_DAD,smart_FH2_Formin	ENSG00000147202		0.418	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	-	0.00	75	0	G	NM_006729, NM_007309		96684668	+1	tier1	-	no_errors	ENST00000324765	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	T
DIS3	22894	genome.wustl.edu	37	13	73333933	73333933	+	Nonstop_Mutation	SNP	C	C	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr13:73333933C>A	ENST00000377767.4	-	21	2977	c.2877G>T	c.(2875-2877)taG>taT	p.*959Y	DIS3_ENST00000545453.1_Nonstop_Mutation_p.*797Y|DIS3_ENST00000377780.4_Nonstop_Mutation_p.*929Y	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	0					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTGAATATAGCTATTTTCCAA	0.313										Multiple Myeloma(4;0.011)																																							0													127.0	125.0	126.0					13																	73333933		2203	4300	6503	SO:0001578	stop_lost	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2877G>T	13.37:g.73333933C>A			A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Nonstop_Mutation	SNP	smart_PIN_dom	p.*959Y	ENST00000377767.4	37	c.2877	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047233	0.36085	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	.	.	.	6.06	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7031	0.34338	0.0:0.7658:0.0:0.2342	.	.	.	.	Y	959;929;797	.	.	X	-	3	2	DIS3	72231934	1.000000	0.71417	0.984000	0.44739	0.480000	0.33159	1.437000	0.34991	0.904000	0.36572	0.650000	0.86243	TAG	DIS3	-	NULL	ENSG00000083520		0.313	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	-	0.00	38	0	C	NM_014953		73333933	-1	tier1	-	no_errors	ENST00000377767	ensembl	human	known	74_37	nonstop	47.83	12	11	SNP	0.995	A
DMTN	2039	genome.wustl.edu	37	8	21925182	21925182	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:21925182C>T	ENST00000523266.1	+	4	700	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	DMTN_ENST00000358242.3_Missense_Mutation_p.R80C|DMTN_ENST00000523782.2_Missense_Mutation_p.R55C|DMTN_ENST00000517600.1_Missense_Mutation_p.R55C|DMTN_ENST00000443491.2_Missense_Mutation_p.R55C|DMTN_ENST00000519907.1_Missense_Mutation_p.R80C|DMTN_ENST00000415253.1_Missense_Mutation_p.R80C|DMTN_ENST00000381470.3_Missense_Mutation_p.R80C|DMTN_ENST00000432128.1_Missense_Mutation_p.R80C|DMTN_ENST00000265800.5_Missense_Mutation_p.R80C	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	80					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										GGAGCTGCCTCGCAGCCGCGA	0.652																																																	0													67.0	63.0	64.0					8																	21925182		2203	4300	6503	SO:0001583	missense	0			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.238C>T	8.37:g.21925182C>T	ENSP00000427866:p.Arg80Cys		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.R80C	ENST00000523266.1	37	c.238	CCDS6020.1	8	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003329	0.74932	.	.	ENSG00000158856	ENST00000522148;ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	1.01;1.49;1.01;1.01;1.01;1.01;0.85;1.49;1.49;1.49;1.01;1.49;1.01;1.01;1.01;1.01	5.41	0.144	0.14824	.	0.216229	0.31685	N	0.007221	T	0.61248	0.2332	L	0.54323	1.7	0.48087	D	0.999585	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.999;0.997	D;D;P;P;P;P	0.79784	0.993;0.993;0.72;0.828;0.72;0.799	T	0.64360	-0.6426	10	0.72032	D	0.01	.	15.195	0.73081	0.2469:0.7531:0.0:0.0	.	19;55;80;55;55;80	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	C	55;55;80;80;80;55;55;55;55;55;80;80;19;80;80;80;80;80	ENSP00000428063:R55C;ENSP00000429116:R55C;ENSP00000430600:R80C;ENSP00000370879:R80C;ENSP00000416111:R80C;ENSP00000397904:R55C;ENSP00000430618:R55C;ENSP00000428733:R55C;ENSP00000430382:R55C;ENSP00000428415:R80C;ENSP00000265800:R80C;ENSP00000429948:R80C;ENSP00000350977:R80C;ENSP00000401291:R80C;ENSP00000427866:R80C;ENSP00000429377:R80C	ENSP00000265800:R80C	R	+	1	0	EPB49	21981128	0.059000	0.20769	0.975000	0.42487	0.887000	0.51463	0.182000	0.16900	0.024000	0.15214	-0.397000	0.06425	CGC	DMTN	-	NULL	ENSG00000158856		0.652	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DMTN	HGNC	protein_coding	OTTHUMT00000375178.1	-	0.00	44	0	C	NM_001978		21925182	+1	tier1	-	no_errors	ENST00000265800	ensembl	human	known	74_37	missense	75.00	4	12	SNP	0.997	T
DNM1P47	100216544	genome.wustl.edu	37	15	102297905	102297905	+	RNA	SNP	C	C	T	rs573971922		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr15:102297905C>T	ENST00000561463.1	+	0	5951									DNM1 pseudogene 47																		CTGGAGGAGTCGGCAGAGCAG	0.592													.|||	1	0.000199681	0.0	0.0	5008	,	,		19894	0.001		0.0	False		,,,				2504	0.0																0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102297905C>T				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			DNM1P47	-	-	ENSG00000259660		0.592	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1	-	0.00	34	0	C	NG_009149		102297905	+1	tier1	-	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	67.65	11	23	SNP	0.876	T
DOCK3	1795	genome.wustl.edu	37	3	51312516	51312516	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:51312516G>T	ENST00000266037.9	+	25	2578	c.2555G>T	c.(2554-2556)cGc>cTc	p.R852L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	852					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R852H(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCAGAATCCCGCCGCATCCTG	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											183.0	183.0	183.0					3																	51312516		1901	4126	6027	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2555G>T	3.37:g.51312516G>T	ENSP00000266037:p.Arg852Leu		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R852L	ENST00000266037.9	37	c.2555	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.486338	0.96323	.	.	ENSG00000088538	ENST00000266037	T	0.15017	2.46	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47911	-0.9080	10	0.87932	D	0	.	20.1224	0.97967	0.0:0.0:1.0:0.0	.	852	Q8IZD9	DOCK3_HUMAN	L	852	ENSP00000266037:R852L	ENSP00000266037:R852L	R	+	2	0	DOCK3	51287556	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.749000	0.94314	0.650000	0.86243	CGC	DOCK3	-	superfamily_ARM-type_fold	ENSG00000088538		0.483	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0.00	73	0	G	NM_004947		51312516	+1			no_errors	ENST00000266037	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
DPPA4	55211	genome.wustl.edu	37	3	109046719	109046719	+	3'UTR	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:109046719C>T	ENST00000335658.6	-	0	1085				DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4						lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CACCAGTCTGCATGGCCCATA	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.*116G>A	3.37:g.109046719C>T			A8K4M7|Q9H9N5|Q9NVI6	RNA	SNP	-	NULL	ENST00000335658.6	37	NULL	CCDS33814.1	3																																																																																			DPPA4	-	-	ENSG00000121570		0.478	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA4	HGNC	protein_coding	OTTHUMT00000353897.1	-	0.00	43	0	C	NM_018189		109046719	-1	tier1	-	no_errors	ENST00000463966	ensembl	human	known	74_37	rna	21.21	26	7	SNP	0.000	T
DPYS	1807	genome.wustl.edu	37	8	105405213	105405213	+	Silent	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:105405213G>T	ENST00000351513.2	-	8	1374	c.1242C>A	c.(1240-1242)atC>atA	p.I414I	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	414					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTTTGCTGAGATAGTCCTAT	0.368																																																	0													66.0	71.0	69.0					8																	105405213		2203	4300	6503	SO:0001819	synonymous_variant	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1242C>A	8.37:g.105405213G>T				Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.I414	ENST00000351513.2	37	c.1242	CCDS6302.1	8																																																																																			DPYS	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000147647		0.368	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	-	0.00	67	0	G	NM_001385		105405213	-1	tier1	-	no_errors	ENST00000351513	ensembl	human	known	74_37	silent	10.00	45	5	SNP	1.000	T
DTX1	1840	genome.wustl.edu	37	12	113515631	113515631	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:113515631C>G	ENST00000257600.3	+	2	1165	c.662C>G	c.(661-663)tCg>tGg	p.S221W		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	221					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						atcctggcctcgcagcgccgc	0.776																																																	0													1.0	1.0	1.0					12																	113515631		924	1711	2635	SO:0001583	missense	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.662C>G	12.37:g.113515631C>G	ENSP00000257600:p.Ser221Trp		O60630|Q9BS04	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.S221W	ENST00000257600.3	37	c.662	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972107	0.34754	.	.	ENSG00000135144	ENST00000257600	T	0.14266	2.52	3.23	2.33	0.28932	.	0.420710	0.23716	N	0.045279	T	0.21718	0.0523	L	0.55481	1.735	0.58432	D	0.999999	D	0.69078	0.997	P	0.54312	0.748	T	0.00909	-1.1518	10	0.66056	D	0.02	-5.1563	9.4362	0.38639	0.0:0.8854:0.0:0.1146	.	221	Q86Y01	DTX1_HUMAN	W	221	ENSP00000257600:S221W	ENSP00000257600:S221W	S	+	2	0	DTX1	112000014	0.983000	0.35010	0.998000	0.56505	0.100000	0.18952	3.939000	0.56591	0.464000	0.27142	-0.497000	0.04613	TCG	DTX1	-	NULL	ENSG00000135144		0.776	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	-	0.00	9	0	C			113515631	+1	tier1	-	no_errors	ENST00000257600	ensembl	human	known	74_37	missense	50.00	4	4	SNP	1.000	G
DUOX1	53905	genome.wustl.edu	37	15	45444575	45444575	+	Silent	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr15:45444575C>T	ENST00000321429.4	+	26	3692	c.3285C>T	c.(3283-3285)ttC>ttT	p.F1095F	DUOX1_ENST00000561166.1_Silent_p.F741F|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.F1095F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1095	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCATCTCTTTCATGTTCTCCT	0.592																																																	0													215.0	158.0	177.0					15																	45444575		2198	4298	6496	SO:0001819	synonymous_variant	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3285C>T	15.37:g.45444575C>T			A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.F1095	ENST00000321429.4	37	c.3285	CCDS32221.1	15																																																																																			DUOX1	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000137857		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	-	0.00	101	0	C	NM_017434		45444575	+1	tier1	-	no_errors	ENST00000321429	ensembl	human	known	74_37	silent	45.05	50	41	SNP	1.000	T
DYNC1I2	1781	genome.wustl.edu	37	2	172584836	172584836	+	Missense_Mutation	SNP	G	G	T	rs372393134		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:172584836G>T	ENST00000397119.3	+	13	1332	c.1165G>T	c.(1165-1167)Gtt>Ttt	p.V389F	DYNC1I2_ENST00000409773.1_Missense_Mutation_p.V389F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.V363F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.V383F|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.V363F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.V363F|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.V381F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.V381F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.V383F|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.V389F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.V389F	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	389					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TTGTGTAAATGTTGTTGGAAC	0.338																																																	0													50.0	46.0	47.0					2																	172584836		1836	4099	5935	SO:0001583	missense	0			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1165G>T	2.37:g.172584836G>T	ENSP00000380308:p.Val389Phe		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.V389F	ENST00000397119.3	37	c.1165	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572112	0.86542	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	6.01	6.01	0.97437	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82688	0.5091	M	0.86028	2.79	0.80722	D	1	P;D;D;D;D	0.89917	0.801;1.0;0.997;0.997;1.0	P;D;D;D;D	0.87578	0.542;0.998;0.981;0.981;0.998	T	0.82617	-0.0369	10	0.52906	T	0.07	-20.5232	20.5211	0.99222	0.0:0.0:1.0:0.0	.	112;381;363;363;389	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	F	363;389;383;389;381;363;363;383;389;389;381	ENSP00000339430:V363F;ENSP00000433791:V389F;ENSP00000263811:V383F;ENSP00000380308:V389F;ENSP00000386522:V381F;ENSP00000423339:V363F;ENSP00000386397:V363F;ENSP00000386591:V383F;ENSP00000386415:V389F;ENSP00000386886:V389F;ENSP00000350692:V381F	ENSP00000263811:V383F	V	+	1	0	DYNC1I2	172293082	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.808000	0.99193	2.861000	0.98227	0.650000	0.86243	GTT	DYNC1I2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000077380		0.338	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2		0.00	34	0	G	NM_001378		172584836	+1			no_errors	ENST00000397119	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
E2F1	1869	genome.wustl.edu	37	20	32264556	32264556	+	Silent	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:32264556G>A	ENST00000343380.5	-	7	1435	c.1296C>T	c.(1294-1296)ctC>ctT	p.L432L	NECAB3_ENST00000375238.4_5'Flank|RP1-63M2.5_ENST00000606866.1_RNA|NECAB3_ENST00000246190.6_5'Flank	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	432	Transactivation.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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 (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CCAGGGGGGTGAGGTCCCCAA	0.632																																																	0													25.0	21.0	23.0					20																	32264556		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.1296C>T	20.37:g.32264556G>A			Q13143|Q92768	Silent	SNP	pfam_E2F_TDP	p.L432	ENST00000343380.5	37	c.1296	CCDS13224.1	20																																																																																			E2F1	-	NULL	ENSG00000101412		0.632	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F1	HGNC	protein_coding	OTTHUMT00000078731.2	-	0.00	153	0	G			32264556	-1	tier1	-	no_errors	ENST00000343380	ensembl	human	known	74_37	silent	41.61	87	62	SNP	0.995	A
EBF4	57593	genome.wustl.edu	37	20	2686231	2686231	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:2686231G>T	ENST00000609451.1	+	2	218	c.146G>T	c.(145-147)gGt>gTt	p.G49V	EBF4_ENST00000380648.4_Missense_Mutation_p.G45V			Q9BQW3	COE4_HUMAN	early B-cell factor 4	49					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTGGCGTGGGTCTGGCACGA	0.607																																																	0													89.0	80.0	83.0					20																	2686231		692	1591	2283	SO:0001583	missense	0			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.146G>T	20.37:g.2686231G>T	ENSP00000477023:p.Gly49Val		Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.G45V	ENST00000609451.1	37	c.134		20	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576705	0.65878	.	.	ENSG00000088881	ENST00000380648;ENST00000342725	T;T	0.51325	0.71;0.71	4.86	4.86	0.63082	.	0.118439	0.37955	N	0.001872	T	0.48554	0.1506	M	0.64170	1.965	0.80722	D	1	P	0.42375	0.778	B	0.42827	0.399	T	0.54801	-0.8239	10	0.72032	D	0.01	-9.6444	11.7091	0.51614	0.0:0.1789:0.8211:0.0	.	45	E9PEI2	.	V	45;49	ENSP00000370022:G45V;ENSP00000345030:G49V	ENSP00000345030:G49V	G	+	2	0	EBF4	2634231	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.165000	0.50778	2.408000	0.81797	0.491000	0.48974	GGT	EBF4	-	NULL	ENSG00000088881		0.607	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1		0.00	48	0	G	XM_938882		2686231	+1			no_errors	ENST00000380648	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T
E2F1	1869	genome.wustl.edu	37	20	32264679	32264679	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:32264679G>C	ENST00000343380.5	-	7	1312	c.1173C>G	c.(1171-1173)ttC>ttG	p.F391L	NECAB3_ENST00000375238.4_5'Flank|RP1-63M2.5_ENST00000606866.1_RNA|NECAB3_ENST00000246190.6_5'Flank	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	391	Transactivation.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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 (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GGAGGCCGGAGAAGTCCTCCC	0.682																																																	0													27.0	26.0	26.0					20																	32264679		2198	4293	6491	SO:0001583	missense	0				CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.1173C>G	20.37:g.32264679G>C	ENSP00000345571:p.Phe391Leu		Q13143|Q92768	Missense_Mutation	SNP	pfam_E2F_TDP	p.F391L	ENST00000343380.5	37	c.1173	CCDS13224.1	20	.	.	.	.	.	.	.	.	.	.	G	8.270	0.813230	0.16537	.	.	ENSG00000101412	ENST00000343380	T	0.38401	1.14	4.63	2.69	0.31865	.	0.413302	0.26016	N	0.026853	T	0.22322	0.0538	L	0.40543	1.245	0.36715	D	0.880842	P	0.36577	0.558	B	0.33521	0.165	T	0.12734	-1.0536	10	0.14252	T	0.57	-23.6877	6.3661	0.21455	0.165:0.1502:0.6848:0.0	.	391	Q01094	E2F1_HUMAN	L	391	ENSP00000345571:F391L	ENSP00000345571:F391L	F	-	3	2	E2F1	31728340	0.576000	0.26700	0.988000	0.46212	0.992000	0.81027	0.792000	0.26929	0.578000	0.29487	0.455000	0.32223	TTC	E2F1	-	NULL	ENSG00000101412		0.682	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F1	HGNC	protein_coding	OTTHUMT00000078731.2	-	0.00	52	0	G			32264679	-1	tier1	-	no_errors	ENST00000343380	ensembl	human	known	74_37	missense	47.83	36	33	SNP	0.957	C
EEF1G	1937	genome.wustl.edu	37	11	62327763	62327763	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:62327763G>C	ENST00000329251.4	-	8	1151	c.1021C>G	c.(1021-1023)Ctc>Gtc	p.L341V	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.L391V	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	341	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAGTGATGAGATTGCAGCTC	0.498																																																	0													33.0	30.0	31.0					11																	62327763		1982	4161	6143	SO:0001583	missense	0			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1021C>G	11.37:g.62327763G>C	ENSP00000331901:p.Leu341Val		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con	p.L391V	ENST00000329251.4	37	c.1171	CCDS44626.1	11	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621247	0.66787	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	T;T	0.31247	1.56;1.5	4.7	4.7	0.59300	Translation elongation factor EF1B, gamma chain, conserved (4);	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	H	0.96301	3.8	0.80722	D	1	D;D;D	0.64830	0.989;0.99;0.994	D;D;D	0.97110	0.996;0.994;1.0	T	0.72795	-0.4185	10	0.87932	D	0	.	8.7278	0.34480	0.1008:0.0:0.8992:0.0	.	391;110;341	B4DTG2;B4DUP0;P26641	.;.;EF1G_HUMAN	V	341;391;110	ENSP00000331901:L341V;ENSP00000367258:L391V	ENSP00000331901:L341V	L	-	1	0	EEF1G	62084339	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.616000	0.83018	2.465000	0.83290	0.550000	0.68814	CTC	EEF1G	-	pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con	ENSG00000254772		0.498	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1G	HGNC	protein_coding	OTTHUMT00000395047.1	-	0.00	73	0	G	NM_001404		62327763	-1	tier1	-	no_errors	ENST00000378019	ensembl	human	known	74_37	missense	15.58	65	12	SNP	1.000	C
ZNF788	388507	genome.wustl.edu	37	19	12223836	12223836	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:12223836C>A	ENST00000339302.4	+	3	2111	c.1474C>A	c.(1474-1476)Cat>Aat	p.H492N	ZNF788_ENST00000397759.3_Missense_Mutation_p.H111N|ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_3'UTR			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						CCTACGAACACATGAAAGGAC	0.428																																					Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001583	missense	0			AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.1474C>A	19.37:g.12223836C>A	ENSP00000342021:p.His492Asn		Q6ZRE4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H492N	ENST00000339302.4	37	c.1474		19	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577979	0.45902	.	.	ENSG00000188474	ENST00000339302;ENST00000397759	D;D	0.86865	-2.18;-2.18	0.681	0.681	0.17986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91700	0.7376	.	.	.	.	.	.	D	0.76494	0.999	D	0.87578	0.998	D	0.91609	0.5301	7	0.87932	D	0	.	8.8384	0.35126	0.0:1.0:0.0:0.0	.	492	Q6ZQV5	ZN788_HUMAN	N	492;111	ENSP00000342021:H492N;ENSP00000380866:H111N	ENSP00000342021:H492N	H	+	1	0	AC022415.1	12084836	0.940000	0.31905	0.063000	0.19743	0.104000	0.19210	3.326000	0.52037	0.629000	0.30376	0.313000	0.20887	CAT	ZNF788	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188474		0.428	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000188474	Uniprot_gn	protein_coding		-	0.00	99	0	C	XM_930581		12223836	+1	tier1	-	no_errors	ENST00000339302	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.986	A
EMC10	284361	genome.wustl.edu	37	19	50985908	50985908	+	3'UTR	SNP	C	C	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:50985908C>G	ENST00000334976.6	+	0	1227				EMC10_ENST00000376918.3_3'UTR|EMC10_ENST00000598585.1_Missense_Mutation_p.H347D|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											CAGGTGGTCTCACCCTCCTGT	0.622																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.*392C>G	19.37:g.50985908C>G			Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	NULL	p.H347D	ENST00000334976.6	37	c.1039	CCDS12796.1	19																																																																																			EMC10	-	NULL	ENSG00000161671		0.622	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC10	HGNC	protein_coding	OTTHUMT00000464760.2	-	0.00	54	0	C	NM_175063		50985908	+1	tier1	-	no_errors	ENST00000598585	ensembl	human	putative	74_37	missense	50.00	23	23	SNP	0.000	G
RP11-495P10.2	0	genome.wustl.edu	37	1	147851031	147851032	+	lincRNA	INS	-	-	AA			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:147851031_147851032insAA	ENST00000381475.3	-	0	876_877																											ctctgtctcagaaaaaaaaaaa	0.525																																																	0																																												0																															1.37:g.147851040_147851041dupAA				RNA	INS	-	NULL	ENST00000381475.3	37	NULL		1																																																																																			RP11-495P10.2	-	-	ENSG00000215863		0.525	RP11-495P10.2-001	KNOWN	basic	lincRNA	ENSG00000215863	Clone_based_vega_gene	lincRNA	OTTHUMT00000039538.1		0.00	10	0	0			147851032	-1			no_errors	ENST00000381475	ensembl	human	known	74_37	rna	28.57	5	2	INS	0.000:0.000	AA
MYO18B	84700	genome.wustl.edu	37	22	26290962	26290962	+	Intron	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr22:26290962G>A	ENST00000407587.2	+	28	4715				CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|MYO18B_ENST00000536101.1_Intron|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000335473.7_Intron|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB							cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ttaaaactcagagttaaagca	0.458																																																	0																																										SO:0001627	intron_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4547-161G>A	22.37:g.26290962G>A			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	RNA	SNP	-	NULL	ENST00000407587.2	37	NULL		22																																																																																			CTA-125H2.2	-	-	ENSG00000231933		0.458	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	ENSG00000231933	Clone_based_vega_gene	protein_coding	OTTHUMT00000400691.1	-	0.00	10	0	G	NM_032608		26290962	-1	tier1	-	no_errors	ENST00000599792	ensembl	human	known	74_37	rna	50.00	6	6	SNP	0.000	A
