#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AKAP12	9590	genome.wustl.edu	37	6	151673850	151673850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr6:151673850delG	ENST00000253332.1	+	3	4513	c.4324delG	c.(4324-4326)gaafs	p.E1442fs	AKAP12_ENST00000354675.6_Frame_Shift_Del_p.E1344fs|AKAP12_ENST00000359755.5_Frame_Shift_Del_p.E1337fs|AKAP12_ENST00000402676.2_Frame_Shift_Del_p.E1442fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1442					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAAACAGGTGAAACGTTGGA	0.463																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0													91.0	94.0	93.0					6																	151673850		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4324delG	6.37:g.151673850delG	ENSP00000253332:p.Glu1442fs		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Del	DEL	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.E1442fs	ENST00000253332.1	37	c.4324	CCDS5229.1	6																																																																																			AKAP12	-	NULL	ENSG00000131016		0.463	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	437	0.00	0	G			151673850	151673850	+1	no_errors	ENST00000253332	ensembl	human	known	69_37n	frame_shift_del	384	23.24	119	DEL	0.099	-
ANO5	203859	genome.wustl.edu	37	11	22272512	22272512	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr11:22272512G>A	ENST00000324559.8	+	12	1452	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	379					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATTTGTTTGATAATGAGTC	0.299																																						dbGAP											0													85.0	83.0	84.0					11																	22272512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1135G>A	11.37:g.22272512G>A	ENSP00000315371:p.Asp379Asn			Missense_Mutation	SNP	pfam_Anoctamin	p.D379N	ENST00000324559.8	37	c.1135	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.217358	0.95104	.	.	ENSG00000171714	ENST00000324559	T	0.65549	-0.16	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.85944	0.5815	H	0.95950	3.745	0.80722	D	1	D	0.63046	0.992	D	0.65987	0.94	D	0.90082	0.4171	10	0.87932	D	0	.	19.6309	0.95701	0.0:0.0:1.0:0.0	.	379	Q75V66	ANO5_HUMAN	N	379	ENSP00000315371:D379N	ENSP00000315371:D379N	D	+	1	0	ANO5	22229088	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.344000	0.97050	2.630000	0.89119	0.557000	0.71058	GAT	ANO5	-	pfam_Anoctamin	ENSG00000171714		0.299	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	166	0.00	0	G	NM_213599		22272512	22272512	+1	no_errors	ENST00000324559	ensembl	human	known	69_37n	missense	100	13.79	16	SNP	1.000	A
ATP6V0A2	23545	genome.wustl.edu	37	12	124218490	124218490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr12:124218490G>A	ENST00000330342.3	+	7	914	c.666G>A	c.(664-666)tgG>tgA	p.W222*		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	222					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TCATAAAATGGTATGTCTTTT	0.353																																						dbGAP											0													165.0	165.0	165.0					12																	124218490		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.666G>A	12.37:g.124218490G>A	ENSP00000332247:p.Trp222*		A8K026|Q6NUM0	Nonsense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.W222*	ENST00000330342.3	37	c.666	CCDS9254.1	12	.	.	.	.	.	.	.	.	.	.	G	49	15.954293	0.99850	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	.	.	.	5.67	5.67	0.87782	.	0.151741	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-14.9298	19.7498	0.96263	0.0:0.0:1.0:0.0	.	.	.	.	X	222;222;92	.	ENSP00000332247:W222X	W	+	3	0	ATP6V0A2	122784443	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.652000	0.67959	2.674000	0.91012	0.591000	0.81541	TGG	ATP6V0A2	-	pfam_ATPase_V0/A0_a	ENSG00000185344		0.353	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2	180	0.00	0	G	NM_012463		124218490	124218490	+1	no_errors	ENST00000330342	ensembl	human	known	69_37n	nonsense	217	39.89	144	SNP	1.000	A