RP11-122L4.1	0	genome.wustl.edu	37	8	39418485	39418485	+	lincRNA	SNP	A	A	G	rs371686096		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:39418485A>G	ENST00000518465.1	+	0	1360				AC123767.1_ENST00000516367.1_RNA																							Gtatgtgtgtatatatatata	0.284																																																	0																																												0																															8.37:g.39418485A>G				RNA	SNP	-	NULL	ENST00000518465.1	37	NULL		8																																																																																			AC123767.1	-	-	ENSG00000252176		0.284	RP11-122L4.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000252176	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000376912.1	-	0.00	29	0	A			39418485	+1	tier1	-	no_errors	ENST00000516367	ensembl	human	novel	74_37	rna	26.32	14	5	SNP	0.000	G
C14orf93	60686	genome.wustl.edu	37	14	23467395	23467395	+	Intron	SNP	A	A	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:23467395A>C	ENST00000299088.6	-	2	1027				C14orf93_ENST00000341470.4_Intron|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397382.4_Intron|C14orf93_ENST00000406429.2_Intron|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397379.3_Intron|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93							extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		AGCTACTGAGAGAGAGGGAAG	0.552																																																	0																																										SO:0001627	intron_variant	0			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.597+240T>G	14.37:g.23467395A>C			B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	RNA	SNP	-	NULL	ENST00000299088.6	37	NULL	CCDS9583.1	14																																																																																			RP11-298I3.4	-	-	ENSG00000258457		0.552	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258457	Clone_based_vega_gene	protein_coding	OTTHUMT00000071688.5	-	0.00	9	0	A	NM_021944		23467395	+1	tier1	-	no_errors	ENST00000555294	ensembl	human	known	74_37	rna	33.33	8	4	SNP	0.198	C
AC004158.3	0	genome.wustl.edu	37	16	72460388	72460388	+	lincRNA	DEL	A	A	-			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr16:72460388delA	ENST00000564508.1	+	0	542				AC004158.2_ENST00000561611.2_lincRNA																							TAATTAACTTAAAAAAAACCC	0.433																																																	0																																												0																															16.37:g.72460388delA				RNA	DEL	-	NULL	ENST00000564508.1	37	NULL		16																																																																																			AC004158.2	-	-	ENSG00000261008		0.433	AC004158.3-001	KNOWN	basic	lincRNA	ENSG00000261008	Clone_based_vega_gene	lincRNA	OTTHUMT00000423200.1		0.00	20	0	A			72460388	-1	tier1		no_errors	ENST00000561611	ensembl	human	known	74_37	rna	15.38	11	2	DEL	0.967	-
EPAS1	2034	genome.wustl.edu	37	2	46587838	46587838	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:46587838G>A	ENST00000263734.3	+	5	1026	c.516G>A	c.(514-516)atG>atA	p.M172I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	172					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCATGAGGATGAAGTGCACGG	0.532																																																	0													84.0	76.0	79.0					2																	46587838		2203	4300	6503	SO:0001583	missense	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.516G>A	2.37:g.46587838G>A	ENSP00000263734:p.Met172Ile		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.M172I	ENST00000263734.3	37	c.516	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094900	0.76870	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.28895	1.59;1.59	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.86502	2.82	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.52697	-0.8541	10	0.87932	D	0	.	17.8897	0.88867	0.0:0.0:1.0:0.0	.	172	Q99814	EPAS1_HUMAN	I	172	ENSP00000406137:M172I;ENSP00000263734:M172I	ENSP00000263734:M172I	M	+	3	0	EPAS1	46441342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.618000	0.98365	2.468000	0.83385	0.555000	0.69702	ATG	EPAS1	-	superfamily_PAS	ENSG00000116016		0.532	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	-	0.00	46	0	G	NM_001430		46587838	+1	tier1	-	no_errors	ENST00000263734	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	A
EPPK1	83481	genome.wustl.edu	37	8	144940622	144940622	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:144940622G>A	ENST00000525985.1	-	2	6871	c.6800C>T	c.(6799-6801)gCg>gTg	p.A2267V				P58107	EPIPL_HUMAN	epiplakin 1	2267						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.A2267G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCGGTGGCCGCCTGCGCCTC	0.711																																																	1	Substitution - Missense(1)	skin(1)											36.0	35.0	35.0					8																	144940622		2144	4238	6382	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6800C>T	8.37:g.144940622G>A	ENSP00000436337:p.Ala2267Val		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.A2267V	ENST00000525985.1	37	c.6800		8	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028791	0.93518	.	.	ENSG00000227184	ENST00000525985	T	0.70399	-0.48	4.67	4.67	0.58626	.	.	.	.	.	D	0.82375	0.5023	M	0.79123	2.44	0.51012	D	0.999902	D	0.89917	1.0	D	0.97110	1.0	T	0.79533	-0.1764	9	0.19147	T	0.46	.	15.1226	0.72457	0.0:0.0:1.0:0.0	.	2267	E9PPU0	.	V	2267	ENSP00000436337:A2267V	ENSP00000436337:A2267V	A	-	2	0	EPPK1	145012610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.583000	0.98217	2.420000	0.82092	0.591000	0.81541	GCG	EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000227184		0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0.00	70	0	G	NM_031308		144940622	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	15.38	94	18	SNP	1.000	A
ESRP2	80004	genome.wustl.edu	37	16	68265264	68265264	+	Missense_Mutation	SNP	C	C	T	rs374057525		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr16:68265264C>T	ENST00000565858.1	-	12	1644	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.D510N	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	520	RRM 3.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						ATGAAGGCATCGCCCGATGGC	0.552																																																	0								C	ASN/ASP	0,4396		0,0,2198	71.0	56.0	61.0		1528	5.8	0.9	16		61	1,8597		0,1,4298	no	missense	ESRP2	NM_024939.2	23	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	510/718	68265264	1,12993	2198	4299	6497	SO:0001583	missense	0			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1558G>A	16.37:g.68265264C>T	ENSP00000454554:p.Asp520Asn		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.D520N	ENST00000565858.1	37	c.1558		16	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926070	0.92319	0.0	1.16E-4	ENSG00000103067	ENST00000473183	T	0.09073	3.02	5.79	5.79	0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	T	0.04041	-1.0982	10	0.87932	D	0	-14.5689	20.0368	0.97565	0.0:1.0:0.0:0.0	.	520;510	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	N	510	ENSP00000418748:D510N	ENSP00000418748:D510N	D	-	1	0	ESRP2	66822765	1.000000	0.71417	0.939000	0.37840	0.954000	0.61252	7.770000	0.85390	2.735000	0.93741	0.563000	0.77884	GAT	ESRP2	-	smart_RRM_dom	ENSG00000103067		0.552	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	-	0.00	49	0	C	NM_024939		68265264	-1	tier1	-	no_errors	ENST00000565858	ensembl	human	known	74_37	missense	45.16	34	28	SNP	1.000	T
FAM78A	286336	genome.wustl.edu	37	9	134151335	134151335	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:134151335G>A	ENST00000372271.3	-	1	599	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	78										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GGGATGGGCGGCATGACCACC	0.632																																																	0													61.0	55.0	57.0					9																	134151335		2203	4300	6503	SO:0001583	missense	0			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.232C>T	9.37:g.134151335G>A	ENSP00000361345:p.Pro78Ser		Q86VQ9|Q9H7P4	Missense_Mutation	SNP	NULL	p.P78S	ENST00000372271.3	37	c.232	CCDS6941.2	9	.	.	.	.	.	.	.	.	.	.	G	33	5.279345	0.95489	.	.	ENSG00000126882	ENST00000372271	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.76666	0.4019	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79112	-0.1937	9	0.72032	D	0.01	-25.3242	17.3899	0.87427	0.0:0.0:1.0:0.0	.	78	Q5JUQ0	FA78A_HUMAN	S	78	.	ENSP00000361345:P78S	P	-	1	0	FAM78A	133141156	1.000000	0.71417	0.998000	0.56505	0.717000	0.41224	9.409000	0.97331	2.422000	0.82143	0.561000	0.74099	CCG	FAM78A	-	NULL	ENSG00000126882		0.632	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1	-	0.00	67	0	G	NM_033387		134151335	-1	tier1	-	no_errors	ENST00000372271	ensembl	human	known	74_37	missense	5.63	66	4	SNP	1.000	A
FERMT3	83706	genome.wustl.edu	37	11	63978612	63978612	+	Silent	SNP	C	C	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:63978612C>G	ENST00000279227.5	+	4	578	c.483C>G	c.(481-483)ctC>ctG	p.L161L	FERMT3_ENST00000345728.5_Silent_p.L161L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	161					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGGAAGAGCTCTATGACTTGA	0.647																																																	0													14.0	15.0	15.0					11																	63978612		2143	4217	6360	SO:0001819	synonymous_variant	0			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.483C>G	11.37:g.63978612C>G			Q8IUA1|Q8N207|Q9BT48	Silent	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L161	ENST00000279227.5	37	c.483	CCDS8060.1	11																																																																																			FERMT3	-	smart_Band_41_domain	ENSG00000149781		0.647	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1		0.00	23	0	C	NM_031471		63978612	+1			no_errors	ENST00000279227	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.981	G
FRG1B	284802	genome.wustl.edu	37	20	29631557	29631557	+	Missense_Mutation	SNP	A	A	G	rs11525721		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:29631557A>G	ENST00000278882.3	+	7	733	c.353A>G	c.(352-354)aAa>aGa	p.K118R	FRG1B_ENST00000358464.4_Missense_Mutation_p.K118R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	118								p.K118R(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGTGCTGAAAAAGAAACCAAG	0.333																																																	2	Substitution - Missense(2)	endometrium(2)																																								SO:0001583	missense	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.353A>G	20.37:g.29631557A>G	ENSP00000278882:p.Lys118Arg		C4AME5	Missense_Mutation	SNP	pfam_FRG1,superfamily_Actin_cross-linking	p.K118R	ENST00000278882.3	37	c.353		20	.	.	.	.	.	.	.	.	.	.	a	0.014	-1.602257	0.00849	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	2.03	1.07	0.20283	.	0.100689	0.64402	N	0.000003	T	0.12475	0.0303	.	.	.	0.22378	N	0.999156	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	8	0.02654	T	1	.	7.0418	0.25025	0.1556:0.0:0.8444:0.0	rs11525721	118	Q9BZ01	FRG1B_HUMAN	R	118	.	ENSP00000278882:K118R	K	+	2	0	FRG1B	28245218	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	4.500000	0.60387	0.419000	0.25927	-0.343000	0.07986	AAA	FRG1B	-	pfam_FRG1	ENSG00000149531		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2		0.00	47	0	A	NR_003579		29631557	+1			no_errors	ENST00000278882	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	G
GGA3	23163	genome.wustl.edu	37	17	73240711	73240711	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr17:73240711C>T	ENST00000245541.6	-	4	505	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Missense_Mutation_p.V25I|GGA3_ENST00000537686.1_Missense_Mutation_p.V97I|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000582486.1_Missense_Mutation_p.V25I|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000579743.1_5'UTR	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	97	Binds to ARF1 (in long isoform).|VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TTTGGAGAGACGACTTTGATT	0.483																																																	0													205.0	198.0	200.0					17																	73240711		2203	4300	6503	SO:0001583	missense	0			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.289G>A	17.37:g.73240711C>T	ENSP00000245541:p.Val97Ile		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.V97I	ENST00000245541.6	37	c.289	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459577	0.63401	.	.	ENSG00000125447	ENST00000245541;ENST00000537584;ENST00000537686	T;T	0.20332	2.08;2.08	5.12	5.12	0.69794	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	L	0.42744	1.35	0.80722	D	1	P	0.51933	0.949	P	0.48524	0.58	T	0.01252	-1.1405	10	0.18276	T	0.48	-16.7345	18.7592	0.91843	0.0:1.0:0.0:0.0	.	97	Q9NZ52	GGA3_HUMAN	I	97;25;97	ENSP00000245541:V97I;ENSP00000438085:V97I	ENSP00000245541:V97I	V	-	1	0	GGA3	70752306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.622000	0.83099	2.659000	0.90383	0.655000	0.94253	GTC	GGA3	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS	ENSG00000125447		0.483	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	-	0.00	111	0	C	NM_138619		73240711	-1	tier1	-	no_errors	ENST00000245541	ensembl	human	known	74_37	missense	64.71	24	44	SNP	1.000	T
GOLGA8T	653075	genome.wustl.edu	37	15	30429105	30429105	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr15:30429105C>T	ENST00000569052.1	+	2	85	c.85C>T	c.(85-87)Cca>Tca	p.P29S	GOLGA8T_ENST00000565649.1_3'UTR					golgin A8 family, member T																		CCCTAGAGTTCCAGCAGGAGC	0.488																																																	0																																										SO:0001583	missense	0					15q13.2	2013-01-17			ENSG00000261247	ENSG00000261247			44410	other	unknown							Standard	NR_033933		Approved		uc021sha.1		OTTHUMG00000175638	ENST00000569052.1:c.85C>T	15.37:g.30429105C>T	ENSP00000455826:p.Pro29Ser			Missense_Mutation	SNP	NULL	p.P29S	ENST00000569052.1	37	c.85		15																																																																																			GOLGA8T	-	NULL	ENSG00000261247		0.488	GOLGA8T-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8T	HGNC	protein_coding	OTTHUMT00000430690.1	-	0.00	38	0	C	NR_033933		30429105	+1	tier1	-	no_errors	ENST00000569052	ensembl	human	novel	74_37	missense	20.00	36	9	SNP	0.190	T
GPATCH1	55094	genome.wustl.edu	37	19	33609992	33609992	+	Silent	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:33609992C>T	ENST00000170564.2	+	17	2804	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	830					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGAAGAGTTCGGCCCGCGGC	0.557											OREG0025409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(67;88 1713 4567 18227)												0													50.0	47.0	48.0					19																	33609992		2203	4300	6503	SO:0001819	synonymous_variant	0			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2490C>T	19.37:g.33609992C>T		841	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.F830	ENST00000170564.2	37	c.2490	CCDS12428.1	19																																																																																			GPATCH1	-	NULL	ENSG00000076650		0.557	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1	-	0.00	38	0	C	NM_018025		33609992	+1	tier1	-	no_errors	ENST00000170564	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.996	T
GTF3C3	9330	genome.wustl.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																																	1	Substitution - coding silent(1)	endometrium(1)											65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	0			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T			Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E103	ENST00000263956.3	37	c.309	CCDS2316.1	2																																																																																			GTF3C3	-	NULL	ENSG00000119041		0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1		0.00	40	0	C			197657782	-1			no_errors	ENST00000263956	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.968	T
HDAC7	51564	genome.wustl.edu	37	12	48189393	48189393	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:48189393C>T	ENST00000427332.2	-	10	1103	c.947G>A	c.(946-948)gGc>gAc	p.G316D	HDAC7_ENST00000080059.7_Missense_Mutation_p.G355D|HDAC7_ENST00000354334.3_Missense_Mutation_p.G318D|HDAC7_ENST00000552960.1_Missense_Mutation_p.G338D|HDAC7_ENST00000380610.4_Missense_Mutation_p.G372D			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	316	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GGCATGAGAGCCTGAGGGGTC	0.657																																																	0													13.0	15.0	14.0					12																	48189393		2176	4268	6444	SO:0001583	missense	0			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.947G>A	12.37:g.48189393C>T	ENSP00000404394:p.Gly316Asp		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.G372D	ENST00000427332.2	37	c.1115		12	.	.	.	.	.	.	.	.	.	.	C	3.534	-0.095071	0.07010	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.54866	0.56;0.56;0.57;0.55;0.57	4.32	-2.26	0.06867	.	1.212700	0.05762	N	0.604989	T	0.30166	0.0756	N	0.19112	0.55	0.09310	N	1	B;B;B	0.31383	0.321;0.027;0.168	B;B;B	0.27608	0.081;0.039;0.039	T	0.11842	-1.0571	10	0.12430	T	0.62	.	5.8043	0.18432	0.3512:0.4001:0.2486:0.0	.	355;338;318	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	D	355;318;338;372;316	ENSP00000080059:G355D;ENSP00000351326:G318D;ENSP00000448532:G338D;ENSP00000369984:G372D;ENSP00000404394:G316D	ENSP00000080059:G355D	G	-	2	0	HDAC7	46475660	0.079000	0.21365	0.021000	0.16686	0.991000	0.79684	0.144000	0.16135	-0.528000	0.06366	-0.310000	0.09108	GGC	HDAC7	-	pirsf_Histone_deAcase_II_euk	ENSG00000061273		0.657	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	HDAC7	HGNC	protein_coding	OTTHUMT00000328804.2	-	0.00	121	0	C			48189393	-1	tier1	-	no_errors	ENST00000380610	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.017	T
HIVEP1	3096	genome.wustl.edu	37	6	12164527	12164527	+	Silent	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:12164527C>T	ENST00000379388.2	+	9	8322	c.7990C>T	c.(7990-7992)Ctg>Ttg	p.L2664L	HIVEP1_ENST00000541134.1_Silent_p.L529L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2664					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCACAACCTCTGCTGAAGGC	0.552																																																	0													45.0	49.0	47.0					6																	12164527		2129	4245	6374	SO:0001819	synonymous_variant	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7990C>T	6.37:g.12164527C>T			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L2664	ENST00000379388.2	37	c.7990	CCDS43426.1	6																																																																																			HIVEP1	-	NULL	ENSG00000095951		0.552	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0.00	30	0	C	NM_002114		12164527	+1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	silent	29.63	19	8	SNP	0.000	T
HIST1H3G	8355	genome.wustl.edu	37	6	26271357	26271357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:26271357G>A	ENST00000305910.3	-	1	255	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	86					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GCGGAACTCTGAAAGCGCAGA	0.572																																																	0													87.0	90.0	89.0					6																	26271357		2203	4300	6503	SO:0001587	stop_gained	0			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.256C>T	6.37:g.26271357G>A	ENSP00000439660:p.Gln86*		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Nonsense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.Q86*	ENST00000305910.3	37	c.256	CCDS4602.1	6	.	.	.	.	.	.	.	.	.	.	.	15.75	2.925028	0.52759	.	.	ENSG00000256018	ENST00000305910	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9896	0.80193	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	ENSP00000439660:Q86X	Q	-	1	0	HIST1H3G	26379336	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	7.638000	0.83328	2.183000	0.69458	0.563000	0.77884	CAG	HIST1H3G	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000256018		0.572	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3G	HGNC	protein_coding	OTTHUMT00000040099.2	-	0.00	111	0	G	NM_003534		26271357	-1	tier1	-	no_errors	ENST00000305910	ensembl	human	known	74_37	nonsense	40.15	79	53	SNP	1.000	A
HNRNPLL	92906	genome.wustl.edu	37	2	38796385	38796385	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:38796385T>A	ENST00000449105.3	-	10	1645	c.1306A>T	c.(1306-1308)Aat>Tat	p.N436Y	HNRNPLL_ENST00000378915.3_Missense_Mutation_p.N402Y|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.N431Y|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.N436Y|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.N402Y			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	436					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										GTAAAGCGATTATTTTTGCTC	0.388																																																	0													118.0	111.0	113.0					2																	38796385		2203	4300	6503	SO:0001583	missense	0			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.1306A>T	2.37:g.38796385T>A	ENSP00000390625:p.Asn436Tyr		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.N436Y	ENST00000449105.3	37	c.1306		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.431403|4.431403	0.83776|0.83776	.|.	.|.	ENSG00000143889|ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328|ENST00000441689	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Nucleotide-binding, alpha-beta plait (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76962|.	0.4061|.	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.998;0.995|.	T|.	0.78663|.	-0.2116|.	9|.	0.87932|.	D|.	0|.	-8.4013|-8.4013	15.5718|15.5718	0.76345|0.76345	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	431;436;436|.	C9J9G0;D6W592;Q8WVV9|.	.;.;HNRLL_HUMAN|.	Y|L	436;431;402;402|42	.|.	ENSP00000368195:N402Y|.	N|X	-|-	1|2	0|2	HNRPLL|HNRPLL	38649889|38649889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.887000|7.887000	0.87295|0.87295	2.143000|2.143000	0.66587|0.66587	0.383000|0.383000	0.25322|0.25322	AAT|TAA	HNRNPLL	-	tigrfam_HnRNP-L_PTB	ENSG00000143889		0.388	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	HNRNPLL	HGNC	protein_coding	OTTHUMT00000219887.2	-	0.00	45	0	T	NM_138394		38796385	-1	tier1	-	no_errors	ENST00000449105	ensembl	human	known	74_37	missense	39.29	34	22	SNP	1.000	A
IRGQ	126298	genome.wustl.edu	37	19	44096738	44096738	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:44096738C>T	ENST00000602269.1	-	2	1497	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_Missense_Mutation_p.G438R			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	438	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCTGGGAGTCCGCCAGGCCGT	0.721																																																	0													26.0	31.0	29.0					19																	44096738		2203	4295	6498	SO:0001583	missense	0			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1312G>A	19.37:g.44096738C>T	ENSP00000472250:p.Gly438Arg		B2RNP3	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.G438R	ENST00000602269.1	37	c.1312	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243194	0.39697	.	.	ENSG00000167378	ENST00000422989	T	0.48201	0.82	3.96	3.96	0.45880	.	0.164767	0.39274	N	0.001414	T	0.59972	0.2233	L	0.44542	1.39	0.22926	N	0.998557	D	0.89917	1.0	D	0.91635	0.999	T	0.52253	-0.8600	10	0.72032	D	0.01	-29.6472	14.3189	0.66470	0.0:1.0:0.0:0.0	.	438	Q8WZA9	IRGQ_HUMAN	R	438	ENSP00000387535:G438R	ENSP00000387535:G438R	G	-	1	0	IRGQ	48788578	0.039000	0.19947	0.089000	0.20774	0.050000	0.14768	1.717000	0.37991	2.500000	0.84329	0.563000	0.77884	GGA	IRGQ	-	NULL	ENSG00000167378		0.721	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	-	0.00	16	0	C	NM_001007561		44096738	-1	tier1	-	no_errors	ENST00000422989	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.290	T