BTNL2	56244	genome.wustl.edu	37	6	32372739	32372739	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr6:32372739G>T	ENST00000374993.1	-	2	403	c.404C>A	c.(403-405)aCa>aAa	p.T135K	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.T135K|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.T135K|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Missense_Mutation_p.T135K	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	135	Ig-like V-type 1.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CAGCAAGCTTGTTTCTCCACA	0.453																																						dbGAP											0													196.0	183.0	188.0					6																	32372739		1511	2709	4220	-	-	-	SO:0001583	missense	0			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.404C>A	6.37:g.32372739G>T	ENSP00000364132:p.Thr135Lys		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.T135K	ENST00000374993.1	37	c.404		6	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761317	0.69763	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000374993;ENST00000429232	T;T;T	0.02606	4.23;4.23;4.23	4.91	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.630473	0.14215	N	0.333819	T	0.08714	0.0216	M	0.79926	2.475	0.32569	N	0.53008	D	0.64830	0.994	P	0.59825	0.864	T	0.00311	-1.1827	10	0.72032	D	0.01	.	16.1434	0.81544	0.0:0.0:1.0:0.0	.	135	Q9UIR0	BTNL2_HUMAN	K	135	ENSP00000364134:T135K;ENSP00000364132:T135K;ENSP00000411166:T135K	ENSP00000364132:T135K	T	-	2	0	BTNL2	32480717	0.210000	0.23517	0.986000	0.45419	0.557000	0.35523	3.819000	0.55686	2.755000	0.94549	0.632000	0.83419	ACA	BTNL2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000204290		0.453	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	BTNL2	HGNC	protein_coding		198	0.00	0	G	NM_019602		32372739	32372739	-1	no_errors	ENST00000468270	ensembl	human	known	69_37n	missense	130	36.59	75	SNP	0.987	T
CCL13	6357	genome.wustl.edu	37	17	32685053	32685053	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr17:32685053C>A	ENST00000225844.2	+	3	275	c.200C>A	c.(199-201)aCc>aAc	p.T67N		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	67					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AGCTTCAGAACCAAACTGGGC	0.507																																						dbGAP											0													63.0	61.0	62.0					17																	32685053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"""Chemokine ligands"", ""Endogenous ligands"""	10611	protein-coding gene	gene with protein product		601391	"""small inducible cytokine subfamily A (Cys-Cys), member 13"""	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.200C>A	17.37:g.32685053C>A	ENSP00000225844:p.Thr67Asn		O95689|Q6ICQ6	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.T67N	ENST00000225844.2	37	c.200	CCDS11281.1	17	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264975	0.40095	.	.	ENSG00000181374	ENST00000225844	T	0.08458	3.09	4.53	4.53	0.55603	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	.	.	.	.	T	0.26919	0.0659	.	.	.	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.02821	-1.1106	8	0.87932	D	0	.	12.764	0.57380	0.0:1.0:0.0:0.0	.	67	Q99616	CCL13_HUMAN	N	67	ENSP00000225844:T67N	ENSP00000225844:T67N	T	+	2	0	CCL13	29709166	0.001000	0.12720	0.005000	0.12908	0.853000	0.48598	1.050000	0.30404	2.048000	0.60808	0.561000	0.74099	ACC	CCL13	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000181374		0.507	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL13	HGNC	protein_coding	OTTHUMT00000256389.1	133	0.00	0	C	NM_005408		32685053	32685053	+1	no_errors	ENST00000225844	ensembl	human	known	69_37n	missense	83	25.66	29	SNP	0.011	A
COL24A1	255631	genome.wustl.edu	37	1	86249998	86249998	+	Nonsense_Mutation	SNP	G	G	A	rs182355949	byFrequency	TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr1:86249998G>A	ENST00000370571.2	-	49	4477	c.4111C>T	c.(4111-4113)Cga>Tga	p.R1371*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.R1371*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1371	Collagen-like 16.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGTGCTCCTCGGTGACCTCTT	0.458																																						dbGAP											0													118.0	114.0	115.0					1																	86249998		1932	4139	6071	-	-	-	SO:0001587	stop_gained	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4111C>T	1.37:g.86249998G>A	ENSP00000359603:p.Arg1371*		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.R1371*	ENST00000370571.2	37	c.4111	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.709184	0.98922	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.36	-2.3	0.06785	.	