ITSN1	6453	genome.wustl.edu	37	21	35257404	35257404	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr21:35257404A>G	ENST00000381318.3	+	37	5024	c.4736A>G	c.(4735-4737)aAg>aGg	p.K1579R	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.K1518R|ITSN1_ENST00000381285.4_Missense_Mutation_p.K1579R|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.K1574R	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1579					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACTGAGAAAAAGAAGCGCGAG	0.522																																																	0													80.0	77.0	78.0					21																	35257404		2203	4300	6503	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4736A>G	21.37:g.35257404A>G	ENSP00000370719:p.Lys1579Arg		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.K1579R	ENST00000381318.3	37	c.4736	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009838	0.54361	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442;ENST00000415023	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.58	5.58	0.84498	Pleckstrin homology-type (1);	0.056937	0.64402	D	0.000001	T	0.60534	0.2276	L	0.60455	1.87	0.80722	D	1	B;B;B	0.26483	0.15;0.006;0.006	B;B;B	0.25987	0.065;0.003;0.003	T	0.59161	-0.7506	10	0.44086	T	0.13	.	15.7282	0.77780	1.0:0.0:0.0:0.0	.	1518;1574;1579	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	R	1579;1579;1508;1574;1518;115	ENSP00000370719:K1579R;ENSP00000370685:K1579R;ENSP00000382301:K1574R;ENSP00000387377:K1518R;ENSP00000409800:K115R	ENSP00000370685:K1579R	K	+	2	0	ITSN1	34179274	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.808000	0.69165	2.246000	0.74042	0.533000	0.62120	AAG	ITSN1	-	NULL	ENSG00000205726		0.522	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4		0.00	61	0	A	NM_003024		35257404	+1			no_errors	ENST00000381285	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	G
CEP162	22832	genome.wustl.edu	37	6	84872950	84872950	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:84872950T>G	ENST00000403245.3	-	19	2539	c.2425A>C	c.(2425-2427)Aaa>Caa	p.K809Q	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.K733Q	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTGTCTTGTTTCAGTCTTTTG	0.328																																																	0													224.0	203.0	210.0					6																	84872950		2203	4300	6503	SO:0001583	missense	0																														ENST00000403245.3:c.2425A>C	6.37:g.84872950T>G	ENSP00000385215:p.Lys809Gln			Missense_Mutation	SNP	NULL	p.K809Q	ENST00000403245.3	37	c.2425	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912781	0.72983	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.31247	1.5;1.5	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000002	T	0.48314	0.1493	M	0.80847	2.515	0.42326	D	0.992272	D	0.89917	1.0	D	0.85130	0.997	T	0.50890	-0.8774	10	0.39692	T	0.17	-18.6686	15.0022	0.71483	0.0:0.0:0.0:1.0	.	809	Q5TB80	QN1_HUMAN	Q	733;809	ENSP00000257766:K733Q;ENSP00000385215:K809Q	ENSP00000257766:K733Q	K	-	1	0	KIAA1009	84929669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.642000	0.74329	1.993000	0.58246	0.460000	0.39030	AAA	KIAA1009	-	NULL	ENSG00000135315		0.328	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	-	0.00	130	0	T			84872950	-1	tier1	-	no_errors	ENST00000403245	ensembl	human	known	74_37	missense	9.57	84	9	SNP	1.000	G
KIAA2018	205717	genome.wustl.edu	37	3	113379264	113379264	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:113379264C>A	ENST00000478658.1	-	5	1282	c.1265G>T	c.(1264-1266)cGa>cTa	p.R422L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.R422L			Q68DE3	K2018_HUMAN	KIAA2018	422						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGAAGAGATTCGTGTAAGGCT	0.428																																																	0													77.0	75.0	76.0					3																	113379264		1936	4150	6086	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1265G>T	3.37:g.113379264C>A	ENSP00000420721:p.Arg422Leu		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R422L	ENST00000478658.1	37	c.1265	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679606	0.68042	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.34472	1.36;1.36	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	T	0.52075	0.1712	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.50491	-0.8822	10	0.52906	T	0.07	-12.2214	18.8197	0.92090	0.0:1.0:0.0:0.0	.	422	Q68DE3	K2018_HUMAN	L	422	ENSP00000320794:R422L;ENSP00000420721:R422L	ENSP00000320794:R422L	R	-	2	0	KIAA2018	114861954	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.439000	0.59968	2.671000	0.90904	0.650000	0.86243	CGA	KIAA2018	-	NULL	ENSG00000176542		0.428	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	-	0.00	65	0	C	NM_001009899		113379264	-1	tier1	-	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	59.52	17	25	SNP	1.000	A
KLK15	55554	genome.wustl.edu	37	19	51330300	51330300	+	Silent	SNP	G	G	A	rs369380000		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:51330300G>A	ENST00000598239.1	-	3	345	c.315C>T	c.(313-315)aaC>aaT	p.N105N	KLK15_ENST00000416184.1_Silent_p.N105N|KLK15_ENST00000596931.1_Silent_p.N104N|KLK15_ENST00000301421.2_Silent_p.N105N|KLK15_ENST00000326856.4_Silent_p.N104N	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687																																					Pancreas(140;10 2513 7143 9246)												0													65.0	58.0	61.0					19																	51330300		2202	4299	6501	SO:0001819	synonymous_variant	0			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.315C>T	19.37:g.51330300G>A			A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.N105	ENST00000598239.1	37	c.315	CCDS12805.1	19																																																																																			KLK15	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000174562		0.687	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK15	HGNC	protein_coding	OTTHUMT00000465160.1	-	0.00	55	0	G	NM_017509		51330300	-1	tier1	-	no_errors	ENST00000598239	ensembl	human	known	74_37	silent	31.82	30	14	SNP	0.449	A
KMT2D	8085	genome.wustl.edu	37	12	49427679	49427679	+	Silent	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:49427679C>T	ENST00000301067.7	-	39	10808	c.10809G>A	c.(10807-10809)caG>caA	p.Q3603Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3603	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3603Q(1)|p.Q3333Q(1)									gctgctgctgctgttgttgct	0.582																																																	2	Substitution - coding silent(2)	endometrium(2)											10.0	10.0	10.0					12																	49427679		2174	4260	6434	SO:0001819	synonymous_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10809G>A	12.37:g.49427679C>T			O14687	Silent	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_PHD-finger,pfscan_Znf_RING	p.Q3603	ENST00000301067.7	37	c.10809	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0.00	51	0	C			49427679	-1			no_errors	ENST00000301067	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	T
KRTAP20-1	337975	genome.wustl.edu	37	21	31988818	31988818	+	Silent	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr21:31988818G>T	ENST00000334664.2	+	1	69	c.45G>T	c.(43-45)ggG>ggT	p.G15G	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	15						intermediate filament (GO:0005882)				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						GGTATGGTGGGCTTGGCTGTG	0.458																																																	0													233.0	199.0	211.0					21																	31988818		2203	4300	6503	SO:0001819	synonymous_variant	0			AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"""Keratin associated proteins"""	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.45G>T	21.37:g.31988818G>T				Silent	SNP	pfam_KRTAP_type6/8/16/19/20	p.G15	ENST00000334664.2	37	c.45	CCDS13603.1	21																																																																																			KRTAP20-1	-	pfam_KRTAP_type6/8/16/19/20	ENSG00000244624		0.458	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP20-1	HGNC	protein_coding	OTTHUMT00000128253.3	-	0.00	191	0	G			31988818	+1	tier1	-	no_errors	ENST00000334664	ensembl	human	known	74_37	silent	68.31	45	97	SNP	0.880	T
LOC101927209	101927209	genome.wustl.edu	37	1	142690883	142690883	+	lincRNA	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:142690883G>A	ENST00000610091.1	-	0	3560																											AGGGTGCCCCGACTCACTTTC	0.552																																																	0																																												0																															1.37:g.142690883G>A				RNA	SNP	-	NULL	ENST00000610091.1	37	NULL		1																																																																																			RP11-417J8.3	-	-	ENSG00000230880		0.552	RP11-417J8.6-001	KNOWN	basic	lincRNA	LOC101927209	Clone_based_vega_gene	lincRNA	OTTHUMT00000037265.2	-	0.00	11	0	G			142690883	+1	tier1	-	no_errors	ENST00000446205	ensembl	human	known	74_37	rna	90.00	1	9	SNP	0.015	A
LGR6	59352	genome.wustl.edu	37	1	202245493	202245493	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:202245493C>T	ENST00000367278.3	+	5	577	c.488C>T	c.(487-489)tCc>tTc	p.S163F	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.S111F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	163					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGCTGTCCTCCCTCCGCCAC	0.632																																																	0													75.0	66.0	69.0					1																	202245493		2203	4300	6503	SO:0001583	missense	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.488C>T	1.37:g.202245493C>T	ENSP00000356247:p.Ser163Phe		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.S163F	ENST00000367278.3	37	c.488	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519624	0.64634	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542	T;T;T	0.60171	0.21;0.21;1.63	5.07	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.76575	0.952;0.988	T	0.79293	-0.1863	10	0.56958	D	0.05	.	15.5856	0.76479	0.0:0.8617:0.1383:0.0	.	111;163	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	F	163;111;89;89	ENSP00000356247:S163F;ENSP00000255432:S111F;ENSP00000402284:S89F	ENSP00000255432:S111F	S	+	2	0	LGR6	200512116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.710000	0.61873	1.333000	0.45449	0.637000	0.83480	TCC	LGR6	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000133067		0.632	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	-	0.00	32	0	C	NM_021636		202245493	+1	tier1	-	no_errors	ENST00000367278	ensembl	human	known	74_37	missense	28.57	45	18	SNP	1.000	T
ZNF529	57711	genome.wustl.edu	37	19	37068396	37068397	+	5'Flank	INS	-	-	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:37068396_37068397insT	ENST00000586458.1	-	0	2674				AC092295.7_ENST00000592880.2_RNA|AC092295.7_ENST00000448373.2_RNA|AC092295.7_ENST00000494214.2_RNA|AC092295.7_ENST00000475219.2_RNA	NR_027239.1		Q6P280	ZN529_HUMAN	zinc finger protein 529						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)	1	Esophageal squamous(110;0.198)					ATTGTACTCTCttttttttttt	0.465																																																	0																																										SO:0001631	upstream_gene_variant	0			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714		19.37:g.37068407_37068407dupT	Exception_encountered		K7EKE1|Q9H731|Q9HCF7	RNA	INS	-	NULL	ENST00000586458.1	37	NULL		19																																																																																			AC092295.7	-	-	ENSG00000233527		0.465	ZNF529-008	KNOWN	basic	processed_transcript	LOC101927599	Clone_based_vega_gene	protein_coding	OTTHUMT00000452734.1		0.00	10	0	-	NM_020951		37068397	+1	tier1		no_errors	ENST00000448373	ensembl	human	known	74_37	rna	21.43	11	3	INS	0.110:0.124	T
ZNF529	57711	genome.wustl.edu	37	19	37068397	37068397	+	5'Flank	DEL	T	T	-			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:37068397delT	ENST00000586458.1	-	0	2674				AC092295.7_ENST00000592880.2_RNA|AC092295.7_ENST00000448373.2_RNA|AC092295.7_ENST00000494214.2_RNA|AC092295.7_ENST00000475219.2_RNA	NR_027239.1		Q6P280	ZN529_HUMAN	zinc finger protein 529						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)	1	Esophageal squamous(110;0.198)					TTGTACTCTCttttttttttt	0.468																																																	0																																										SO:0001631	upstream_gene_variant	0			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714		19.37:g.37068397delT	Exception_encountered		K7EKE1|Q9H731|Q9HCF7	RNA	DEL	-	NULL	ENST00000586458.1	37	NULL		19																																																																																			AC092295.7	-	-	ENSG00000233527		0.468	ZNF529-008	KNOWN	basic	processed_transcript	LOC101927599	Clone_based_vega_gene	protein_coding	OTTHUMT00000452734.1		0.00	11	0	T	NM_020951		37068397	+1	tier1		no_errors	ENST00000448373	ensembl	human	known	74_37	rna	26.67	11	4	DEL	0.124	-
LOC728715	728715	genome.wustl.edu	37	12	9727444	9727444	+	RNA	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:9727444G>T	ENST00000520314.1	+	0	6443																											TCATGATAGGGTTTTGGTCGA	0.373																																																	0																																												0																															12.37:g.9727444G>T				RNA	SNP	-	NULL	ENST00000520314.1	37	NULL		12																																																																																			RP11-726G1.1	-	-	ENSG00000214776		0.373	RP11-726G1.1-002	KNOWN	basic	processed_transcript	LOC728715	Clone_based_vega_gene	pseudogene	OTTHUMT00000381543.1		0.00	106	0	G			9727444	+1			no_errors	ENST00000520314	ensembl	human	known	74_37	rna	14.29	18	3	SNP	0.038	T
PLPPR3	79948	genome.wustl.edu	37	19	815759	815759	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:815759G>T	ENST00000520876.3	-	3	246	c.168C>A	c.(166-168)gaC>gaA	p.D56E	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.D56E	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		56						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										AGAGAGTGCGGTCATAGCACT	0.617																																																	0													77.0	54.0	61.0					19																	815759		2201	4299	6500	SO:0001583	missense	0																														ENST00000520876.3:c.168C>A	19.37:g.815759G>T	ENSP00000430297:p.Asp56Glu		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.D56E	ENST00000520876.3	37	c.168	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378677	0.61735	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876;ENST00000521445	T;T	0.46819	0.86;0.86	3.96	3.96	0.45880	.	0.000000	0.85682	U	0.000000	T	0.63010	0.2475	M	0.73372	2.23	0.41372	D	0.987494	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	T	0.65944	-0.6045	10	0.72032	D	0.01	-15.3016	7.5951	0.28044	0.1206:0.0:0.8794:0.0	.	56;56	Q6T4P5;Q6T4P5-3	LPPR3_HUMAN;.	E	56	ENSP00000352962:D56E;ENSP00000430297:D56E	ENSP00000300947:D56E	D	-	3	2	AC006273.1	766759	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	4.520000	0.60524	1.765000	0.52091	0.313000	0.20887	GAC	LPPR3	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000129951		0.617	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	Uniprot_gn	protein_coding	OTTHUMT00000379096.3		0.00	74	0	G			815759	-1			no_errors	ENST00000359894	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
LRFN5	145581	genome.wustl.edu	37	14	42356585	42356585	+	Missense_Mutation	SNP	C	C	T	rs147658218		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:42356585C>T	ENST00000298119.4	+	3	1946	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	LRFN5_ENST00000554120.1_Missense_Mutation_p.R253C|LRFN5_ENST00000554171.1_Missense_Mutation_p.R253C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	253	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGGTTGAGGCGTCTGTCCAG	0.443										HNSCC(30;0.082)																																							0								C	CYS/ARG	0,4406		0,0,2203	171.0	170.0	170.0		757	5.7	1.0	14	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRFN5	NM_152447.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	253/720	42356585	1,13005	2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.757C>T	14.37:g.42356585C>T	ENSP00000298119:p.Arg253Cys		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R253C	ENST00000298119.4	37	c.757	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140543	0.56936	0.0	1.16E-4	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.54279	0.58;0.58;0.58	5.69	5.69	0.88448	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.56097	D	0.000028	T	0.81375	0.4809	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86585	0.1856	10	0.87932	D	0	.	17.3157	0.87224	0.0:1.0:0.0:0.0	.	253;253	G3V364;Q96NI6	.;LRFN5_HUMAN	C	253	ENSP00000298119:R253C;ENSP00000451897:R253C;ENSP00000451067:R253C	ENSP00000298119:R253C	R	+	1	0	LRFN5	41426335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.114000	0.50383	2.676000	0.91093	0.557000	0.71058	CGT	LRFN5	-	NULL	ENSG00000165379		0.443	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1		0.00	86	0	C	NM_152447		42356585	+1			no_errors	ENST00000298119	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
LRTOMT	220074	genome.wustl.edu	37	11	71806129	71806129	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:71806129G>C	ENST00000289488.2	+	5	802	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	LRTOMT_ENST00000419228.1_Missense_Mutation_p.K7N|LRTOMT_ENST00000539271.1_Missense_Mutation_p.K7N|LRTOMT_ENST00000435085.1_Missense_Mutation_p.K7N|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000539587.1_Missense_Mutation_p.K7N|LRTOMT_ENST00000536917.1_Missense_Mutation_p.E142Q|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000447974.1_Missense_Mutation_p.E142Q|LRTOMT_ENST00000440313.2_Missense_Mutation_p.K7N|LRTOMT_ENST00000439209.1_Missense_Mutation_p.E142Q|LRTOMT_ENST00000307198.7_Missense_Mutation_p.K7N|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000541614.1_Missense_Mutation_p.E142Q|LRTOMT_ENST00000538478.1_Missense_Mutation_p.E142Q|LRTOMT_ENST00000423494.2_Missense_Mutation_p.E124Q|LRTOMT_ENST00000324866.7_Missense_Mutation_p.E142Q	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	142	LRRCT.					cytoplasm (GO:0005737)				large_intestine(2)|lung(1)|ovary(1)	4						CATGGAGGAAGAGAAAGGGTA	0.557																																																	0													53.0	51.0	52.0					11																	71806129		2200	4293	6493	SO:0001583	missense	0				CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"""leucine rich repeat containing 51"", ""deafness, autosomal recessive 63"""	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.424G>C	11.37:g.71806129G>C	ENSP00000289488:p.Glu142Gln		B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Missense_Mutation	SNP	pfam_O-MeTrfase_3	p.K7N	ENST00000289488.2	37	c.21	CCDS8208.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.621|9.621	1.133839|1.133839	0.21123|0.21123	.|.	.|.	ENSG00000184154|ENSG00000184154	ENST00000289488;ENST00000447974;ENST00000423494;ENST00000538478;ENST00000324866;ENST00000439209;ENST00000541614;ENST00000536917|ENST00000419228;ENST00000435085;ENST00000307198;ENST00000539271;ENST00000539587;ENST00000440313	T;T;T;T|T;T;T;T	0.54479|0.77489	0.57;0.57;0.57;1.44|-1.1;-0.71;-0.71;0.51	5.46|5.46	4.49|4.49	0.54785|0.54785	.|.	0.201515|.	0.44483|.	D|.	0.000452|.	T|T	0.67230|0.67230	0.2871|0.2871	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B;P;B|B;B	0.44006|0.25609	0.13;0.824;0.34|0.023;0.13	B;B;B|B;B	0.37833|0.31290	0.039;0.259;0.07|0.021;0.127	T|T	0.64905|0.64905	-0.6297|-0.6297	10|9	0.34782|0.40728	T|T	0.22|0.16	-27.4457|-27.4457	12.954|12.954	0.58416|0.58416	0.0:0.163:0.837:0.0|0.0:0.163:0.837:0.0	.|.	124;142;142|7;7	Q96E66-6;Q96E66-2;Q96E66|Q8WZ04;Q8WZ04-2	.;.;LRC51_HUMAN|TOMT_HUMAN;.	Q|N	142;142;124;142;142;142;142;142|7	ENSP00000289488:E142Q;ENSP00000441249:E124Q;ENSP00000444583:E142Q;ENSP00000395139:E142Q|ENSP00000392233:K7N;ENSP00000409789:K7N;ENSP00000305742:K7N;ENSP00000390485:K7N	ENSP00000289488:E142Q|ENSP00000305742:K7N	E|K	+|+	1|3	0|2	LRTOMT|LRTOMT	71483777|71483777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.342000|2.342000	0.43992|0.43992	2.575000|2.575000	0.86900|0.86900	0.609000|0.609000	0.83330|0.83330	GAG|AAG	LRTOMT	-	NULL	ENSG00000184154		0.557	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	LRTOMT	HGNC	protein_coding	OTTHUMT00000337504.1	-	0.00	60	0	G	NM_145309		71806129	+1	tier1	-	no_errors	ENST00000307198	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	C
LTBP4	8425	genome.wustl.edu	37	19	41111350	41111350	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:41111350A>G	ENST00000308370.7	+	6	683	c.683A>G	c.(682-684)cAg>cGg	p.Q228R	LTBP4_ENST00000204005.9_Missense_Mutation_p.Q191R|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.Q161R|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	228					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGCACCCGCAGGAGGCGTCG	0.706																																																	0													25.0	28.0	27.0					19																	41111350		1981	4108	6089	SO:0001583	missense	0			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.683A>G	19.37:g.41111350A>G	ENSP00000311905:p.Gln228Arg		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.Q228R	ENST00000308370.7	37	c.683		19	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963489	0.74016	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	T;T;T	0.80214	-1.33;-1.35;-1.3	3.87	3.87	0.44632	.	0.000000	0.34507	U	0.003908	T	0.67277	0.2876	L	0.36672	1.1	0.80722	D	1	P;P;P	0.49185	0.92;0.92;0.92	B;B;B	0.37780	0.258;0.187;0.187	T	0.69687	-0.5078	10	0.62326	D	0.03	.	7.267	0.26235	0.7739:0.2261:0.0:0.0	.	161;228;191	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	R	191;228;161	ENSP00000204005:Q191R;ENSP00000311905:Q228R;ENSP00000380031:Q161R	ENSP00000204005:Q191R	Q	+	2	0	LTBP4	45803190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.763000	0.47605	1.612000	0.50221	0.402000	0.26972	CAG	LTBP4	-	NULL	ENSG00000090006		0.706	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		-	0.00	151	0	A	NM_003573		41111350	+1	tier1	-	no_errors	ENST00000308370	ensembl	human	known	74_37	missense	36.79	67	39	SNP	1.000	G
MAML3	55534	genome.wustl.edu	37	4	140811078	140811078	+	Silent	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr4:140811078C>T	ENST00000509479.2	-	2	2368	c.1512G>A	c.(1510-1512)caG>caA	p.Q504Q	MAML3_ENST00000398940.1_Intron|MAML3_ENST00000327122.5_Silent_p.Q348Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.527																																																	0													27.0	35.0	32.0					4																	140811078		2170	4289	6459	SO:0001819	synonymous_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1512G>A	4.37:g.140811078C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q504	ENST00000509479.2	37	c.1512	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.527	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2		0.00	48	0	C			140811078	-1			no_errors	ENST00000509479	ensembl	human	known	74_37	silent	5.71	33	2	SNP	1.000	T
MGAM	8972	genome.wustl.edu	37	7	141708393	141708393	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:141708393C>T	ENST00000549489.2	+	3	310	c.215C>T	c.(214-216)aCa>aTa	p.T72I	MGAM_ENST00000475668.2_Missense_Mutation_p.T72I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	72	Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATGCTAGGACAACGGGTCCC	0.512																																																	0													87.0	83.0	84.0					7																	141708393		1873	4109	5982	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.215C>T	7.37:g.141708393C>T	ENSP00000447378:p.Thr72Ile		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.T72I	ENST00000549489.2	37	c.215	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	5.078	0.200005	0.09652	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.90004	-0.83;-2.6;0.56	1.22	1.22	0.21188	.	3.671100	0.00855	N	0.001868	T	0.79936	0.4532	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67094	-0.5757	10	0.30854	T	0.27	.	5.8183	0.18514	0.0:1.0:0.0:0.0	.	72	O43451	MGA_HUMAN	I	72	ENSP00000419372:T72I;ENSP00000447378:T72I;ENSP00000417103:T72I	ENSP00000373973:T72I	T	+	2	0	MGAM	141354862	0.001000	0.12720	0.007000	0.13788	0.010000	0.07245	0.148000	0.16224	0.971000	0.38288	0.655000	0.94253	ACA	MGAM	-	NULL	ENSG00000257335		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0.00	129	0	C			141708393	+1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	38.06	96	59	SNP	0.008	T
MORC3	23515	genome.wustl.edu	37	21	37709264	37709264	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr21:37709264G>T	ENST00000400485.1	+	3	281	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	69					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CACCGACAATGGGAATGGTAT	0.343																																																	0													117.0	109.0	112.0					21																	37709264		1877	4120	5997	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.205G>T	21.37:g.37709264G>T	ENSP00000383333:p.Gly69Trp		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.G69W	ENST00000400485.1	37	c.205	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	32	5.117150	0.94385	.	.	ENSG00000159256	ENST00000400485	D	0.98849	-5.18	5.84	5.84	0.93424	ATPase-like, ATP-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99557	0.9841	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97960	1.0337	10	0.87932	D	0	-14.8831	20.1535	0.98095	0.0:0.0:1.0:0.0	.	69	Q14149	MORC3_HUMAN	W	69	ENSP00000383333:G69W	ENSP00000383333:G69W	G	+	1	0	MORC3	36631134	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.212000	0.95126	2.764000	0.94973	0.650000	0.86243	GGG	MORC3	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd	ENSG00000159256		0.343	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	-	0.00	133	0	G	NM_015358		37709264	+1	tier1	-	no_errors	ENST00000400485	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
MTG2	26164	genome.wustl.edu	37	20	60775767	60775767	+	Silent	SNP	C	C	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:60775767C>A	ENST00000370823.3	+	7	873	c.855C>A	c.(853-855)ggC>ggA	p.G285G	MTG2_ENST00000536470.1_Silent_p.G57G|MTG2_ENST00000436421.2_Silent_p.G127G	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	285	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				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)|magnesium ion binding (GO:0000287)										TCATACGAGGCGCCCACCAGA	0.632																																																	0													68.0	74.0	72.0					20																	60775767		2203	4299	6502	SO:0001819	synonymous_variant	0			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.855C>A	20.37:g.60775767C>A			A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom	p.G285	ENST00000370823.3	37	c.855	CCDS13492.1	20																																																																																			MTG2	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom	ENSG00000101181		0.632	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	MTG2	HGNC	protein_coding	OTTHUMT00000079989.1	-	0.00	43	0	C	NM_015666		60775767	+1	tier1	-	no_errors	ENST00000370823	ensembl	human	known	74_37	silent	47.92	25	23	SNP	0.161	A
MUC16	94025	genome.wustl.edu	37	19	9064876	9064876	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:9064876G>T	ENST00000397910.4	-	3	22773	c.22570C>A	c.(22570-22572)Cct>Act	p.P7524T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7526	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATAAGGCAGGAGTTAATGTA	0.493																																																	0													135.0	129.0	131.0					19																	9064876		1987	4164	6151	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22570C>A	19.37:g.9064876G>T	ENSP00000381008:p.Pro7524Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P7524T	ENST00000397910.4	37	c.22570	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	N	2.533	-0.308037	0.05458	.	.	ENSG00000181143	ENST00000397910	T	0.30981	1.51	2.91	-5.83	0.02325	.	.	.	.	.	T	0.13072	0.0317	N	0.17082	0.46	.	.	.	B	0.23937	0.094	B	0.18871	0.023	T	0.25502	-1.0130	8	0.87932	D	0	.	0.5551	0.00669	0.1993:0.282:0.2324:0.2862	.	7524	B5ME49	.	T	7524	ENSP00000381008:P7524T	ENSP00000381008:P7524T	P	-	1	0	MUC16	8925876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.804000	0.00362	-1.244000	0.02516	-2.571000	0.00171	CCT	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	154	0	G	NM_024690		9064876	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	7.98	149	13	SNP	0.000	T
MYEOV	26579	genome.wustl.edu	37	11	69063218	69063218	+	Missense_Mutation	SNP	G	G	T	rs375123114		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:69063218G>T	ENST00000308946.3	+	3	751	c.301G>T	c.(301-303)Gct>Tct	p.A101S	MYEOV_ENST00000535407.1_Missense_Mutation_p.A43S|MYEOV_ENST00000441339.2_Missense_Mutation_p.A101S	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	101										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GTGGTTTGCTGCTGGAGCTGG	0.652																																																	0													85.0	85.0	85.0					11																	69063218		2200	4294	6494	SO:0001583	missense	0			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.301G>T	11.37:g.69063218G>T	ENSP00000308330:p.Ala101Ser		Q9UGN6|Q9UGN7	Missense_Mutation	SNP	NULL	p.A101S	ENST00000308946.3	37	c.301	CCDS8190.1	11	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067807	0.36470	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.23552	1.9;1.9;1.9	1.65	-1.68	0.08212	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	P	0.44659	0.84	P	0.45406	0.479	T	0.13098	-1.0522	9	0.87932	D	0	.	2.8424	0.05533	0.2677:0.2672:0.4651:0.0	.	101	Q96EZ4	MYEOV_HUMAN	S	101;101;43	ENSP00000412482:A101S;ENSP00000308330:A101S;ENSP00000438100:A43S	ENSP00000308330:A101S	A	+	1	0	MYEOV	68819794	0.000000	0.05858	0.001000	0.08648	0.457000	0.32468	-0.416000	0.07097	-0.439000	0.07222	0.491000	0.48974	GCT	MYEOV	-	NULL	ENSG00000172927		0.652	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	HGNC	protein_coding	OTTHUMT00000396548.1		0.00	68	0	G			69063218	+1			no_errors	ENST00000308946	ensembl	human	known	74_37	missense	7.84	45	4	SNP	0.001	T
MYO6	4646	genome.wustl.edu	37	6	76591508	76591508	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:76591508C>G	ENST00000369977.3	+	23	2528	c.2389C>G	c.(2389-2391)Cag>Gag	p.Q797E	MYO6_ENST00000369985.4_Missense_Mutation_p.Q797E|MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369981.3_Missense_Mutation_p.Q797E|MYO6_ENST00000369975.1_Missense_Mutation_p.Q797E	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	797	Required for binding calmodulin. {ECO:0000250}.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAAGAAAGTTCAGTGGTGCTC	0.423																																																	0													155.0	148.0	150.0					6																	76591508		2203	4300	6503	SO:0001583	missense	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2389C>G	6.37:g.76591508C>G	ENSP00000358994:p.Gln797Glu		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.Q797E	ENST00000369977.3	37	c.2389	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270669	0.80469	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.53	4.65	0.58169	.	0.054833	0.85682	N	0.000000	T	0.81370	0.4808	M	0.86651	2.83	0.80722	D	1	D;P	0.63046	0.992;0.933	P;D	0.63381	0.751;0.914	D	0.85201	0.1015	10	0.59425	D	0.04	.	16.2059	0.82131	0.0:0.8667:0.1332:0.0	.	797;797	Q9UM54-2;Q9UM54-1	.;.	E	797	ENSP00000358998:Q797E;ENSP00000359002:Q797E;ENSP00000358994:Q797E;ENSP00000358992:Q797E	ENSP00000358992:Q797E	Q	+	1	0	MYO6	76648228	1.000000	0.71417	0.975000	0.42487	0.791000	0.44710	5.753000	0.68736	1.294000	0.44707	0.655000	0.94253	CAG	MYO6	-	superfamily_P-loop_NTPase	ENSG00000196586		0.423	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	-	0.00	118	0	C	NM_004999		76591508	+1	tier1	-	no_errors	ENST00000369981	ensembl	human	known	74_37	missense	44.30	44	35	SNP	1.000	G
MYO9B	4650	genome.wustl.edu	37	19	17264847	17264847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:17264847C>T	ENST00000594824.1	+	5	1216	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.Q357*|MYO9B_ENST00000595618.1_Nonsense_Mutation_p.Q357*|CTD-3032J10.2_ENST00000599360.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	357	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCAGCTCAAGCAGCCTGAAGA	0.468																																																	0													114.0	115.0	114.0					19																	17264847		1944	4135	6079	SO:0001587	stop_gained	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1069C>T	19.37:g.17264847C>T	ENSP00000471367:p.Gln357*		O75314|Q9NUJ2|Q9UHN0	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.Q357*	ENST00000594824.1	37	c.1069		19	.	.	.	.	.	.	.	.	.	.	C	38	7.091889	0.98059	.	.	ENSG00000099331	ENST00000397274	.	.	.	5.15	5.15	0.70609	.	0.000000	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	15.7832	0.78281	0.0:1.0:0.0:0.0	.	.	.	.	X	357	.	ENSP00000380444:Q357X	Q	+	1	0	MYO9B	17125847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.819000	0.55686	2.410000	0.81850	0.561000	0.74099	CAG	MYO9B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000099331		0.468	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	-	0.00	63	0	C			17264847	+1	tier1	-	no_errors	ENST00000594824	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	1.000	T
NBPF12	149013	genome.wustl.edu	37	1	146398500	146398500	+	Silent	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:146398500C>T	ENST00000442909.2	+	7	1322	c.486C>T	c.(484-486)ctC>ctT	p.L162L	NBPF12_ENST00000446760.2_Silent_p.L162L|NBPF12_ENST00000309471.8_Silent_p.L87L			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						TCCAAAAGCTCAGCCCAGGTA	0.567																																																	0																																										SO:0001819	synonymous_variant	0			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.486C>T	1.37:g.146398500C>T			O95877	Silent	SNP	pfam_NBPF_dom	p.L162	ENST00000442909.2	37	c.486		1																																																																																			NBPF12	-	NULL	ENSG00000186275		0.567	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	NBPF12	HGNC	protein_coding	OTTHUMT00000102086.3	-	0.00	338	0	C	XM_003119146		146398500	+1	tier1	-	no_errors	ENST00000446760	ensembl	human	known	74_37	silent	39.67	221	146	SNP	0.041	T
NFE2L2	4780	genome.wustl.edu	37	2	178098953	178098953	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:178098953C>G	ENST00000397062.3	-	2	646	c.92G>C	c.(91-93)gGa>gCa	p.G31A	NFE2L2_ENST00000423513.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G15A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G15A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	31					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G31A(5)		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)			TCGACTTACTCCAAGATCTAT	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	5	Substitution - Missense(5)	lung(3)|oesophagus(1)|skin(1)											70.0	63.0	65.0					2																	178098953		1841	4101	5942	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.92G>C	2.37:g.178098953C>G	ENSP00000380252:p.Gly31Ala		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.G31A	ENST00000397062.3	37	c.92	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199409	0.79015	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	15;15;15;31	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	A	15;31;15;15;15;15;15	ENSP00000380253:G15A;ENSP00000380252:G31A;ENSP00000411575:G15A;ENSP00000391590:G15A;ENSP00000400073:G15A;ENSP00000412191:G15A;ENSP00000410015:G15A	ENSP00000380252:G31A	G	-	2	0	NFE2L2	177807199	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.737000	0.93849	0.563000	0.77884	GGA	NFE2L2	-	NULL	ENSG00000116044		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0.00	56	0	C	NM_006164		178098953	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	47.83	24	22	SNP	1.000	G
NOP9	161424	genome.wustl.edu	37	14	24771499	24771499	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:24771499G>A	ENST00000267425.3	+	5	1105	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	NOP9_ENST00000396802.3_Missense_Mutation_p.V338M|DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	338							poly(A) RNA binding (GO:0044822)										GGTCCTGCTGGTGTTGGAGCC	0.567																																																	0													165.0	167.0	166.0					14																	24771499		2203	4300	6503	SO:0001583	missense	0				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1012G>A	14.37:g.24771499G>A	ENSP00000267425:p.Val338Met		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.V338M	ENST00000267425.3	37	c.1012	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210853	0.79240	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.15603	2.41;2.43	5.06	5.06	0.68205	Armadillo-like helical (1);Armadillo-type fold (1);	0.070917	0.56097	D	0.000021	T	0.38612	0.1047	L	0.60455	1.87	0.51233	D	0.999918	D	0.89917	1.0	D	0.85130	0.997	T	0.02109	-1.1212	10	0.33940	T	0.23	-11.9703	17.3482	0.87315	0.0:0.0:1.0:0.0	.	338	Q86U38	CN021_HUMAN	M	338	ENSP00000267425:V338M;ENSP00000380020:V338M	ENSP00000267425:V338M	V	+	1	0	C14orf21	23841339	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	4.269000	0.58890	2.626000	0.88956	0.557000	0.71058	GTG	NOP9	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	ENSG00000196943		0.567	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	-	0.00	87	0	G			24771499	+1	tier1	-	no_errors	ENST00000267425	ensembl	human	known	74_37	missense	48.00	39	36	SNP	1.000	A
NOVA2	4858	genome.wustl.edu	37	19	46443970	46443970	+	Silent	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:46443970G>C	ENST00000263257.5	-	4	824	c.630C>G	c.(628-630)ctC>ctG	p.L210L		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	210					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		AGCTGATGTTGAGGCAGCTGC	0.687																																																	0													60.0	32.0	42.0					19																	46443970		2168	4243	6411	SO:0001819	synonymous_variant	0			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.630C>G	19.37:g.46443970G>C			O43267|Q9UEA1	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.L210	ENST00000263257.5	37	c.630	CCDS12679.1	19																																																																																			NOVA2	-	NULL	ENSG00000104967		0.687	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOVA2	HGNC	protein_coding	OTTHUMT00000437210.2	-	0.00	52	0	G	NM_002516		46443970	-1	tier1	-	no_errors	ENST00000263257	ensembl	human	known	74_37	silent	32.26	42	20	SNP	1.000	C
NRD1	4898	genome.wustl.edu	37	1	52279933	52279933	+	Intron	SNP	T	T	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:52279933T>A	ENST00000354831.7	-	16	2013				NRD1_ENST00000485608.1_Intron|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000539524.1_Intron|NRD1_ENST00000352171.7_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						tttacctacataacaaacctg	0.373																																																	0																																										SO:0001627	intron_variant	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1824-172A>T	1.37:g.52279933T>A			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	RNA	SNP	-	NULL	ENST00000354831.7	37	NULL	CCDS559.1	1																																																																																			NRD1	-	-	ENSG00000078618		0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	-	0.00	11	0	T	NM_002525		52279933	-1	tier1	-	no_errors	ENST00000483007	ensembl	human	known	74_37	rna	40.00	6	4	SNP	0.896	A
NUP188	23511	genome.wustl.edu	37	9	131768007	131768007	+	Silent	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:131768007C>T	ENST00000372577.2	+	41	4842	c.4821C>T	c.(4819-4821)ttC>ttT	p.F1607F	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1607					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.F1607F(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCCCCTCCTTCGGGACCCTTC	0.572																																																	1	Substitution - coding silent(1)	breast(1)											211.0	204.0	206.0					9																	131768007		2203	4300	6503	SO:0001819	synonymous_variant	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4821C>T	9.37:g.131768007C>T			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.F1607	ENST00000372577.2	37	c.4821	CCDS35156.1	9																																																																																			NUP188	-	NULL	ENSG00000095319		0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0.00	112	0	C			131768007	+1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	silent	44.83	48	39	SNP	0.097	T
OMA1	115209	genome.wustl.edu	37	1	59004813	59004813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:59004813C>A	ENST00000371226.3	-	2	267	c.154G>T	c.(154-156)Gga>Tga	p.G52*	OMA1_ENST00000358603.2_Nonsense_Mutation_p.G52*|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	52					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					ACTCCCAGTCCCTGATACTTA	0.383																																																	0													110.0	113.0	112.0					1																	59004813		2203	4300	6503	SO:0001587	stop_gained	0			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.154G>T	1.37:g.59004813C>A	ENSP00000360270:p.Gly52*		D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Nonsense_Mutation	SNP	pfam_Peptidase_M48	p.G52*	ENST00000371226.3	37	c.154	CCDS608.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048729	0.75846	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	.	.	.	5.21	2.27	0.28462	.	0.483919	0.19585	N	0.110755	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.8859	3.1132	0.06365	0.2032:0.538:0.0:0.2588	.	.	.	.	X	52	.	.	G	-	1	0	OMA1	58777401	0.000000	0.05858	0.010000	0.14722	0.330000	0.28571	0.244000	0.18124	0.856000	0.35383	0.655000	0.94253	GGA	OMA1	-	NULL	ENSG00000162600		0.383	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	-	0.00	48	0	C	NM_145243		59004813	-1	tier1	-	no_errors	ENST00000371226	ensembl	human	known	74_37	nonsense	77.50	9	31	SNP	0.044	A
OR13C3	138803	genome.wustl.edu	37	9	107298339	107298339	+	Silent	SNP	G	G	C	rs535495429		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:107298339G>C	ENST00000374781.2	-	1	798	c.756C>G	c.(754-756)ctC>ctG	p.L252L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGATGGTGTAGAGGATGAACA	0.423																																					GBM(86;1248 1274 14222 15028 46219)												0													95.0	93.0	94.0					9																	107298339		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.756C>G	9.37:g.107298339G>C			Q5VVG1|Q6IF52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L252	ENST00000374781.2	37	c.756	CCDS35089.1	9																																																																																			OR13C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000204246		0.423	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	-	0.00	65	0	G			107298339	-1	tier1	-	no_errors	ENST00000374781	ensembl	human	known	74_37	silent	32.10	55	26	SNP	0.072	C
OR1B1	347169	genome.wustl.edu	37	9	125391770	125391770	+	Missense_Mutation	SNP	C	C	A	rs398102330|rs78126045|rs11421222	byFrequency	TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:125391770C>A	ENST00000304833.3	-	1	82	c.45G>T	c.(43-45)ttG>ttT	p.L15F	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ACCCAAGGAGCAAAAAAACCG	0.478																																																	0													86.0	87.0	87.0					9																	125391770		2201	4298	6499	SO:0001583	missense	0			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.45G>T	9.37:g.125391770C>A	ENSP00000303151:p.Leu15Phe		Q6IFN3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L15F	ENST00000304833.3	37	c.45	CCDS35126.1	9	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428405	0.25726	.	.	ENSG00000171484	ENST00000304833	T	0.00596	6.32	4.23	-0.257	0.12979	.	0.000000	0.29924	N	0.010849	T	0.00815	0.0027	L	0.28014	0.82	0.09310	N	1	D	0.63880	0.993	D	0.66351	0.943	T	0.55296	-0.8163	10	0.42905	T	0.14	-2.6684	2.3371	0.04251	0.3701:0.2703:0.2663:0.0933	.	15	Q8NGR6	OR1B1_HUMAN	F	15	ENSP00000303151:L15F	ENSP00000303151:L15F	L	-	3	2	OR1B1	124431591	0.257000	0.24022	0.547000	0.28179	0.260000	0.26232	-0.625000	0.05534	0.133000	0.18654	0.555000	0.69702	TTG	OR1B1	-	NULL	ENSG00000171484		0.478	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1B1	HGNC	protein_coding	OTTHUMT00000053947.2		0.00	55	0	C	NM_001004450		125391770	-1			no_errors	ENST00000304833	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.004	A
OR2AT4	341152	genome.wustl.edu	37	11	74800003	74800003	+	Silent	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:74800003G>T	ENST00000305159.3	-	1	796	c.756C>A	c.(754-756)gtC>gtA	p.V252V		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGTGCCCACGACCAGAAGGT	0.542																																																	0													66.0	63.0	64.0					11																	74800003		2200	4293	6493	SO:0001819	synonymous_variant	0			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.756C>A	11.37:g.74800003G>T			B9EGZ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.V252	ENST00000305159.3	37	c.756	CCDS31639.1	11																																																																																			OR2AT4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171561		0.542	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AT4	HGNC	protein_coding	OTTHUMT00000383734.1	-	0.00	46	0	G	NM_001005285		74800003	-1	tier1	-	no_errors	ENST00000305159	ensembl	human	known	74_37	silent	28.57	45	18	SNP	1.000	T
ORC2	4999	genome.wustl.edu	37	2	201790582	201790582	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:201790582C>A	ENST00000234296.2	-	13	1373	c.1124G>T	c.(1123-1125)tGg>tTg	p.W375L	RN7SL694P_ENST00000584245.1_RNA	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	375					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GTTTACTATCCAGTCTAGCTG	0.348																																																	0													150.0	144.0	146.0					2																	201790582		2203	4300	6503	SO:0001583	missense	0				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1124G>T	2.37:g.201790582C>A	ENSP00000234296:p.Trp375Leu		Q13204|Q53TX5	Missense_Mutation	SNP	pfam_ORC2	p.W375L	ENST00000234296.2	37	c.1124	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	C	6.506	0.461521	0.12342	.	.	ENSG00000115942	ENST00000234296	T	0.38240	1.15	5.34	4.46	0.54185	.	0.338502	0.33110	N	0.005262	T	0.14960	0.0361	N	0.04090	-0.28	0.36608	D	0.87506	B;B	0.15141	0.0;0.012	B;B	0.21151	0.012;0.033	T	0.13953	-1.0490	10	0.10111	T	0.7	-4.1704	7.6907	0.28567	0.2666:0.6508:0.0:0.0826	.	375;375	B4DYU9;Q13416	.;ORC2_HUMAN	L	375	ENSP00000234296:W375L	ENSP00000234296:W375L	W	-	2	0	ORC2	201498827	1.000000	0.71417	0.999000	0.59377	0.776000	0.43924	2.764000	0.47613	1.396000	0.46663	0.585000	0.79938	TGG	ORC2	-	pfam_ORC2	ENSG00000115942		0.348	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2		0.00	49	0	C	NM_006190		201790582	-1			no_errors	ENST00000234296	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.999	A