0.000000	0.34906	N	0.003595	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	10.6952	0.45894	0.0:0.2159:0.3394:0.4447	.	.	.	.	X	1371	.	ENSP00000359603:R1371X	R	-	1	2	COL24A1	86022586	0.232000	0.23762	0.003000	0.11579	0.882000	0.50991	1.052000	0.30429	-0.342000	0.08363	-0.282000	0.10007	CGA	COL24A1	-	NULL	ENSG00000171502		0.458	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	224	0.00	0	G	NM_152890		86249998	86249998	-1	no_errors	ENST00000370571	ensembl	human	known	69_37n	nonsense	200	28.57	80	SNP	0.000	A
CYHR1	50626	genome.wustl.edu	37	8	145689605	145689605	+	Intron	DEL	G	G	-			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr8:145689605delG	ENST00000438911.2	-	2	380				CYHR1_ENST00000403000.2_Frame_Shift_Del_p.L163fs|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000530374.1_5'Flank|CYHR1_ENST00000424149.2_Frame_Shift_Del_p.L163fs|CYHR1_ENST00000306145.5_Frame_Shift_Del_p.L163fs|KIFC2_ENST00000301332.2_5'Flank	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1							cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TTCGGTAGCAGCAGCAGCCTG	0.632											OREG0019056	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													70.0	73.0	72.0					8																	145689605		2201	4299	6500	-	-	-	SO:0001627	intron_variant	0			AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"""cysteine and histidine rich 1"""			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.246+237C>-	8.37:g.145689605delG		1696	B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Frame_Shift_Del	DEL	NULL	p.L162fs	ENST00000438911.2	37	c.484	CCDS47943.1	8																																																																																			CYHR1	-	NULL	ENSG00000187954		0.632	CYHR1-001	KNOWN	basic|CCDS	protein_coding	CYHR1	HGNC	protein_coding	OTTHUMT00000382438.1	14	0.00	0	G	NM_032687		145689605	145689605	-1	no_errors	ENST00000306145	ensembl	human	known	69_37n	frame_shift_del	10	47.37	9	DEL	0.091	-
DIRAS2	54769	genome.wustl.edu	37	9	93375994	93375994	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr9:93375994G>A	ENST00000375765.3	-	2	504	c.116C>T	c.(115-117)aCg>aTg	p.T39M		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	39					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.T39M(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						GTCTTCCACCGTCGGGATGTA	0.582																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											183.0	157.0	166.0					9																	93375994		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.116C>T	9.37:g.93375994G>A	ENSP00000364919:p.Thr39Met		B3KVM2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T39M	ENST00000375765.3	37	c.116	CCDS6687.1	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475931	0.84640	.	.	ENSG00000165023	ENST00000375765	D	0.88046	-2.33	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95906	0.8667	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97000	0.9728	10	0.87932	D	0	.	17.9796	0.89137	0.0:0.0:1.0:0.0	.	39	Q96HU8	DIRA2_HUMAN	M	39	ENSP00000364919:T39M	ENSP00000364919:T39M	T	-	2	0	DIRAS2	92415814	1.000000	0.71417	0.703000	0.30354	0.982000	0.71751	9.427000	0.97472	2.808000	0.96608	0.655000	0.94253	ACG	DIRAS2	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000165023		0.582	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS2	HGNC	protein_coding	OTTHUMT00000053012.1	200	0.00	0	G			93375994	93375994	-1	no_errors	ENST00000375765	ensembl	human	known	69_37n	missense	241	30.14	104	SNP	1.000	A