OSBPL5	114879	genome.wustl.edu	37	11	3150332	3150332	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:3150332G>T	ENST00000263650.7	-	2	206	c.47C>A	c.(46-48)cCt>cAt	p.P16H	OSBPL5_ENST00000542243.1_5'UTR|OSBPL5_ENST00000348039.5_Missense_Mutation_p.P16H|OSBPL5_ENST00000525498.1_5'Flank|OSBPL5_ENST00000389989.3_Missense_Mutation_p.P16H	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	16					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGTGGAGGAAGGTGGACACAG	0.642																																																	0													47.0	38.0	41.0					11																	3150332		2199	4296	6495	SO:0001583	missense	0			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.47C>A	11.37:g.3150332G>T	ENSP00000263650:p.Pro16His		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P16H	ENST00000263650.7	37	c.47	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	g	13.07	2.128297	0.37533	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000348039;ENST00000533234;ENST00000526122;ENST00000530372;ENST00000533721;ENST00000534157	T;T;T;T;T;T;T	0.47528	1.52;1.47;1.47;0.9;0.89;0.86;0.84	3.53	3.53	0.40419	.	1.016370	0.07892	U	0.971261	T	0.47820	0.1466	N	0.19112	0.55	0.80722	D	1	P;P;D	0.63880	0.93;0.697;0.993	P;B;P	0.52856	0.533;0.19;0.711	T	0.45760	-0.9239	10	0.72032	D	0.01	0.3973	13.3376	0.60526	0.0:0.0:1.0:0.0	.	16;16;16	E7EP03;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	H	16	ENSP00000263650:P16H;ENSP00000374639:P16H;ENSP00000302872:P16H;ENSP00000436950:P16H;ENSP00000433754:P16H;ENSP00000435812:P16H;ENSP00000432507:P16H	ENSP00000263650:P16H	P	-	2	0	OSBPL5	3106908	0.661000	0.27430	0.014000	0.15608	0.653000	0.38743	3.118000	0.50414	1.535000	0.49220	0.436000	0.28706	CCT	OSBPL5	-	NULL	ENSG00000021762		0.642	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	-	0.00	75	0	G			3150332	-1	tier1	-	no_errors	ENST00000263650	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.116	T
PHKA1	5255	genome.wustl.edu	37	X	71876026	71876026	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chrX:71876026G>A	ENST00000373542.4	-	10	1144	c.985C>T	c.(985-987)Cca>Tca	p.P329S	PHKA1_ENST00000373539.3_Missense_Mutation_p.P329S|PHKA1_ENST00000339490.3_Missense_Mutation_p.P329S|PHKA1_ENST00000541944.1_Missense_Mutation_p.P329S|PHKA1_ENST00000373545.3_Missense_Mutation_p.P329S	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	329					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAGAACAATGGCCATTCACAC	0.393																																																	0													149.0	122.0	131.0					X																	71876026		2203	4300	6503	SO:0001583	missense	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.985C>T	X.37:g.71876026G>A	ENSP00000362643:p.Pro329Ser		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.P329S	ENST00000373542.4	37	c.985	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	g	23.5	4.428344	0.83667	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09	4.99	4.99	0.66335	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.98376	1.0556	10	0.87932	D	0	-11.9608	14.814	0.70017	0.0:0.0:1.0:0.0	.	329;329;329	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	S	329	ENSP00000362646:P329S;ENSP00000362643:P329S;ENSP00000441251:P329S;ENSP00000342469:P329S;ENSP00000362640:P329S	ENSP00000342469:P329S	P	-	1	0	PHKA1	71792751	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.326000	0.96389	2.081000	0.62600	0.279000	0.19357	CCA	PHKA1	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	ENSG00000067177		0.393	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1		0.00	35	0	G			71876026	-1			no_errors	ENST00000373539	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A
PCDH11X	27328	genome.wustl.edu	37	X	91518126	91518126	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chrX:91518126G>A	ENST00000373094.1	+	4	3973	c.3128G>A	c.(3127-3129)gGg>gAg	p.G1043E	PCDH11X_ENST00000406881.1_Missense_Mutation_p.G1043E|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G1043E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1043					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAATCTGAAGGGAAAGTGGCA	0.348																																					NSCLC(38;925 1092 2571 38200 45895)												0													46.0	41.0	43.0					X																	91518126		2201	4297	6498	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3128G>A	X.37:g.91518126G>A	ENSP00000362186:p.Gly1043Glu		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1043E	ENST00000373094.1	37	c.3128	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	0.453	-0.892755	0.02491	.	.	ENSG00000102290	ENST00000373094;ENST00000504220;ENST00000406881;ENST00000356934	T;T;T	0.54279	0.74;0.58;0.76	4.37	3.44	0.39384	.	0.887861	0.09209	U	0.833567	T	0.46718	0.1407	N	0.19112	0.55	0.09310	N	0.999996	D;B;D	0.58268	0.982;0.004;0.969	P;B;P	0.51866	0.682;0.013;0.483	T	0.26360	-1.0105	10	0.27082	T	0.32	.	10.1122	0.42570	0.0:0.2247:0.7753:0.0	.	1043;1043;1043	Q9BZA7-6;Q9BZA7-8;Q9BZA7	.;.;PC11X_HUMAN	E	1043	ENSP00000362186:G1043E;ENSP00000423762:G1043E;ENSP00000384758:G1043E	ENSP00000349408:G1043E	G	+	2	0	PCDH11X	91404782	0.989000	0.36119	0.494000	0.27515	0.028000	0.11728	1.449000	0.35123	1.755000	0.51935	0.415000	0.27848	GGG	PCDH11X	-	NULL	ENSG00000102290		0.348	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0.00	138	0	G	NM_032969		91518126	+1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	73.48	35	97	SNP	0.243	A
PIGT	51604	genome.wustl.edu	37	20	44054363	44054363	+	Missense_Mutation	SNP	A	A	G	rs376655698		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:44054363A>G	ENST00000279036.6	+	12	1714	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	PIGT_ENST00000372689.5_Missense_Mutation_p.N478S|PIGT_ENST00000543458.2_Missense_Mutation_p.N489S|PIGT_ENST00000279035.9_Missense_Mutation_p.N443S|PIGT_ENST00000545755.1_Missense_Mutation_p.N283S|PIGT_ENST00000341555.5_Missense_Mutation_p.N351S|PIGT_ENST00000535404.1_Missense_Mutation_p.N390S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	545					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TCCTTCTACAATCTCCTCACC	0.642																																																	0													62.0	42.0	49.0					20																	44054363		2203	4300	6503	SO:0001583	missense	0				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1634A>G	20.37:g.44054363A>G	ENSP00000279036:p.Asn545Ser		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	pfam_PIG-T	p.N545S	ENST00000279036.6	37	c.1634	CCDS13353.1	20	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335041	0.81801	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.68174	0.2972	M	0.71296	2.17	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0;0.998;0.988;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.955;0.998;0.998;0.999;0.994;0.956;0.998;0.998	T	0.69457	-0.5140	10	0.52906	T	0.07	-26.9249	15.7569	0.78037	1.0:0.0:0.0:0.0	.	383;443;390;489;390;334;283;221;545	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7Z1F1;Q969N2-3;B7Z1N3;B7Z4T7;Q969N2	.;.;.;.;.;.;.;.;PIGT_HUMAN	S	489;478;443;545;283;351;390	ENSP00000441577:N489S;ENSP00000361774:N478S;ENSP00000279035:N443S;ENSP00000279036:N545S;ENSP00000443963:N283S;ENSP00000343783:N351S;ENSP00000440528:N390S	ENSP00000279035:N443S	N	+	2	0	PIGT	43487777	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	9.268000	0.95675	2.371000	0.80710	0.533000	0.62120	AAT	PIGT	-	pfam_PIG-T	ENSG00000124155		0.642	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2	-	0.00	88	0	A	NM_015937		44054363	+1	tier1	-	no_errors	ENST00000279036	ensembl	human	known	74_37	missense	39.22	62	40	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, 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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	124	0	G			178936091	+1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	39.93	164	109	SNP	1.000	A
PIRT	644139	genome.wustl.edu	37	17	10728609	10728609	+	Silent	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr17:10728609C>T	ENST00000580256.2	-	2	992	c.354G>A	c.(352-354)caG>caA	p.Q118Q		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	118						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GTCTGTGCTTCTGTTTCTTTT	0.537																																																	0													91.0	92.0	92.0					17																	10728609		2092	4220	6312	SO:0001819	synonymous_variant	0			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.354G>A	17.37:g.10728609C>T			B7Z648	Silent	SNP	NULL	p.Q118	ENST00000580256.2	37	c.354	CCDS45614.1	17																																																																																			PIRT	-	NULL	ENSG00000233670		0.537	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIRT	HGNC	protein_coding	OTTHUMT00000441078.2	-	0.00	91	0	C	NM_001101387		10728609	-1	tier1	-	no_errors	ENST00000580256	ensembl	human	known	74_37	silent	32.18	59	28	SNP	1.000	T
PKD1	5310	genome.wustl.edu	37	16	2160143	2160143	+	Silent	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr16:2160143G>A	ENST00000262304.4	-	15	5233	c.5025C>T	c.(5023-5025)gcC>gcT	p.A1675A	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.A1675A	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1675	PKD 12. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGCCGGCCAGGGCCGGGCCCC	0.682																																																	0													13.0	14.0	14.0					16																	2160143		2166	4266	6432	SO:0001819	synonymous_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5025C>T	16.37:g.2160143G>A			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A1675	ENST00000262304.4	37	c.5025	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.465916	0.01053	.	.	ENSG00000008710	ENST00000306101	.	.	.	5.41	2.3	0.28687	.	.	.	.	.	T	0.32823	0.0842	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	T	0.04930	-1.0917	5	0.10636	T	0.68	.	4.0657	0.09859	0.0751:0.3273:0.3583:0.2393	.	.	.	.	S	1209	.	ENSP00000302503:P1209S	P	-	1	0	PKD1	2100144	0.020000	0.18652	0.026000	0.17262	0.057000	0.15508	0.409000	0.21082	0.251000	0.21505	0.550000	0.68814	CCT	PKD1	-	pfam_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat	ENSG00000008710		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0.00	150	0	G			2160143	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	silent	59.50	49	72	SNP	0.050	A
PKN2	5586	genome.wustl.edu	37	1	89250469	89250469	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:89250469G>A	ENST00000370521.3	+	7	1492	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E	PKN2_ENST00000316005.7_Missense_Mutation_p.G378E|PKN2_ENST00000370513.5_Missense_Mutation_p.G378E|PKN2_ENST00000370505.3_Missense_Mutation_p.G221E|PKN2_ENST00000544045.1_Missense_Mutation_p.G52E	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	378	C2.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGTAAAAGCGGAAGTAGTCGA	0.393																																																	0													101.0	99.0	99.0					1																	89250469		1871	4100	5971	SO:0001583	missense	0			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1133G>A	1.37:g.89250469G>A	ENSP00000359552:p.Gly378Glu		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.G378E	ENST00000370521.3	37	c.1133	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500621	0.44455	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.20738	2.06;2.06;2.06;2.05;2.05	5.57	5.57	0.84162	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.44483	U	0.000454	T	0.14399	0.0348	M	0.64404	1.975	0.48288	D	0.999628	B;B;B	0.32245	0.017;0.1;0.361	B;B;B	0.27500	0.017;0.03;0.08	T	0.01528	-1.1332	10	0.52906	T	0.07	.	16.1966	0.82029	0.0:0.133:0.867:0.0	.	378;378;378	E7ESL7;Q16513;B1AL79	.;PKN2_HUMAN;.	E	378;378;221;378;52	ENSP00000359552:G378E;ENSP00000317851:G378E;ENSP00000359536:G221E;ENSP00000359544:G378E;ENSP00000439643:G52E	ENSP00000317851:G378E	G	+	2	0	PKN2	89023057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.929000	0.56514	2.785000	0.95823	0.591000	0.81541	GGA	PKN2	-	superfamily_C2_dom,smart_C2_dom	ENSG00000065243		0.393	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	-	0.00	104	0	G	NM_006256		89250469	+1	tier1	-	no_errors	ENST00000370521	ensembl	human	known	74_37	missense	11.27	63	8	SNP	1.000	A
PLXNA4	91584	genome.wustl.edu	37	7	131908323	131908323	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:131908323G>A	ENST00000359827.3	-	9	3022	c.2060C>T	c.(2059-2061)aCc>aTc	p.T687I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T687I			Q9HCM2	PLXA4_HUMAN	plexin A4	687	PSI 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAAGGAGCAGGTCTTGGGGTC	0.602																																																	0													44.0	47.0	46.0					7																	131908323		2065	4238	6303	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2060C>T	7.37:g.131908323G>A	ENSP00000352882:p.Thr687Ile		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.T687I	ENST00000359827.3	37	c.2060	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081295	0.36758	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.17370	2.28;2.28	5.8	5.8	0.92144	.	0.099077	0.64402	D	0.000002	T	0.19287	0.0463	L	0.50333	1.59	0.44771	D	0.997771	B	0.22851	0.076	B	0.22386	0.039	T	0.01349	-1.1378	10	0.40728	T	0.16	.	15.2975	0.73922	0.0:0.0:0.8593:0.1407	.	687	Q9HCM2	PLXA4_HUMAN	I	687	ENSP00000323194:T687I;ENSP00000352882:T687I	ENSP00000323194:T687I	T	-	2	0	PLXNA4	131558863	0.919000	0.31177	0.883000	0.34634	0.749000	0.42624	1.397000	0.34543	2.755000	0.94549	0.655000	0.94253	ACC	PLXNA4	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000221866		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0.00	88	0	G	NM_181775		131908323	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	44.94	49	40	SNP	0.909	A
PNMA1	9240	genome.wustl.edu	37	14	74179414	74179414	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:74179414A>T	ENST00000316836.3	-	1	1714	c.929T>A	c.(928-930)cTt>cAt	p.L310H		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	310					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		agccccggtaagccacagctg	0.622																																																	0													28.0	28.0	28.0					14																	74179414		2203	4300	6503	SO:0001583	missense	0			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.929T>A	14.37:g.74179414A>T	ENSP00000318914:p.Leu310His		A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	superfamily_Globin-like	p.L310H	ENST00000316836.3	37	c.929	CCDS9818.1	14	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521028	0.64747	.	.	ENSG00000176903	ENST00000316836	T	0.10960	2.82	4.59	4.59	0.56863	.	0.436105	0.17147	N	0.185230	T	0.27349	0.0671	L	0.61218	1.895	0.37406	D	0.91306	D	0.89917	1.0	D	0.78314	0.991	T	0.02975	-1.1087	10	0.40728	T	0.16	-21.1577	10.6565	0.45678	1.0:0.0:0.0:0.0	.	310	Q8ND90	PNMA1_HUMAN	H	310	ENSP00000318914:L310H	ENSP00000318914:L310H	L	-	2	0	PNMA1	73249167	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.571000	0.53841	2.288000	0.76882	0.533000	0.62120	CTT	PNMA1	-	NULL	ENSG00000176903		0.622	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA1	HGNC	protein_coding	OTTHUMT00000402774.1	-	0.00	63	0	A	NM_006029		74179414	-1	tier1	-	no_errors	ENST00000316836	ensembl	human	known	74_37	missense	58.33	25	35	SNP	1.000	T
POSTN	10631	genome.wustl.edu	37	13	38166244	38166244	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr13:38166244G>C	ENST00000379747.4	-	3	393	c.276C>G	c.(274-276)tgC>tgG	p.C92W	POSTN_ENST00000541481.1_Missense_Mutation_p.C92W|POSTN_ENST00000541179.1_Missense_Mutation_p.C92W|POSTN_ENST00000379742.4_Missense_Mutation_p.C92W|POSTN_ENST00000379749.4_Missense_Mutation_p.C92W|POSTN_ENST00000379743.4_Missense_Mutation_p.C92W	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	92	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TACCTGCTGGGCAGCCTTTCA	0.338																																																	0													64.0	64.0	64.0					13																	38166244		2203	4300	6503	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.276C>G	13.37:g.38166244G>C	ENSP00000369071:p.Cys92Trp		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.C92W	ENST00000379747.4	37	c.276	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228835	0.39399	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.07	-0.721	0.11189	EMI domain (1);FAS1 domain (1);	0.043410	0.85682	D	0.000000	D	0.94568	0.8250	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.991;0.999;0.999;0.999;0.996;1.0;0.999	D	0.92626	0.6112	10	0.72032	D	0.01	.	11.4818	0.50331	0.6613:0.0:0.3387:0.0	.	92;92;92;92;92;92;92	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	W	92;92;92;92;92;92;9	ENSP00000437959:C92W;ENSP00000369073:C92W;ENSP00000369071:C92W;ENSP00000369067:C92W;ENSP00000369066:C92W;ENSP00000437953:C92W	ENSP00000369066:C92W	C	-	3	2	POSTN	37064244	0.114000	0.22134	0.981000	0.43875	0.692000	0.40212	-0.475000	0.06599	-0.452000	0.07087	-0.965000	0.02619	TGC	POSTN	-	superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain	ENSG00000133110		0.338	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0.00	100	0	G	NM_006475		38166244	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	missense	31.30	90	41	SNP	0.971	C
PPP2R5B	5526	genome.wustl.edu	37	11	64695604	64695604	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:64695604T>C	ENST00000164133.2	+	5	1187	c.565T>C	c.(565-567)Tat>Cat	p.Y189H		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	189					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.Y189H(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GGCCAAGAGATATGTGGATCA	0.562																																																	1	Substitution - Missense(1)	endometrium(1)											129.0	122.0	125.0					11																	64695604		2201	4297	6498	SO:0001583	missense	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.565T>C	11.37:g.64695604T>C	ENSP00000164133:p.Tyr189His		Q13853	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.Y189H	ENST00000164133.2	37	c.565	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945821	0.53079	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.47	3.47	0.39725	Armadillo-type fold (1);	0.327444	0.29403	N	0.012256	T	0.54806	0.1881	L	0.48986	1.54	0.53005	D	0.999963	B	0.10296	0.003	B	0.17098	0.017	T	0.58869	-0.7560	9	0.66056	D	0.02	-1.4257	10.6363	0.45567	0.0:0.0:0.0:1.0	.	189	Q15173	2A5B_HUMAN	H	189;189;216;103;189	.	ENSP00000164133:Y189H	Y	+	1	0	PPP2R5B	64452180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.465000	0.80898	1.846000	0.53633	0.449000	0.29647	TAT	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.562	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	-	0.00	110	0	T	NM_006244		64695604	+1	tier1	-	no_errors	ENST00000164133	ensembl	human	known	74_37	missense	51.25	39	41	SNP	1.000	C
PRKD2	25865	genome.wustl.edu	37	19	47197277	47197277	+	Silent	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:47197277G>A	ENST00000291281.4	-	10	1656	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	PRKD2_ENST00000601806.1_Silent_p.F320F|PRKD2_ENST00000433867.1_Silent_p.F477F|PRKD2_ENST00000595515.1_Silent_p.F477F|PRKD2_ENST00000600194.1_Silent_p.F320F			Q9BZL6	KPCD2_HUMAN	protein kinase D2	477	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|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 fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCTCGCCCACGAAGTAGGTGG	0.672																																																	0													64.0	53.0	57.0					19																	47197277		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1431C>T	19.37:g.47197277G>A			Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.F477	ENST00000291281.4	37	c.1431	CCDS12689.1	19																																																																																			PRKD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000105287		0.672	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	-	0.00	76	0	G	NM_016457		47197277	-1	tier1	-	no_errors	ENST00000291281	ensembl	human	known	74_37	silent	46.55	31	27	SNP	0.953	A
PRL	5617	genome.wustl.edu	37	6	22287656	22287656	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:22287656C>T	ENST00000306482.1	-	5	1177	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	220					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GTGGATGATTCGGCACTTCAG	0.428																																																	0													293.0	259.0	271.0					6																	22287656		2203	4300	6503	SO:0001583	missense	0			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.659G>A	6.37:g.22287656C>T	ENSP00000302150:p.Arg220Gln		Q15199|Q92996	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R220Q	ENST00000306482.1	37	c.659	CCDS4548.1	6	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939494	0.52972	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.92911	-3.13	5.55	3.66	0.41972	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.110178	0.64402	N	0.000006	D	0.85725	0.5763	M	0.75884	2.315	0.53688	D	0.999977	B;P	0.41313	0.347;0.745	B;B	0.38056	0.133;0.264	D	0.83624	0.0141	10	0.45353	T	0.12	0.168	9.6308	0.39778	0.0:0.8123:0.0:0.1877	.	220;221	P01236;Q5I0G2	PRL_HUMAN;.	Q	220;189	ENSP00000302150:R220Q	ENSP00000302150:R220Q	R	-	2	0	PRL	22395635	0.999000	0.42202	0.978000	0.43139	0.671000	0.39405	1.534000	0.36051	0.690000	0.31570	0.655000	0.94253	CGA	PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000172179		0.428	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	-	0.00	72	0	C	NM_000948		22287656	-1	tier1	-	no_errors	ENST00000306482	ensembl	human	known	74_37	missense	36.73	31	18	SNP	0.999	T
PSD	5662	genome.wustl.edu	37	10	104176706	104176706	+	Silent	SNP	C	C	T	rs371738181		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr10:104176706C>T	ENST00000020673.5	-	2	616	c.90G>A	c.(88-90)ccG>ccA	p.P30P	FBXL15_ENST00000224862.3_5'Flank|FBXL15_ENST00000369956.2_5'Flank|PSD_ENST00000406432.1_Silent_p.P30P|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	30	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCTGGGGCACCGGGCCTTCGG	0.697																																																	0								C		0,4352		0,0,2176	18.0	20.0	19.0		90	-9.1	0.0	10		19	1,8533		0,1,4266	no	coding-synonymous	PSD	NM_002779.3		0,1,6442	TT,TC,CC		0.0117,0.0,0.0078		30/1025	104176706	1,12885	2176	4267	6443	SO:0001819	synonymous_variant	0			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.90G>A	10.37:g.104176706C>T			B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.P30	ENST00000020673.5	37	c.90	CCDS31272.1	10																																																																																			PSD	-	NULL	ENSG00000059915		0.697	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	-	0.00	59	0	C			104176706	-1	tier1	-	no_errors	ENST00000020673	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.001	T
PTPRZ1	5803	genome.wustl.edu	37	7	121650679	121650679	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:121650679C>T	ENST00000393386.2	+	12	1990	c.1579C>T	c.(1579-1581)Cca>Tca	p.P527S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P527S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	527					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GACTGAACTGCCACCTCACAC	0.413																																																	0													83.0	79.0	80.0					7																	121650679		2203	4300	6503	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1579C>T	7.37:g.121650679C>T	ENSP00000377047:p.Pro527Ser		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.P527S	ENST00000393386.2	37	c.1579	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	1.991	-0.431683	0.04669	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.49139	0.79;0.88	5.08	4.2	0.49525	.	0.507119	0.19533	N	0.111988	T	0.65354	0.2683	M	0.65975	2.015	0.19300	N	0.99997	B;D	0.89917	0.003;1.0	B;D	0.83275	0.003;0.996	T	0.57505	-0.7800	10	0.41790	T	0.15	.	13.6211	0.62138	0.0:0.9235:0.0:0.0765	.	527;527	C9JFM0;P23471	.;PTPRZ_HUMAN	S	527	ENSP00000377047:P527S;ENSP00000410000:P527S	ENSP00000377047:P527S	P	+	1	0	PTPRZ1	121437915	0.027000	0.19231	0.037000	0.18230	0.125000	0.20455	1.159000	0.31749	1.472000	0.48140	-0.137000	0.14449	CCA	PTPRZ1	-	NULL	ENSG00000106278		0.413	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0.00	76	0	C	NM_002851		121650679	+1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.267	T
PXMP4	11264	genome.wustl.edu	37	20	32307929	32307929	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:32307929C>T	ENST00000409299.3	-	1	177	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	PXMP4_ENST00000217398.3_Missense_Mutation_p.V29M|PXMP4_ENST00000344022.3_Missense_Mutation_p.V29M	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	29						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CCCTTAAGCACGGCCAACGCA	0.692																																																	0													42.0	43.0	43.0					20																	32307929		2203	4300	6503	SO:0001583	missense	0			AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.85G>A	20.37:g.32307929C>T	ENSP00000386385:p.Val29Met		A2A2I7|Q9H0T4	Missense_Mutation	SNP	pirsf_Pmp4	p.V29M	ENST00000409299.3	37	c.85	CCDS13225.1	20	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728996	0.48833	.	.	ENSG00000101417	ENST00000409299;ENST00000344022;ENST00000217398	T	0.33216	1.42	5.6	-11.2	0.00127	.	0.373210	0.30667	N	0.009131	T	0.11196	0.0273	N	0.25789	0.76	0.27248	N	0.958975	P;B;B	0.37594	0.601;0.063;0.02	B;B;B	0.26517	0.07;0.013;0.023	T	0.07290	-1.0780	10	0.49607	T	0.09	-8.9904	9.8299	0.40934	0.0839:0.5687:0.2531:0.0942	.	29;29;29	B4DWH1;A2A2I7;Q9Y6I8	.;.;PXMP4_HUMAN	M	29	ENSP00000386385:V29M	ENSP00000217398:V29M	V	-	1	0	PXMP4	31771590	0.000000	0.05858	0.030000	0.17652	0.652000	0.38707	-0.335000	0.07873	-2.086000	0.00863	-1.251000	0.01509	GTG	PXMP4	-	pirsf_Pmp4	ENSG00000101417		0.692	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP4	HGNC	protein_coding	OTTHUMT00000078739.2	-	0.00	180	0	C	NM_007238		32307929	-1	tier1	-	no_errors	ENST00000409299	ensembl	human	known	74_37	missense	35.63	159	88	SNP	0.015	T
RHEB	6009	genome.wustl.edu	37	7	151167700	151167700	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:151167700G>T	ENST00000262187.5	-	7	831	c.419C>A	c.(418-420)tCt>tAt	p.S140Y	RHEB_ENST00000472642.1_Missense_Mutation_p.S35Y|RHEB_ENST00000496004.1_Missense_Mutation_p.S35Y	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	140					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		TGCATTCCAAGATTCTGCCAA	0.338																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)												0													73.0	74.0	74.0					7																	151167700		2202	4298	6500	SO:0001583	missense	0			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.419C>A	7.37:g.151167700G>T	ENSP00000262187:p.Ser140Tyr		B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S140Y	ENST00000262187.5	37	c.419	CCDS5927.1	7	.	.	.	.	.	.	.	.	.	.	G	17.58	3.426128	0.62733	.	.	ENSG00000106615	ENST00000262187;ENST00000472642;ENST00000496004	T;T;T	0.78364	-1.17;-1.17;-1.17	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.059442	0.64402	D	0.000001	T	0.79227	0.4410	M	0.72624	2.21	0.80722	D	1	B	0.26195	0.144	B	0.30105	0.111	T	0.79470	-0.1790	10	0.72032	D	0.01	.	17.4241	0.87522	0.0:0.0:1.0:0.0	.	140	Q15382	RHEB_HUMAN	Y	140;35;35	ENSP00000262187:S140Y;ENSP00000420726:S35Y;ENSP00000418161:S35Y	ENSP00000262187:S140Y	S	-	2	0	RHEB	150798633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.611000	0.98342	2.429000	0.82318	0.591000	0.81541	TCT	RHEB	-	pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000106615		0.338	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHEB	HGNC	protein_coding	OTTHUMT00000348468.2		0.00	55	0	G	NM_005614		151167700	-1			no_errors	ENST00000262187	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
ROCK2	9475	genome.wustl.edu	37	2	11332666	11332666	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:11332666G>A	ENST00000315872.6	-	31	4308	c.3860C>T	c.(3859-3861)cCt>cTt	p.P1287L	ROCK2_ENST00000401753.1_Missense_Mutation_p.P1044L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1287	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGCAGGAGGAGGCTTAAACAT	0.413																																																	0													74.0	67.0	69.0					2																	11332666		1870	4093	5963	SO:0001583	missense	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3860C>T	2.37:g.11332666G>A	ENSP00000317985:p.Pro1287Leu		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P1287L	ENST00000315872.6	37	c.3860	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.236778	0.95240	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.70282	-0.47;0.59	5.52	5.52	0.82312	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88227	0.2901	10	0.87932	D	0	.	19.4403	0.94817	0.0:0.0:1.0:0.0	.	1287	O75116	ROCK2_HUMAN	L	1287;1044;645	ENSP00000317985:P1287L;ENSP00000385509:P1044L	ENSP00000317985:P1287L	P	-	2	0	ROCK2	11250117	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	9.864000	0.99589	2.605000	0.88082	0.591000	0.81541	CCT	ROCK2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000134318		0.413	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	-	0.00	72	0	G			11332666	-1	tier1	-	no_errors	ENST00000315872	ensembl	human	known	74_37	missense	39.36	57	37	SNP	1.000	A
RPL13AP3	645683	genome.wustl.edu	37	14	56233183	56233183	+	lincRNA	SNP	C	C	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:56233183C>A	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CCAAGCGAGGCCATGCCTCCC	0.612																																																	0																																												0																															14.37:g.56233183C>A				RNA	SNP	-	NULL	ENST00000554458.1	37	NULL		14																																																																																			RPL13AP3	-	-	ENSG00000177350		0.612	RP11-813I20.2-001	KNOWN	basic	lincRNA	RPL13AP3	HGNC	lincRNA	OTTHUMT00000411474.1	-	0.00	83	0	C			56233183	+1	tier1	-	no_errors	ENST00000494676	ensembl	human	known	74_37	rna	10.29	61	7	SNP	1.000	A
SAMM50	25813	genome.wustl.edu	37	22	44372658	44372658	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr22:44372658C>G	ENST00000350028.4	+	9	963	c.806C>G	c.(805-807)tCt>tGt	p.S269C	SAMM50_ENST00000396202.3_Missense_Mutation_p.S59C	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	269					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TCTCGGAATTCTTCCATCTTA	0.448																																																	0													131.0	108.0	116.0					22																	44372658		2203	4300	6503	SO:0001583	missense	0			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.806C>G	22.37:g.44372658C>G	ENSP00000345445:p.Ser269Cys		Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	pfam_Bac_surfAg_D15	p.S269C	ENST00000350028.4	37	c.806	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250356	0.59212	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.47869	0.83;0.83	5.23	5.23	0.72850	Bacterial surface antigen (D15) (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.63843	1.955	0.80722	D	1	B;B	0.25609	0.13;0.054	B;B	0.31390	0.129;0.093	T	0.52734	-0.8536	10	0.62326	D	0.03	-17.2435	16.3116	0.82873	0.0:1.0:0.0:0.0	.	74;269	B3KUE6;Q9Y512	.;SAM50_HUMAN	C	269;59	ENSP00000345445:S269C;ENSP00000379505:S59C	ENSP00000345445:S269C	S	+	2	0	SAMM50	42703991	1.000000	0.71417	0.891000	0.34965	0.998000	0.95712	7.015000	0.76387	2.603000	0.88011	0.650000	0.86243	TCT	SAMM50	-	pfam_Bac_surfAg_D15	ENSG00000100347		0.448	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	-	0.00	102	0	C	NM_015380		44372658	+1	tier1	-	no_errors	ENST00000350028	ensembl	human	known	74_37	missense	41.46	48	34	SNP	1.000	G
SCN1A	6323	genome.wustl.edu	37	2	166900237	166900237	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:166900237G>A	ENST00000303395.4	-	11	1984	c.1985C>T	c.(1984-1986)tCg>tTg	p.S662L	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Intron|SCN1A_ENST00000375405.3_Missense_Mutation_p.S662L|SCN1A_ENST00000423058.2_Missense_Mutation_p.S662L|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	662					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.S662L(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCAACAGGCGATGTAGGAAC	0.483																																																	1	Substitution - Missense(1)	skin(1)											116.0	102.0	107.0					2																	166900237		2203	4300	6503	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1985C>T	2.37:g.166900237G>A	ENSP00000303540:p.Ser662Leu		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.S662L	ENST00000303395.4	37	c.1985	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722557	0.48728	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405	D;D;D	0.91407	-2.84;-2.84;-2.84	4.9	4.9	0.64082	Domain of unknown function DUF3451 (1);	0.000000	0.56097	D	0.000028	D	0.86855	0.6033	L	0.39147	1.195	0.58432	D	0.999991	B;B	0.26602	0.045;0.154	B;B	0.25506	0.006;0.061	T	0.83172	-0.0093	10	0.23302	T	0.38	.	18.4438	0.90676	0.0:0.0:1.0:0.0	.	662;662	P35498-2;P35498	.;SCN1A_HUMAN	L	662	ENSP00000407030:S662L;ENSP00000303540:S662L;ENSP00000364554:S662L	ENSP00000303540:S662L	S	-	2	0	SCN1A	166608483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.590000	0.74085	2.423000	0.82170	0.561000	0.74099	TCG	SCN1A	-	pfam_DUF3451	ENSG00000144285		0.483	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0.00	106	0	G	NM_006920		166900237	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	49.51	52	51	SNP	1.000	A
SDHA	6389	genome.wustl.edu	37	5	233760	233760	+	Splice_Site	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr5:233760G>A	ENST00000264932.6	+	8	1179	c.1064G>A	c.(1063-1065)aGa>aAa	p.R355K	SDHA_ENST00000510361.1_Splice_Site_p.R307K|SDHA_ENST00000504309.1_Splice_Site_p.R355K	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	355					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CGAGAAGGAAGGTGCGTGTGA	0.597									Familial Paragangliomas																																								0													121.0	111.0	114.0					5																	233760		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1064+1G>A	5.37:g.233760G>A			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.R355K	ENST00000264932.6	37	c.1064	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	N	26.8	4.769610	0.90020	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.70164	-0.46;-0.46;-0.46	4.51	4.51	0.55191	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.82829	0.5122	M	0.86268	2.805	0.80722	D	1	D;P;D;P;P	0.76494	0.999;0.884;0.987;0.885;0.885	D;P;D;P;P	0.75484	0.986;0.724;0.947;0.658;0.658	D	0.86266	0.1658	10	0.87932	D	0	.	15.0787	0.72096	0.0:0.0:1.0:0.0	.	307;355;355;355;361	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	K	355;210;355;307	ENSP00000264932:R355K;ENSP00000426514:R355K;ENSP00000427703:R307K	ENSP00000264932:R355K	R	+	2	0	SDHA	286760	1.000000	0.71417	0.999000	0.59377	0.575000	0.36095	8.782000	0.91809	2.195000	0.70347	0.650000	0.86243	AGA	SDHA	-	pfam_FAD_bind_dom,superfamily_Succ_DH/fumarate_Rdtase_cat,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	ENSG00000073578		0.597	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	-	0.00	152	0	G	NM_004168	Missense_Mutation	233760	+1	tier1	-	no_errors	ENST00000264932	ensembl	human	known	74_37	missense	60.28	112	170	SNP	1.000	A
SECISBP2	79048	genome.wustl.edu	37	9	91940893	91940893	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:91940893A>G	ENST00000375807.3	+	4	585	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SECISBP2_ENST00000534113.2_Missense_Mutation_p.I104V|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Missense_Mutation_p.I99V	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	172					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATCATCTGAGATAAAATCAGC	0.348																																																	0													110.0	104.0	106.0					9																	91940893		2203	4300	6503	SO:0001583	missense	0			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.514A>G	9.37:g.91940893A>G	ENSP00000364965:p.Ile172Val		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.I172V	ENST00000375807.3	37	c.514	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	A	0.427	-0.905501	0.02453	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.72167	-0.62;-0.63;-0.63;0.87	4.09	-1.47	0.08772	.	0.946660	0.08834	N	0.886867	T	0.44540	0.1298	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.28850	0.07;0.144;0.225;0.07;0.225	B;B;B;B;B	0.24394	0.024;0.016;0.053;0.016;0.037	T	0.21586	-1.0241	10	0.15952	T	0.53	1.0415	1.2699	0.02019	0.3381:0.3571:0.1082:0.1967	.	192;171;99;172;104	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;.;SEBP2_HUMAN;.	V	172;192;99;104;7	ENSP00000364965:I172V;ENSP00000364959:I99V;ENSP00000436650:I104V;ENSP00000414288:I7V	ENSP00000364959:I99V	I	+	1	0	SECISBP2	91130713	0.013000	0.17824	0.000000	0.03702	0.027000	0.11550	-0.002000	0.12924	-0.362000	0.08113	0.459000	0.35465	ATA	SECISBP2	-	NULL	ENSG00000187742		0.348	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	-	0.00	98	0	A	NM_024077		91940893	+1	tier1	-	no_errors	ENST00000375807	ensembl	human	known	74_37	missense	63.33	22	38	SNP	0.001	G
SF1	7536	genome.wustl.edu	37	11	64535684	64535684	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:64535684delC	ENST00000377390.3	-	9	1299	c.962delG	c.(961-963)ggtfs	p.G321fs	SF1_ENST00000489544.1_5'UTR|SF1_ENST00000227503.9_Frame_Shift_Del_p.G321fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.G295fs|SF1_ENST00000422298.2_Frame_Shift_Del_p.G206fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.G321fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.G321fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.G446fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	321					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AGGTGCTTCACCCAGTTCAGC	0.592											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94.0	79.0	84.0					11																	64535684		2201	4297	6498	SO:0001589	frameshift_variant	0			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.962delG	11.37:g.64535684delC	ENSP00000366607:p.Gly321fs	1077	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.G321fs	ENST00000377390.3	37	c.962	CCDS31599.1	11																																																																																			SF1	-	NULL	ENSG00000168066		0.592	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1		0.00	46	0	C	NM_004630		64535684	-1	tier1		no_errors	ENST00000377390	ensembl	human	known	74_37	frame_shift_del	9.68	28	3	DEL	1.000	-
SIPA1	6494	genome.wustl.edu	37	11	65417519	65417519	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:65417519G>A	ENST00000394224.3	+	13	3141	c.2845G>A	c.(2845-2847)Gag>Aag	p.E949K	SIPA1_ENST00000527525.1_Missense_Mutation_p.E847K|SIPA1_ENST00000534313.1_Missense_Mutation_p.E949K|SIPA1_ENST00000394227.3_Missense_Mutation_p.E847K|MIR4489_ENST00000578869.1_RNA	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	949					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCTGTCCCGAGAGGGTGAGGC	0.627																																																	0													79.0	79.0	79.0					11																	65417519		2201	4297	6498	SO:0001583	missense	0			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2845G>A	11.37:g.65417519G>A	ENSP00000377771:p.Glu949Lys		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.E949K	ENST00000394224.3	37	c.2845	CCDS8108.1	11	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252938	0.59212	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	4.1	4.1	0.47936	.	0.650263	0.13320	U	0.396777	T	0.77896	0.4199	L	0.32530	0.975	0.27669	N	0.946831	B;B	0.29531	0.241;0.247	B;B	0.28553	0.075;0.091	T	0.69022	-0.5255	10	0.36615	T	0.2	-7.1095	11.8163	0.52214	0.0:0.0:1.0:0.0	.	847;949	F6RY50;Q96FS4	.;SIPA1_HUMAN	K	949;847;949;847	ENSP00000436269:E949K;ENSP00000433686:E847K;ENSP00000377771:E949K;ENSP00000377774:E847K	ENSP00000377771:E949K	E	+	1	0	SIPA1	65174095	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	5.721000	0.68477	1.843000	0.53566	0.297000	0.19635	GAG	SIPA1	-	NULL	ENSG00000213445		0.627	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	-	0.00	115	0	G	NM_006747		65417519	+1	tier1	-	no_errors	ENST00000394224	ensembl	human	known	74_37	missense	23.36	81	25	SNP	1.000	A
SLC22A24	283238	genome.wustl.edu	37	11	62911100	62911100	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:62911100A>G	ENST00000417740.1	-	1	593	c.152T>C	c.(151-153)gTc>gCc	p.V51A	SLC22A24_ENST00000326192.5_Missense_Mutation_p.V51A|SLC22A10_ENST00000525620.1_Intron	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	51					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CAGGAGGGGGACCCAGCAGCG	0.493																																																	0													123.0	122.0	123.0					11																	62911100		692	1591	2283	SO:0001583	missense	0				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.152T>C	11.37:g.62911100A>G	ENSP00000396586:p.Val51Ala			Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V51A	ENST00000417740.1	37	c.152		11	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548965	0.45383	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.35605	1.3;1.3	2.29	2.29	0.28610	.	0.475581	0.19204	U	0.120106	T	0.40719	0.1128	L	0.55743	1.74	0.80722	D	1	D	0.59357	0.985	P	0.53518	0.728	T	0.15809	-1.0424	10	0.31617	T	0.26	.	8.2441	0.31677	1.0:0.0:0.0:0.0	.	51	C9JC66	.	A	51	ENSP00000396586:V51A;ENSP00000321549:V51A	ENSP00000321549:V51A	V	-	2	0	SLC22A24	62667676	0.978000	0.34361	1.000000	0.80357	0.754000	0.42855	4.119000	0.57891	1.081000	0.41110	0.315000	0.21342	GTC	SLC22A24	-	NULL	ENSG00000197658		0.493	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1		0.00	71	0	A	NM_173586		62911100	-1			no_errors	ENST00000326192	ensembl	human	known	74_37	missense	5.71	65	4	SNP	0.950	G
SIPA1	6494	genome.wustl.edu	37	11	65417876	65417876	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr11:65417876G>C	ENST00000394224.3	+	15	3204	c.2908G>C	c.(2908-2910)Gag>Cag	p.E970Q	SIPA1_ENST00000527525.1_Missense_Mutation_p.E868Q|SIPA1_ENST00000534313.1_Missense_Mutation_p.E970Q|SIPA1_ENST00000394227.3_Missense_Mutation_p.E868Q|MIR4489_ENST00000578869.1_RNA	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	970					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTTCAGGCCAGAGCCTGGGAA	0.632																																																	0													67.0	72.0	70.0					11																	65417876		2201	4297	6498	SO:0001583	missense	0			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2908G>C	11.37:g.65417876G>C	ENSP00000377771:p.Glu970Gln		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.E970Q	ENST00000394224.3	37	c.2908	CCDS8108.1	11	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760580	0.49468	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.39	2.29	0.28610	.	0.415878	0.19389	U	0.115457	T	0.77491	0.4138	L	0.36672	1.1	0.21782	N	0.999544	B;D	0.58268	0.021;0.982	B;P	0.49999	0.01;0.628	T	0.66614	-0.5879	10	0.41790	T	0.15	-7.545	6.5144	0.22240	0.0:0.2026:0.5885:0.2089	.	868;970	F6RY50;Q96FS4	.;SIPA1_HUMAN	Q	970;868;970;868	ENSP00000436269:E970Q;ENSP00000433686:E868Q;ENSP00000377771:E970Q;ENSP00000377774:E868Q	ENSP00000377771:E970Q	E	+	1	0	SIPA1	65174452	0.976000	0.34144	0.957000	0.39632	0.829000	0.46940	1.303000	0.33470	0.808000	0.34231	0.313000	0.20887	GAG	SIPA1	-	NULL	ENSG00000213445		0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	-	0.00	94	0	G	NM_006747		65417876	+1	tier1	-	no_errors	ENST00000394224	ensembl	human	known	74_37	missense	21.74	72	20	SNP	0.778	C
SLC32A1	140679	genome.wustl.edu	37	20	37356902	37356902	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:37356902G>T	ENST00000217420.1	+	2	1461	c.1198G>T	c.(1198-1200)Gcc>Tcc	p.A400S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	400					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.A400T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCCATTCTTTGCCGCTGTCGA	0.627																																																	1	Substitution - Missense(1)	endometrium(1)											75.0	74.0	74.0					20																	37356902		2203	4300	6503	SO:0001583	missense	0			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1198G>T	20.37:g.37356902G>T	ENSP00000217420:p.Ala400Ser		Q8N489	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A400S	ENST00000217420.1	37	c.1198	CCDS13307.1	20	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605385	0.66445	.	.	ENSG00000101438	ENST00000217420	T	0.02395	4.31	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	L	0.47716	1.5	0.80722	D	1	P	0.42123	0.771	P	0.48334	0.574	T	0.22977	-1.0201	10	0.62326	D	0.03	-8.0083	14.9208	0.70835	0.0:0.0:1.0:0.0	.	400	Q9H598	VIAAT_HUMAN	S	400	ENSP00000217420:A400S	ENSP00000217420:A400S	A	+	1	0	SLC32A1	36790316	1.000000	0.71417	0.994000	0.49952	0.667000	0.39255	9.788000	0.99064	2.202000	0.70862	0.563000	0.77884	GCC	SLC32A1	-	pfam_AA_transpt_TM	ENSG00000101438		0.627	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1		0.00	58	0	G	NM_080552		37356902	+1			no_errors	ENST00000217420	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T
SLC4A5	57835	genome.wustl.edu	37	2	74531762	74531762	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:74531762T>A	ENST00000377634.4	-	7	524	c.125A>T	c.(124-126)cAa>cTa	p.Q42L	SLC4A5_ENST00000423644.1_Missense_Mutation_p.Q42L|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Q42L|SLC4A5_ENST00000394019.2_Missense_Mutation_p.Q42L|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000359484.4_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Q42L|SLC4A5_ENST00000377632.1_Missense_Mutation_p.Q42L					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGTTTTTCTTTGAGGGTAAGT	0.537																																																	0													82.0	81.0	81.0					2																	74531762		2203	4300	6503	SO:0001583	missense	0			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.125A>T	2.37:g.74531762T>A	ENSP00000366861:p.Gln42Leu			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.Q42L	ENST00000377634.4	37	c.125	CCDS1936.1	2	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986026	0.35036	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000423644;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000444570;ENST00000436454	T;T;T;T;T;T;T	0.76578	-1.03;-0.85;-0.47;-1.03;-0.85;-1.03;-0.18	4.8	1.14	0.20703	.	0.416621	0.21498	N	0.073571	T	0.66470	0.2792	L	0.53249	1.67	0.09310	N	0.999999	B;B;B;B	0.25904	0.137;0.039;0.02;0.009	B;B;B;B	0.25140	0.058;0.011;0.016;0.014	T	0.55309	-0.8161	10	0.40728	T	0.16	.	3.6784	0.08301	0.0:0.199:0.1932:0.6077	.	42;42;42;42	Q9BY07-4;E7EQT3;Q9BY07;Q9BY07-3	.;.;S4A5_HUMAN;.	L	42	ENSP00000377587:Q42L;ENSP00000251768:Q42L;ENSP00000395804:Q42L;ENSP00000350475:Q42L;ENSP00000366859:Q42L;ENSP00000366861:Q42L;ENSP00000405678:Q42L	ENSP00000251768:Q42L	Q	-	2	0	SLC4A5	74385270	0.253000	0.23982	0.788000	0.31933	0.700000	0.40528	0.380000	0.20602	0.399000	0.25367	0.377000	0.23210	CAA	SLC4A5	-	NULL	ENSG00000188687		0.537	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	-	0.00	122	0	T			74531762	-1	tier1	-	no_errors	ENST00000357822	ensembl	human	known	74_37	missense	34.68	81	43	SNP	0.229	A