FBXO44	93611	genome.wustl.edu	37	1	11718395	11718396	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr1:11718395_11718396insT	ENST00000251547.5	+	3	419_420	c.337_338insT	c.(337-339)cagfs	p.Q113fs	FBXO44_ENST00000251546.4_Frame_Shift_Ins_p.Q113fs|FBXO44_ENST00000376768.1_Frame_Shift_Ins_p.Q113fs|FBXO44_ENST00000376760.1_Frame_Shift_Ins_p.Q113fs|FBXO44_ENST00000376770.1_Frame_Shift_Ins_p.Q113fs|FBXO44_ENST00000376762.4_Frame_Shift_Ins_p.Q113fs	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	113	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTCGAGACCAGAGGAAGGAA	0.485																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	Exception_encountered	1.37:g.11718395_11718396insT	ENSP00000251547:p.Gln113fs		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Frame_Shift_Ins	INS	pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom	p.Q113fs	ENST00000251547.5	37	c.337_338	CCDS132.1	1																																																																																			FBXO44	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000132879		0.485	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO44	HGNC	protein_coding	OTTHUMT00000005761.1	62	0.00	0	-	NM_183412		11718395	11718396	+1	no_errors	ENST00000376768	ensembl	human	known	69_37n	frame_shift_ins	69	32.35	33	INS	0.998:0.983	T
GABRA3	2556	genome.wustl.edu	37	X	151453148	151453148	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chrX:151453148T>A	ENST00000370314.4	-	4	560	c.322A>T	c.(322-324)Act>Tct	p.T108S	GABRA3_ENST00000535043.1_Missense_Mutation_p.T108S	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	108					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACCATGTCAGTGTCTGACACA	0.428																																					NSCLC(142;2578 2613 10251 16743)	dbGAP											0													163.0	132.0	143.0					X																	151453148		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.322A>T	X.37:g.151453148T>A	ENSP00000359337:p.Thr108Ser		Q8TAF9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T108S	ENST00000370314.4	37	c.322	CCDS14706.1	X	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928804	0.52759	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.79033	-1.23;-1.23;-1.23	5.84	5.84	0.93424	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	L	0.49350	1.555	0.40404	D	0.979671	B	0.16802	0.019	B	0.19666	0.026	T	0.69723	-0.5068	10	0.66056	D	0.02	.	7.6947	0.28587	0.0:0.0932:0.0:0.9068	.	108	P34903	GBRA3_HUMAN	S	108	ENSP00000359337:T108S;ENSP00000359334:T108S;ENSP00000443527:T108S	ENSP00000359334:T108S	T	-	1	0	GABRA3	151203804	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.100000	0.57762	1.970000	0.57323	0.486000	0.48141	ACT	GABRA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000011677		0.428	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA3	HGNC	protein_coding	OTTHUMT00000060921.1	398	0.00	0	T	NM_000808		151453148	151453148	-1	no_errors	ENST00000370311	ensembl	human	known	69_37n	missense	303	13.43	47	SNP	1.000	A
GOLGB1	2804	genome.wustl.edu	37	3	121415253	121415253	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr3:121415253C>T	ENST00000340645.5	-	13	4227	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1373K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1368					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCAGGCTTTCGGCATGGACT	0.398																																						dbGAP											0													155.0	160.0	159.0					3																	121415253		2203	4299	6502	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4102G>A	3.37:g.121415253C>T	ENSP00000341848:p.Glu1368Lys		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E1368K	ENST00000340645.5	37	c.4102	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433734	0.25813	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.26660	2.27;2.27;1.72	6.17	3.04	0.35103	.	0.425465	0.22204	N	0.063183	T	0.23054	0.0557	M	0.64997	1.995	0.09310	N	0.999999	P;P;B;B;D	0.57899	0.545;0.545;0.36;0.36;0.981	B;B;B;B;B	0.42771	0.057;0.057;0.028;0.028;0.397	T	0.12451	-1.0547	10	0.30078	T	0.28	.	5.902	0.18972	0.0:0.6316:0.1642:0.2042	.	1293;1332;1373;1373;1368	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	1368;1373;1332	ENSP00000341848:E1368K;ENSP00000377275:E1373K;ENSP00000418231:E1332K	ENSP00000341848:E1368K	E	-	1	0	GOLGB1	122897943	0.132000	0.22450	0.347000	0.25668	0.586000	0.36452	1.581000	0.36558	0.919000	0.36945	0.655000	0.94253	GAA	GOLGB1	-	NULL	ENSG00000173230		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	336	0.00	0	C	NM_004487		121415253	121415253	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	259	26.55	94	SNP	0.033	T