SON	6651	genome.wustl.edu	37	21	34922690	34922690	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr21:34922690G>T	ENST00000356577.4	+	3	1628	c.1153G>T	c.(1153-1155)Ggg>Tgg	p.G385W	SON_ENST00000290239.6_Missense_Mutation_p.G385W|SON_ENST00000300278.4_Missense_Mutation_p.G385W|SON_ENST00000381679.4_Missense_Mutation_p.G385W|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	385					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGAGTTGCCGGGGCCACCTGC	0.642																																																	0													54.0	60.0	58.0					21																	34922690		2203	4300	6503	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1153G>T	21.37:g.34922690G>T	ENSP00000348984:p.Gly385Trp		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.G385W	ENST00000356577.4	37	c.1153	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358216	0.61403	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.18016	2.39;2.36;2.36;2.24	5.29	4.4	0.53042	.	0.000000	0.64402	D	0.000019	T	0.28499	0.0705	L	0.29908	0.895	0.33713	D	0.616041	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.40534	-0.9558	10	0.72032	D	0.01	.	11.674	0.51419	0.0:0.0:0.8229:0.1771	.	385;385;385	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	W	385	ENSP00000348984:G385W;ENSP00000290239:G385W;ENSP00000300278:G385W;ENSP00000371095:G385W	ENSP00000290239:G385W	G	+	1	0	SON	33844560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.568000	0.60857	1.348000	0.45733	0.561000	0.74099	GGG	SON	-	NULL	ENSG00000159140		0.642	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	-	0.00	102	0	G	NM_138927		34922690	+1	tier1	-	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	64.38	26	47	SNP	1.000	T
SOX7	83595	genome.wustl.edu	37	8	10583327	10583327	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr8:10583327G>T	ENST00000304501.1	-	2	1166	c.1088C>A	c.(1087-1089)aCg>aAg	p.T363K	SOX7_ENST00000553390.1_Missense_Mutation_p.T415K|SOX7_ENST00000554914.1_Missense_Mutation_p.T415K	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	363	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TGTGGGACCCGTTGGTGTCAC	0.607																																																	0													75.0	69.0	71.0					8																	10583327		2203	4300	6503	SO:0001583	missense	0			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.1088C>A	8.37:g.10583327G>T	ENSP00000301921:p.Thr363Lys		B4DKV0|Q53YD0	Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom	p.T415K	ENST00000304501.1	37	c.1244	CCDS5977.1	8	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.186963	0.01620	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.76186	-1.0;-1.0;-1.0	4.64	1.6	0.23607	.	0.351667	0.30565	U	0.009348	T	0.51568	0.1682	N	0.22421	0.69	0.09310	N	1	B;B	0.25609	0.13;0.027	B;B	0.28232	0.067;0.087	T	0.31613	-0.9937	10	0.07813	T	0.8	.	5.0868	0.14687	0.0825:0.2853:0.5012:0.131	.	415;363	B4DKV0;Q9BT81	.;SOX7_HUMAN	K	363;415;415	ENSP00000301921:T363K;ENSP00000452017:T415K;ENSP00000451145:T415K	ENSP00000346908:T415K	T	-	2	0	SOX7;CTD-2135J3.4	10620737	0.001000	0.12720	0.001000	0.08648	0.768000	0.43524	0.994000	0.29693	0.519000	0.28406	0.561000	0.74099	ACG	SOX7	-	pfam_Sox_C_TAD	ENSG00000171056		0.607	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000207131.1		0.00	87	0	G			10583327	-1			no_errors	ENST00000553390	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.000	T
SPATA18	132671	genome.wustl.edu	37	4	52926601	52926601	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr4:52926601A>G	ENST00000295213.4	+	2	478	c.104A>G	c.(103-105)cAa>cGa	p.Q35R	SPATA18_ENST00000419395.2_Missense_Mutation_p.Q35R|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	35					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ACGTGTGATCAAAATCTAAAC	0.498																																																	0													101.0	91.0	95.0					4																	52926601		2203	4300	6503	SO:0001583	missense	0			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.104A>G	4.37:g.52926601A>G	ENSP00000295213:p.Gln35Arg		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	NULL	p.Q35R	ENST00000295213.4	37	c.104	CCDS3489.1	4	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136879	0.56936	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.35605	1.3;1.31	5.08	3.86	0.44501	.	0.166448	0.53938	D	0.000043	T	0.42675	0.1213	M	0.71581	2.175	0.34798	D	0.736419	P;P;P	0.52316	0.557;0.557;0.952	B;B;P	0.48488	0.372;0.372;0.579	T	0.59461	-0.7450	10	0.72032	D	0.01	-5.0916	8.072	0.30695	0.8201:0.0:0.0:0.1799	.	35;35;35	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	R	35	ENSP00000295213:Q35R;ENSP00000415309:Q35R	ENSP00000295213:Q35R	Q	+	2	0	SPATA18	52621358	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.277000	0.51654	1.008000	0.39264	0.379000	0.24179	CAA	SPATA18	-	NULL	ENSG00000163071		0.498	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	HGNC	protein_coding	OTTHUMT00000250597.2	-	0.00	136	0	A	NM_145263		52926601	+1	tier1	-	no_errors	ENST00000295213	ensembl	human	known	74_37	missense	56.96	34	45	SNP	1.000	G
SPATA25	128497	genome.wustl.edu	37	20	44515296	44515296	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:44515296G>C	ENST00000372519.3	-	2	588	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	182					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGAAAGCTTGAGCGGCCCAG	0.637																																																	0													61.0	64.0	63.0					20																	44515296		2203	4300	6503	SO:0001583	missense	0			AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.544C>G	20.37:g.44515296G>C	ENSP00000361597:p.Gln182Glu			Missense_Mutation	SNP	NULL	p.Q182E	ENST00000372519.3	37	c.544	CCDS13383.1	20	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205071	0.79127	.	.	ENSG00000149634	ENST00000372519	T	0.52983	0.64	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000100	T	0.57242	0.2040	L	0.34521	1.04	0.41446	D	0.987958	D	0.59767	0.986	P	0.60541	0.876	T	0.59112	-0.7515	10	0.87932	D	0	-6.5401	18.4386	0.90656	0.0:0.0:1.0:0.0	.	182	Q9BR10	CT165_HUMAN	E	182	ENSP00000361597:Q182E	ENSP00000361597:Q182E	Q	-	1	0	C20orf165	43948703	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.676000	0.68131	2.894000	0.99253	0.655000	0.94253	CAA	SPATA25	-	NULL	ENSG00000149634		0.637	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA25	HGNC	protein_coding	OTTHUMT00000079541.1	-	0.00	71	0	G			44515296	-1	tier1	-	no_errors	ENST00000372519	ensembl	human	known	74_37	missense	44.87	43	35	SNP	1.000	C
SPATA31C1	441452	genome.wustl.edu	37	9	90534190	90534191	+	RNA	INS	-	-	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:90534190_90534191insC	ENST00000602681.1	+	0	936_937							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTCCCAGCGTCATCTTGTCTC	0.604																																																	0																																												0			AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534191_90534191dupC				RNA	INS	-	NULL	ENST00000602681.1	37	NULL		9																																																																																			SPATA31C1	-	-	ENSG00000230246		0.604	SPATA31C1-002	KNOWN	basic	processed_transcript	SPATA31C1	HGNC	pseudogene	OTTHUMT00000467313.1		0.00	17	0	-	NM_001145124		90534191	+1	tier1		no_errors	ENST00000602681	ensembl	human	known	74_37	rna	31.58	13	6	INS	0.012:0.016	C
SRPK3	26576	genome.wustl.edu	37	X	153047664	153047664	+	Splice_Site	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chrX:153047664G>A	ENST00000370101.3	+	5	521		c.e5+1		SRPK3_ENST00000370108.3_Splice_Site|SRPK3_ENST00000370100.1_Splice_Site|SRPK3_ENST00000489426.1_Splice_Site|SRPK3_ENST00000370104.1_Splice_Site|SRPK3_ENST00000393786.3_Splice_Site	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3						cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AATGGAGTCCGTATCCTTTGC	0.577													G|||	1	0.000264901	0.0008	0.0	3775	,	,		13478	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(167;766 3400 32156)												0													83.0	76.0	78.0					X																	153047664		2203	4300	6503	SO:0001630	splice_region_variant	0			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.475+1G>A	X.37:g.153047664G>A			Q13583|Q4F970|Q562F5|Q9UM62	Splice_Site	SNP	-	e5+1	ENST00000370101.3	37	c.475+1	CCDS35441.1	X	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850689	0.71719	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000430541;ENST00000370100	.	.	.	5.8	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.888	0.46978	0.1587:0.0:0.8413:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRPK3	152700858	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.328000	0.52052	0.606000	0.29965	-0.192000	0.12808	.	SRPK3	-	-	ENSG00000184343		0.577	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK3	HGNC	protein_coding	OTTHUMT00000354501.1		0.00	53	0	G	NM_014370	Intron	153047664	+1			no_errors	ENST00000370101	ensembl	human	known	74_37	splice_site	10.20	44	5	SNP	1.000	A
STAT6	6778	genome.wustl.edu	37	12	57490895	57490895	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:57490895delG	ENST00000300134.3	-	20	2506	c.2181delC	c.(2179-2181)cccfs	p.P727fs	STAT6_ENST00000543873.2_Frame_Shift_Del_p.P727fs|STAT6_ENST00000454075.3_Frame_Shift_Del_p.P727fs|STAT6_ENST00000556155.1_Frame_Shift_Del_p.P727fs|STAT6_ENST00000537215.2_Frame_Shift_Del_p.P617fs|STAT6_ENST00000538913.2_Frame_Shift_Del_p.P617fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	727					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCCCAGGCTGGGGGGCATCT	0.602																																																	0																																										SO:0001589	frameshift_variant	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2181delC	12.37:g.57490895delG	ENSP00000300134:p.Pro727fs		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Del	DEL	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.S728fs	ENST00000300134.3	37	c.2181	CCDS8931.1	12																																																																																			STAT6	-	NULL	ENSG00000166888		0.602	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3		0.00	34	0	G	NM_003153		57490895	-1	tier1		no_errors	ENST00000300134	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.002	-
SUN5	140732	genome.wustl.edu	37	20	31584143	31584143	+	Silent	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr20:31584143G>A	ENST00000356173.3	-	7	504	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	SUN5_ENST00000375523.3_Silent_p.L113L	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	138					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						AAGCTCTGCAGTGGACCATTT	0.438																																																	0													131.0	115.0	120.0					20																	31584143		2203	4300	6503	SO:0001819	synonymous_variant	0			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.412C>T	20.37:g.31584143G>A			A6NJ82|Q5T9R0	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.L138	ENST00000356173.3	37	c.412	CCDS13209.1	20																																																																																			SUN5	-	NULL	ENSG00000167098		0.438	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	-	0.00	93	0	G	NM_080675		31584143	-1	tier1	-	no_errors	ENST00000356173	ensembl	human	known	74_37	silent	45.95	60	51	SNP	0.999	A
SYT1	6857	genome.wustl.edu	37	12	79689885	79689885	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:79689885G>T	ENST00000261205.4	+	7	1168	c.511G>T	c.(511-513)Gcc>Tcc	p.A171S	SYT1_ENST00000552744.1_Missense_Mutation_p.A171S|SYT1_ENST00000393240.3_Missense_Mutation_p.A171S|SYT1_ENST00000457153.2_Missense_Mutation_p.A168S	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	171	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.A171T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CGAACTGCCCGCCTTGGACAT	0.423																																																	1	Substitution - Missense(1)	lung(1)											96.0	92.0	93.0					12																	79689885		2203	4300	6503	SO:0001583	missense	0				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.511G>T	12.37:g.79689885G>T	ENSP00000261205:p.Ala171Ser		Q6AI31	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.A171S	ENST00000261205.4	37	c.511	CCDS9017.1	12	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457084	0.84317	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;0.96;2.12	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.045242	0.85682	D	0.000000	T	0.69744	0.3145	L	0.46947	1.48	0.80722	D	1	B;B	0.30104	0.268;0.268	B;B	0.40256	0.324;0.324	T	0.68911	-0.5284	10	0.59425	D	0.04	.	19.8046	0.96525	0.0:0.0:1.0:0.0	.	171;171	Q6AI31;P21579	.;SYT1_HUMAN	S	171;171;168;171;168;171	ENSP00000376932:A171S;ENSP00000261205:A171S;ENSP00000391056:A168S;ENSP00000447575:A171S;ENSP00000448861:A168S;ENSP00000401559:A171S	ENSP00000261205:A171S	A	+	1	0	SYT1	78214016	1.000000	0.71417	0.991000	0.47740	0.955000	0.61496	7.903000	0.87398	2.754000	0.94517	0.650000	0.86243	GCC	SYT1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000067715		0.423	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	HGNC	protein_coding	OTTHUMT00000259415.1		0.00	60	0	G	NM_005639		79689885	+1			no_errors	ENST00000261205	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
TBXAS1	6916	genome.wustl.edu	37	7	139653225	139653225	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:139653225C>T	ENST00000336425.5	+	10	898	c.509C>T	c.(508-510)gCg>gTg	p.A170V	TBXAS1_ENST00000414508.2_Missense_Mutation_p.A171V|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A171V|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A170V|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A103V|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A217V|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A170V|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A216V|TBXAS1_ENST00000263552.6_Missense_Mutation_p.A171V			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	170					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AAACGCTATGCGGAATCTGGG	0.458																																																	0													124.0	112.0	116.0					7																	139653225		2203	4300	6503	SO:0001583	missense	0			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.509C>T	7.37:g.139653225C>T	ENSP00000338087:p.Ala170Val		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.A217V	ENST00000336425.5	37	c.650		7	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208204	0.58343	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.43	4.55	0.56014	.	0.051405	0.85682	D	0.000000	T	0.73009	0.3532	M	0.64997	1.995	0.80722	D	1	P;P;B;D;B;P;P	0.63880	0.927;0.716;0.197;0.993;0.226;0.907;0.907	P;B;B;P;B;B;B	0.53912	0.647;0.408;0.137;0.737;0.185;0.305;0.305	T	0.71404	-0.4603	10	0.26408	T	0.33	.	15.9924	0.80217	0.0:0.865:0.135:0.0	.	151;217;122;103;171;171;170	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	V	103;171;170;217;171;171;170;216;170	ENSP00000388736:A103V;ENSP00000263552:A171V;ENSP00000338087:A170V;ENSP00000389414:A217V;ENSP00000392361:A171V;ENSP00000392702:A171V;ENSP00000402536:A170V;ENSP00000411274:A216V;ENSP00000411326:A170V	ENSP00000263552:A171V	A	+	2	0	TBXAS1	139299694	1.000000	0.71417	0.051000	0.19133	0.517000	0.34286	4.846000	0.62860	1.291000	0.44653	-0.150000	0.13652	GCG	TBXAS1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000059377		0.458	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	TBXAS1	HGNC	protein_coding	OTTHUMT00000348373.1		0.00	64	0	C			139653225	+1			no_errors	ENST00000416849	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.999	T
TECTB	6975	genome.wustl.edu	37	10	114063043	114063043	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr10:114063043G>A	ENST00000369422.3	+	10	963	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	321						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		ACCTCATCATGATGTTGGGGA	0.498																																																	0													244.0	205.0	218.0					10																	114063043		2203	4300	6503	SO:0001583	missense	0			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.963G>A	10.37:g.114063043G>A	ENSP00000358430:p.Met321Ile		Q5VW53	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.M321I	ENST00000369422.3	37	c.963	CCDS7571.1	10	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269609	0.23221	.	.	ENSG00000119913	ENST00000369422	T	0.72835	-0.69	5.78	4.82	0.62117	.	1.064660	0.07185	N	0.854679	T	0.54271	0.1848	N	0.08118	0	0.21499	N	0.999663	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	10	0.44086	T	0.13	.	12.1365	0.53974	0.0:0.2483:0.7517:0.0	.	321	Q96PL2	TECTB_HUMAN	I	321	ENSP00000358430:M321I	ENSP00000358430:M321I	M	+	3	0	TECTB	114053033	1.000000	0.71417	0.977000	0.42913	0.334000	0.28698	2.300000	0.43620	2.894000	0.99253	0.655000	0.94253	ATG	TECTB	-	NULL	ENSG00000119913		0.498	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECTB	HGNC	protein_coding	OTTHUMT00000050381.1	-	0.00	149	0	G	NM_058222		114063043	+1	tier1	-	no_errors	ENST00000369422	ensembl	human	known	74_37	missense	54.84	42	51	SNP	0.988	A
TMEM182	130827	genome.wustl.edu	37	2	103414392	103414392	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:103414392C>G	ENST00000412401.2	+	4	607	c.402C>G	c.(400-402)atC>atG	p.I134M	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Missense_Mutation_p.I91M|TMEM182_ENST00000409528.1_Missense_Mutation_p.I38M	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	134						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GCTTTTTGATCATCTGTGCAG	0.517																																																	0													103.0	103.0	103.0					2																	103414392		2203	4300	6503	SO:0001583	missense	0			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.402C>G	2.37:g.103414392C>G	ENSP00000394178:p.Ile134Met		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	NULL	p.I134M	ENST00000412401.2	37	c.402	CCDS2064.1	2	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261726	0.59431	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.70164	-0.46;-0.46;-0.46	5.23	4.35	0.52113	.	0.065038	0.64402	D	0.000001	T	0.76681	0.4021	L	0.59436	1.845	0.53005	D	0.999969	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.77925	-0.2405	10	0.72032	D	0.01	-24.3541	10.2313	0.43256	0.0:0.8476:0.0:0.1524	.	134;91	Q6ZP80;B8ZZ71	TM182_HUMAN;.	M	38;91;134	ENSP00000387258:I38M;ENSP00000387184:I91M;ENSP00000394178:I134M	ENSP00000387184:I91M	I	+	3	3	TMEM182	102780824	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	2.825000	0.48096	1.336000	0.45506	0.655000	0.94253	ATC	TMEM182	-	NULL	ENSG00000170417		0.517	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM182	HGNC	protein_coding	OTTHUMT00000253293.1	-	0.00	56	0	C	NM_144632		103414392	+1	tier1	-	no_errors	ENST00000412401	ensembl	human	known	74_37	missense	39.47	46	30	SNP	1.000	G
TMEM52	339456	genome.wustl.edu	37	1	1849758	1849758	+	Silent	SNP	G	G	T	rs553521815		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:1849758G>T	ENST00000310991.3	-	4	290	c.283C>A	c.(283-285)Cgg>Agg	p.R95R	TMEM52_ENST00000378602.3_Silent_p.R80R	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	95						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGGGCTGCCGTGCTGGTGGC	0.637																																																	0													47.0	49.0	49.0					1																	1849758		2203	4297	6500	SO:0001819	synonymous_variant	0			AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.283C>A	1.37:g.1849758G>T			Q4VXS6|Q6UX25	Silent	SNP	NULL	p.R95	ENST00000310991.3	37	c.283	CCDS35.1	1																																																																																			TMEM52	-	NULL	ENSG00000178821		0.637	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM52	HGNC	protein_coding	OTTHUMT00000002781.1		0.00	64	0	G	NM_178545		1849758	-1			no_errors	ENST00000310991	ensembl	human	known	74_37	silent	7.32	38	3	SNP	0.000	T
TP53	7157	genome.wustl.edu	37	17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr17:7578266T>A	ENST00000269305.4	-	6	772	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000420246.2_Missense_Mutation_p.I195F	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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)	TCCACTCGGATAAGATGCTGA	0.557		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"""	60	Substitution - Missense(23)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - Frameshift(4)|Complex - frameshift(1)	upper_aerodigestive_tract(8)|breast(8)|large_intestine(6)|biliary_tract(5)|skin(5)|lung(5)|oesophagus(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|urinary_tract(2)|liver(2)|stomach(1)|soft_tissue(1)											99.0	89.0	92.0					17																	7578266		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.583A>T	17.37:g.7578266T>A	ENSP00000269305:p.Ile195Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I195F	ENST00000269305.4	37	c.583	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493726	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99802	0.9915	M	0.85099	2.735	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.998;0.997;0.998;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.989;0.955;0.972;0.988;0.99;0.992	D	0.96806	0.9593	10	0.87932	D	0	-18.4587	13.709	0.62656	0.0:0.0:0.0:1.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195F;ENSP00000352610:I195F;ENSP00000269305:I195F;ENSP00000398846:I195F;ENSP00000391127:I195F;ENSP00000391478:I195F;ENSP00000425104:I63F;ENSP00000423862:I102F	ENSP00000269305:I195F	I	-	1	0	TP53	7518991	1.000000	0.71417	0.895000	0.35142	0.030000	0.12068	6.159000	0.71856	2.183000	0.69458	0.533000	0.62120	ATC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	122	0	T	NM_000546		7578266	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	84.00	20	105	SNP	0.999	A
TRIP11	9321	genome.wustl.edu	37	14	92470509	92470509	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:92470509T>A	ENST00000267622.4	-	11	4184	c.3811A>T	c.(3811-3813)Atc>Ttc	p.I1271F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1271					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TAACTTTGGATCAGGCCAGTA	0.423			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													68.0	65.0	66.0					14																	92470509		2202	4299	6501	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3811A>T	14.37:g.92470509T>A	ENSP00000267622:p.Ile1271Phe		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.I1271F	ENST00000267622.4	37	c.3811	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.57|15.57	2.873171|2.873171	0.51695|0.51695	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.07021	.|3.23	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16257|0.16257	0.0391|0.0391	L|L	0.32530|0.32530	0.975|0.975	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D	.|0.89917	.|1.0;0.991	.|D;P	.|0.77004	.|0.989;0.785	T|T	0.09400|0.09400	-1.0676|-1.0676	5|10	.|0.07990	.|T	.|0.79	.|.	15.1282|15.1282	0.72500|0.72500	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1007;1271	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	V|F	986|1271;1007	.|ENSP00000267622:I1271F	.|ENSP00000267622:I1271F	D|I	-|-	2|1	0|0	TRIP11|TRIP11	91540262|91540262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.618000|0.618000	0.37518|0.37518	5.021000|5.021000	0.64072|0.64072	1.968000|1.968000	0.57251|0.57251	0.374000|0.374000	0.22700|0.22700	GAT|ATC	TRIP11	-	NULL	ENSG00000100815		0.423	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	-	0.00	78	0	T			92470509	-1	tier1	-	no_errors	ENST00000267622	ensembl	human	known	74_37	missense	32.43	50	24	SNP	1.000	A
TRMT10A	93587	genome.wustl.edu	37	4	100472105	100472105	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr4:100472105C>T	ENST00000273962.3	-	7	1000	c.688G>A	c.(688-690)Gca>Aca	p.A230T	TRMT10A_ENST00000394877.3_Missense_Mutation_p.A230T|TRMT10A_ENST00000394876.2_Missense_Mutation_p.A230T	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	230	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.A230S(1)									GGGAGCTGTGCATGATTGATT	0.343																																																	1	Substitution - Missense(1)	lung(1)											99.0	93.0	95.0					4																	100472105		2203	4300	6503	SO:0001583	missense	0			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.688G>A	4.37:g.100472105C>T	ENSP00000273962:p.Ala230Thr		B2R8X7|Q9Y2T9	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.A230T	ENST00000273962.3	37	c.688	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.613192	0.96637	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.26957	1.7;1.7;1.7	5.86	5.86	0.93980	.	0.045845	0.85682	D	0.000000	T	0.66616	0.2807	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76099	-0.3083	10	0.72032	D	0.01	-27.8938	20.1823	0.98208	0.0:1.0:0.0:0.0	.	230	Q8TBZ6	RG9D2_HUMAN	T	230	ENSP00000378343:A230T;ENSP00000273962:A230T;ENSP00000378342:A230T	ENSP00000273962:A230T	A	-	1	0	RG9MTD2	100691128	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.062000	0.76706	2.771000	0.95319	0.650000	0.86243	GCA	TRMT10A	-	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	ENSG00000145331		0.343	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	HGNC	protein_coding	OTTHUMT00000253668.1	-	0.00	98	0	C	NM_152292		100472105	-1	tier1	-	no_errors	ENST00000273962	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
TWISTNB	221830	genome.wustl.edu	37	7	19748587	19748587	+	Missense_Mutation	SNP	G	G	C	rs146649877	byFrequency	TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr7:19748587G>C	ENST00000222567.5	-	1	123	c.53C>G	c.(52-54)tCt>tGt	p.S18C		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	18					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CCCTACCAGAGACCCATCAGA	0.647											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													24.0	25.0	25.0					7																	19748587		2192	4289	6481	SO:0001583	missense	0			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.53C>G	7.37:g.19748587G>C	ENSP00000222567:p.Ser18Cys	735	A0PJ45|B7Z724	Missense_Mutation	SNP	pfam_RNA_pol_Rpb7_N	p.S18C	ENST00000222567.5	37	c.53	CCDS34606.1	7	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864894	0.32977	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.3	-1.61	0.08399	.	0.558034	0.17961	N	0.156173	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11203	-1.0597	9	0.66056	D	0.02	2.8252	3.0586	0.06193	0.1627:0.2488:0.4617:0.1268	.	18	Q3B726	RPA43_HUMAN	C	18	.	ENSP00000222567:S18C	S	-	2	0	TWISTNB	19715112	0.002000	0.14202	0.000000	0.03702	0.078000	0.17371	0.419000	0.21247	-0.102000	0.12197	0.655000	0.94253	TCT	TWISTNB	-	NULL	ENSG00000105849		0.647	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWISTNB	HGNC	protein_coding	OTTHUMT00000326463.1	-	0.00	36	0	G			19748587	-1	tier1	-	no_errors	ENST00000222567	ensembl	human	known	74_37	missense	35.14	24	13	SNP	0.001	C
UNC79	57578	genome.wustl.edu	37	14	94004395	94004395	+	Missense_Mutation	SNP	C	C	A	rs377687253		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr14:94004395C>A	ENST00000393151.2	+	12	1183	c.1183C>A	c.(1183-1185)Cgt>Agt	p.R395S	UNC79_ENST00000553484.1_Missense_Mutation_p.R395S|UNC79_ENST00000256339.4_Missense_Mutation_p.R218S|UNC79_ENST00000555664.1_Missense_Mutation_p.R395S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	395					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R218C(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGCTGTGGTCGTCACGGAAA	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											79.0	74.0	76.0					14																	94004395		2203	4300	6503	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1183C>A	14.37:g.94004395C>A	ENSP00000376858:p.Arg395Ser		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.R395S	ENST00000393151.2	37	c.1183		14	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024422	0.75390	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.69078	0.997;0.992	D;D	0.75484	0.986;0.979	T	0.00747	-1.1583	10	0.27785	T	0.31	-17.1717	19.9698	0.97280	0.0:1.0:0.0:0.0	.	395;395	C9JQL1;Q9P2D8	.;UNC79_HUMAN	S	218;395;395;395;395	ENSP00000256339:R218S;ENSP00000450868:R395S;ENSP00000451360:R395S;ENSP00000376858:R395S	ENSP00000256339:R218S	R	+	1	0	KIAA1409	93074148	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.559000	0.82265	2.786000	0.95864	0.561000	0.74099	CGT	UNC79	-	NULL	ENSG00000133958		0.507	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	-	0.00	51	0	C	XM_028395		94004395	+1	tier1	-	no_errors	ENST00000553484	ensembl	human	known	74_37	missense	17.74	51	11	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	215987082	215987082	+	Silent	SNP	T	T	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:215987082T>C	ENST00000307340.3	-	49	10121	c.9735A>G	c.(9733-9735)ctA>ctG	p.L3245L	USH2A_ENST00000366943.2_Silent_p.L3245L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3245					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTCACCTGGTAGAATTCTAG	0.443										HNSCC(13;0.011)																																							0													112.0	107.0	109.0					1																	215987082		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9735A>G	1.37:g.215987082T>C			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L3245	ENST00000307340.3	37	c.9735	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000042781		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	155	0	T	NM_007123		215987082	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	31.40	118	54	SNP	0.008	C
USHBP1	83878	genome.wustl.edu	37	19	17373483	17373483	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:17373483C>A	ENST00000252597.3	-	4	693	c.520G>T	c.(520-522)Gct>Tct	p.A174S	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.A110S	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCAGGCGAGCTGCCTCTCGC	0.672																																																	0													44.0	43.0	44.0					19																	17373483		2203	4299	6502	SO:0001583	missense	0			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.520G>T	19.37:g.17373483C>A	ENSP00000252597:p.Ala174Ser			Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain	p.A174S	ENST00000252597.3	37	c.520	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617902	0.46736	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.23147	1.93;1.92	3.96	0.0271	0.14153	.	0.240202	0.29028	N	0.013370	T	0.15522	0.0374	L	0.36672	1.1	0.09310	N	1	P;B;P	0.43094	0.799;0.192;0.799	B;B;B	0.37198	0.243;0.058;0.243	T	0.14090	-1.0485	10	0.49607	T	0.09	-5.9697	7.3917	0.26913	0.1725:0.4896:0.3379:0.0	.	110;174;174	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	S	174;110;174	ENSP00000252597:A174S;ENSP00000407902:A110S	ENSP00000252597:A174S	A	-	1	0	USHBP1	17234483	0.014000	0.17966	0.006000	0.13384	0.020000	0.10135	0.372000	0.20467	0.252000	0.21531	-0.499000	0.04595	GCT	USHBP1	-	NULL	ENSG00000130307		0.672	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1	-	0.00	90	0	C	NM_031941		17373483	-1	tier1	-	no_errors	ENST00000252597	ensembl	human	known	74_37	missense	12.38	92	13	SNP	0.000	A
UTRN	7402	genome.wustl.edu	37	6	144844281	144844281	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr6:144844281G>A	ENST00000367545.3	+	40	5863	c.5863G>A	c.(5863-5865)Gca>Aca	p.A1955T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1955					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCAGCTGAATGCAAAATGGGA	0.383																																																	0													92.0	87.0	89.0					6																	144844281		2203	4300	6503	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5863G>A	6.37:g.144844281G>A	ENSP00000356515:p.Ala1955Thr		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.A1955T	ENST00000367545.3	37	c.5863	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110212	0.56398	.	.	ENSG00000152818	ENST00000367545	T	0.34667	1.35	5.65	4.76	0.60689	.	0.247257	0.28343	N	0.015687	T	0.19287	0.0463	M	0.63428	1.95	0.80722	D	1	B	0.30634	0.288	B	0.29524	0.103	T	0.07290	-1.0780	10	0.11794	T	0.64	.	15.8365	0.78801	0.0:0.0:0.8631:0.1368	.	1955	P46939	UTRO_HUMAN	T	1955	ENSP00000356515:A1955T	ENSP00000356515:A1955T	A	+	1	0	UTRN	144885974	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.265000	0.65519	1.342000	0.45619	0.591000	0.81541	GCA	UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0.00	54	0	G			144844281	+1	tier1	-	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A
VPS13D	55187	genome.wustl.edu	37	1	12569367	12569367	+	3'UTR	SNP	G	G	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:12569367G>T	ENST00000358136.3	+	0	13586				SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000356315.4_3'UTR|VPS13D_ENST00000543710.1_3'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_3'UTR|VPS13D_ENST00000471923.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTGTATTTTGTTAACATGTA	0.274																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.*289G>T	1.37:g.12569367G>T				RNA	SNP	-	NULL	ENST00000358136.3	37	NULL	CCDS30588.1	1																																																																																			VPS13D	-	-	ENSG00000048707		0.274	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0.00	127	0	G	NM_015378		12569367	+1	tier1	-	no_errors	ENST00000496628	ensembl	human	known	74_37	rna	6.10	76	5	SNP	1.000	T
VANGL2	57216	genome.wustl.edu	37	1	160389226	160389226	+	Silent	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:160389226G>A	ENST00000368061.2	+	4	1101	c.627G>A	c.(625-627)gaG>gaA	p.E209E		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	209					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCTCGGGAGCGCAGCTACC	0.632																																																	0													131.0	116.0	121.0					1																	160389226		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.627G>A	1.37:g.160389226G>A			D3DVE9|Q5T212	Silent	SNP	pfam_Strabismus,pirsf_Strabismus	p.E209	ENST00000368061.2	37	c.627	CCDS30915.1	1																																																																																			VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.632	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	-	0.00	38	0	G	NM_020335		160389226	+1	tier1	-	no_errors	ENST00000368061	ensembl	human	known	74_37	silent	27.12	43	16	SNP	0.995	A
WDR81	124997	genome.wustl.edu	37	17	1631342	1631343	+	Missense_Mutation	DNP	AG	AG	CT	rs577690948|rs200758098|rs35048651	byFrequency	TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr17:1631342_1631343AG>CT	ENST00000409644.1	+	1	3089_3090	c.3089_3090AG>CT	c.(3088-3090)gAG>gCT	p.E1030A	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_5'UTR	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1030					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)		GGGGCTGCTGAGGAGGAGGAGA	0.693																																																	0																																										SO:0001583	missense	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	Exception_encountered	17.37:g.1631342_1631343delinsCT	ENSP00000386609:p.Glu1030Ala		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1030A|p.E1030D	ENST00000409644.1	37	c.3089|c.3090	CCDS54062.1	17																																																																																			WDR81	-	NULL	ENSG00000167716		0.693	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2		0.00	31|32	0	A|G	NM_152348		1631342|1631343	+1			no_errors	ENST00000409644	ensembl	human	known	74_37	missense	26.67|31.25	11	4|5	SNP	1.000	C|T
YOD1	55432	genome.wustl.edu	37	1	207222508	207222510	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr1:207222508_207222510delCTG	ENST00000315927.4	-	2	948_950	c.902_904delCAG	c.(901-906)gcagat>gat	p.A301del	PFKFB2_ENST00000411990.2_5'Flank|YOD1_ENST00000367084.1_In_Frame_Del_p.A257del|YOD1_ENST00000391927.1_In_Frame_Del_p.A257del	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	301					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTAGCTTCATCTGCTAATTCCAG	0.433																																																	0																																										SO:0001651	inframe_deletion	0				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.902_904delCAG	1.37:g.207222508_207222510delCTG	ENSP00000326813:p.Ala301del		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	In_Frame_Del	DEL	pfam_OTU,pfscan_OTU	p.A301in_frame_del	ENST00000315927.4	37	c.904_902	CCDS31002.1	1																																																																																			YOD1	-	NULL	ENSG00000180667		0.433	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	YOD1	HGNC	protein_coding	OTTHUMT00000087837.1		0.00	53	0	CTG	NM_018566		207222510	-1	tier1		no_errors	ENST00000315927	ensembl	human	known	74_37	in_frame_del	49.12	29	28	DEL	1.000:0.991:1.000	-
ZAP70	7535	genome.wustl.edu	37	2	98340795	98340795	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:98340795G>A	ENST00000264972.5	+	3	511	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	99	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGCAACCTGCGCAAGCCGTGC	0.692																																																	0													8.0	9.0	8.0					2																	98340795		2103	4147	6250	SO:0001583	missense	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.296G>A	2.37:g.98340795G>A	ENSP00000264972:p.Arg99His		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R99H	ENST00000264972.5	37	c.296	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821474	0.71028	.	.	ENSG00000115085	ENST00000264972	T	0.26957	1.7	4.9	4.01	0.46588	SH2 motif (2);	0.000000	0.47852	D	0.000209	T	0.34337	0.0894	M	0.87682	2.9	0.80722	D	1	P;D	0.59767	0.951;0.986	B;B	0.42319	0.369;0.383	T	0.43702	-0.9375	10	0.25106	T	0.35	.	13.4707	0.61281	0.0:0.1581:0.8419:0.0	.	99;99	B4E0E2;P43403	.;ZAP70_HUMAN	H	99	ENSP00000264972:R99H	ENSP00000264972:R99H	R	+	2	0	ZAP70	97707227	1.000000	0.71417	0.997000	0.53966	0.580000	0.36256	4.529000	0.60588	1.193000	0.43086	0.467000	0.42956	CGC	ZAP70	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2	ENSG00000115085		0.692	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1		0.00	16	0	G			98340795	+1			no_errors	ENST00000264972	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	A
ZFC3H1	196441	genome.wustl.edu	37	12	72057336	72057336	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr12:72057336C>T	ENST00000378743.3	-	1	413	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.E19K|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.E19K|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	19					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTCCCCTTCTTCCTTCGGC	0.632											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													87.0	101.0	97.0					12																	72057336		2048	4202	6250	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.55G>A	12.37:g.72057336C>T	ENSP00000368017:p.Glu19Lys	1134	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.E19K	ENST00000378743.3	37	c.55	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322897	0.81580	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.42900	0.96	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000007	T	0.44052	0.1275	N	0.19112	0.55	0.80722	D	1	D;D;P	0.56035	0.974;0.974;0.598	P;P;B	0.54499	0.754;0.754;0.19	T	0.47058	-0.9146	10	0.87932	D	0	.	16.9783	0.86320	0.0:1.0:0.0:0.0	.	19;19;19	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	K	19	ENSP00000368017:E19K	ENSP00000368017:E19K	E	-	1	0	ZFC3H1	70343603	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.300000	0.65721	2.678000	0.91216	0.563000	0.77884	GAA	ZFC3H1	-	NULL	ENSG00000133858		0.632	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	-	0.00	55	0	C	NM_144982		72057336	-1	tier1	-	no_errors	ENST00000378743	ensembl	human	known	74_37	missense	57.14	18	24	SNP	1.000	T
ZFR	51663	genome.wustl.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																																	1	Substitution - coding silent(1)	endometrium(1)						A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T			B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.A294	ENST00000265069.8	37	c.882	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC	ZFR	-	NULL	ENSG00000056097		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1		0.00	31	0	A			32407029	-1			no_errors	ENST00000265069	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.601	T
ZNF385B	151126	genome.wustl.edu	37	2	180409561	180409561	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr2:180409561A>T	ENST00000410066.1	-	4	992	c.389T>A	c.(388-390)tTt>tAt	p.F130Y	ZNF385B_ENST00000336917.5_Missense_Mutation_p.F28Y|ZNF385B_ENST00000409343.1_Missense_Mutation_p.F54Y|ZNF385B_ENST00000409692.1_Missense_Mutation_p.F28Y|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	130	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CACTGTGTTAAAATTTGGAAA	0.388																																					Colon(155;204 2491 32774 51842)												0													127.0	133.0	131.0					2																	180409561		2203	4300	6503	SO:0001583	missense	0			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.389T>A	2.37:g.180409561A>T	ENSP00000386845:p.Phe130Tyr		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.F130Y	ENST00000410066.1	37	c.389	CCDS33339.1	2	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211025	0.79240	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304;ENST00000439340	T;T;T;T;T;T	0.58358	0.98;0.98;0.98;0.98;0.98;0.34	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	L	0.58583	1.82	0.54753	D	0.999988	D;D	0.71674	0.993;0.998	D;D	0.78314	0.971;0.991	T	0.66693	-0.5859	10	0.36615	T	0.2	-29.0313	16.4608	0.84044	1.0:0.0:0.0:0.0	.	130;54	Q569K4;Q569K4-2	Z385B_HUMAN;.	Y	130;28;54;28;28;48	ENSP00000386845:F130Y;ENSP00000338225:F28Y;ENSP00000386379:F54Y;ENSP00000386507:F28Y;ENSP00000394038:F28Y;ENSP00000399198:F48Y	ENSP00000338225:F28Y	F	-	2	0	ZNF385B	180117806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.288000	0.76882	0.533000	0.62120	TTT	ZNF385B	-	NULL	ENSG00000144331		0.388	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	HGNC	protein_coding	OTTHUMT00000335972.1	-	0.00	77	0	A	NM_152520		180409561	-1	tier1	-	no_errors	ENST00000410066	ensembl	human	known	74_37	missense	25.35	53	18	SNP	1.000	T
ZNF618	114991	genome.wustl.edu	37	9	116811401	116811401	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr9:116811401G>A	ENST00000374126.5	+	15	1918	c.1819G>A	c.(1819-1821)Gtg>Atg	p.V607M	ZNF618_ENST00000288466.7_Missense_Mutation_p.V514M|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	607					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(4)|lung(10)|urinary_tract(1)	16						GTCGGAGTTCGTGATGTCGGA	0.592																																																	0													106.0	106.0	106.0					9																	116811401		2190	4279	6469	SO:0001583	missense	0			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1819G>A	9.37:g.116811401G>A	ENSP00000363241:p.Val607Met		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V607M	ENST00000374126.5	37	c.1819		9	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440537	0.63067	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21543	2.0;2.0	5.14	5.14	0.70334	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.987;0.997;0.998	T	0.52305	-0.8593	9	0.62326	D	0.03	-18.3616	17.9534	0.89061	0.0:0.0:1.0:0.0	.	574;607;514	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	M	607;514	ENSP00000363241:V607M;ENSP00000288466:V514M	ENSP00000288466:V514M	V	+	1	0	ZNF618	115851222	1.000000	0.71417	0.996000	0.52242	0.638000	0.38207	9.132000	0.94455	2.550000	0.86006	0.462000	0.41574	GTG	ZNF618	-	superfamily_RNaseH-like_dom	ENSG00000157657		0.592	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	-	0.00	20	0	G	XM_054983		116811401	+1	tier1	-	no_errors	ENST00000374126	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	A
ZNF66	7617	genome.wustl.edu	37	19	20989009	20989009	+	Silent	SNP	T	T	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:20989009T>C	ENST00000344519.8	+	4	626	c.603T>C	c.(601-603)taT>taC	p.Y201Y	ZNF66_ENST00000425625.1_Silent_p.Y247Y|AC010329.1_ENST00000582722.1_RNA			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										agAAACCCTATAAATGTATAG	0.388																																																	0																																										SO:0001819	synonymous_variant	0			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.603T>C	19.37:g.20989009T>C			I3L4P5|Q15939	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.Y201	ENST00000344519.8	37	c.603		19																																																																																			ZNF66	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160229		0.388	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ZNF66	HGNC	protein_coding	OTTHUMT00000395955.2	-	0.00	122	0	T	NG_023377		20989009	+1	tier1	-	no_errors	ENST00000344519	ensembl	human	known	74_37	silent	5.22	109	6	SNP	0.022	C
ZNF66	7617	genome.wustl.edu	37	19	20989248	20989248	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:20989248G>C	ENST00000344519.8	+	4	865	c.842G>C	c.(841-843)gGa>gCa	p.G281A	ZNF66_ENST00000425625.1_Missense_Mutation_p.G327A|AC010329.1_ENST00000582722.1_RNA			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ATTCATACTGGAGAGAAACCC	0.373																																																	0																																										SO:0001583	missense	0			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.842G>C	19.37:g.20989248G>C	ENSP00000461425:p.Gly281Ala		I3L4P5|Q15939	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.G281A	ENST00000344519.8	37	c.842		19																																																																																			ZNF66	-	pfscan_Znf_C2H2	ENSG00000160229		0.373	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ZNF66	HGNC	protein_coding	OTTHUMT00000395955.2	-	0.00	84	0	G	NG_023377		20989248	+1	tier1	-	no_errors	ENST00000344519	ensembl	human	known	74_37	missense	30.43	64	28	SNP	1.000	C
ZNF785	146540	genome.wustl.edu	37	16	30594220	30594220	+	Silent	SNP	G	G	A			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr16:30594220G>A	ENST00000395216.2	-	3	1038	c.879C>T	c.(877-879)ttC>ttT	p.F293F	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Silent_p.F278F|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	293					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)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AGGTGTAGGCGAAACGGAGGC	0.632																																																	0													48.0	51.0	50.0					16																	30594220		2197	4300	6497	SO:0001819	synonymous_variant	0			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.879C>T	16.37:g.30594220G>A			O75701|Q8IW91|Q8WV14|Q96MN0	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.F293	ENST00000395216.2	37	c.879	CCDS10685.1	16																																																																																			ZNF785	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197162		0.632	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF785	HGNC	protein_coding	OTTHUMT00000255529.2	-	0.00	164	0	G	NM_152458		30594220	-1	tier1	-	no_errors	ENST00000395216	ensembl	human	known	74_37	silent	8.38	153	14	SNP	0.305	A
ZNF99	7652	genome.wustl.edu	37	19	22942112	22942112	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A7HW-01A-22D-A351-09	TCGA-LN-A7HW-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	631fa9c2-1da3-4b45-9c05-e05984c0f207	df052aa8-03bc-4880-935e-147aa04bae2f	g.chr19:22942112A>T	ENST00000596209.1	-	4	689	c.599T>A	c.(598-600)aTc>aAc	p.I200N	ZNF99_ENST00000397104.3_Intron	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTAGATATTCTCTCT	0.294																																																	0																																										SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.599T>A	19.37:g.22942112A>T	ENSP00000472969:p.Ile200Asn		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I200N	ENST00000596209.1	37	c.599	CCDS59369.1	19																																																																																			ZNF99	-	pfscan_Znf_C2H2	ENSG00000213973		0.294	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0.00	86	0	A	XM_065124		22942112	-1	tier1	-	no_errors	ENST00000596209	ensembl	human	novel	74_37	missense	41.33	44	31	SNP	0.000	T