HCK	3055	genome.wustl.edu	37	20	30689216	30689216	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr20:30689216G>A	ENST00000520553.1	+	13	1658	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H	HCK_ENST00000375852.2_Missense_Mutation_p.R492H|HCK_ENST00000534862.1_Missense_Mutation_p.R472H|HCK_ENST00000375862.2_Missense_Mutation_p.R491H|HCK_ENST00000538448.1_Missense_Mutation_p.R471H|HCK_ENST00000518730.1_Missense_Mutation_p.R470H	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	492	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	ATCATGATGCGCTGCTGGAAA	0.567																																						dbGAP											0													64.0	55.0	58.0					20																	30689216		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1412G>A	20.37:g.30689216G>A	ENSP00000429848:p.Arg471His		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.R492H	ENST00000520553.1	37	c.1475	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603061	0.46423	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.9	4.9	0.64082	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.208897	0.40222	N	0.001160	D	0.82314	0.5010	M	0.74647	2.275	0.43835	D	0.996411	B;B	0.19331	0.028;0.035	B;B	0.17098	0.01;0.017	T	0.78802	-0.2061	10	0.33940	T	0.23	.	15.3911	0.74744	0.0:0.0:1.0:0.0	.	470;492	P08631-3;P08631	.;HCK_HUMAN	H	472;471;491;471;470;492	ENSP00000444986:R472H;ENSP00000441169:R471H;ENSP00000365022:R491H;ENSP00000429848:R471H;ENSP00000427757:R470H;ENSP00000365012:R492H	ENSP00000365012:R492H	R	+	2	0	HCK	30152877	0.842000	0.29525	0.996000	0.52242	0.763000	0.43281	2.830000	0.48136	2.560000	0.86352	0.561000	0.74099	CGC	HCK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000101336		0.567	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1	42	0.00	0	G			30689216	30689216	+1	no_errors	ENST00000375852	ensembl	human	known	69_37n	missense	89	19.82	22	SNP	0.998	A
KCNK9	51305	genome.wustl.edu	37	8	140630698	140630698	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr8:140630698G>A	ENST00000520439.1	-	2	991	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.R310C	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	310					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GCCACCGAGCGGCCGCCATAG	0.622																																						dbGAP											0													47.0	52.0	51.0					8																	140630698		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.928C>T	8.37:g.140630698G>A	ENSP00000430676:p.Arg310Cys		Q2M290|Q540F2	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.R310C	ENST00000520439.1	37	c.928	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	G	4.240	0.043423	0.08196	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.15718	2.4;2.4;2.4	4.85	1.76	0.24704	.	0.814960	0.11283	N	0.580098	T	0.14356	0.0347	L	0.51422	1.61	0.31559	N	0.657733	D	0.65815	0.995	B	0.40534	0.332	T	0.25257	-1.0137	10	0.56958	D	0.05	.	5.5333	0.16997	0.0799:0.1504:0.6316:0.1381	.	310	Q9NPC2	KCNK9_HUMAN	C	310	ENSP00000429847:R310C;ENSP00000302166:R310C;ENSP00000430676:R310C	ENSP00000302166:R310C	R	-	1	0	KCNK9	140699880	0.975000	0.34042	0.010000	0.14722	0.002000	0.02628	1.592000	0.36676	0.408000	0.25621	-0.211000	0.12701	CGC	KCNK9	-	pirsf_2pore_dom_K_chnl_TASK/TWIK	ENSG00000169427		0.622	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	66	0.00	0	G	NM_016601		140630698	140630698	-1	no_errors	ENST00000303015	ensembl	human	known	69_37n	missense	58	19.44	14	SNP	0.992	A
KIAA1644	85352	genome.wustl.edu	37	22	44681446	44681446	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr22:44681446C>T	ENST00000381176.4	-	4	593	c.461G>A	c.(460-462)cGg>cAg	p.R154Q		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	154						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CCGAGGGGCCCGAGCGGGGTT	0.687																																						dbGAP											0													42.0	46.0	45.0					22																	44681446		1903	4124	6027	-	-	-	SO:0001583	missense	0			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.461G>A	22.37:g.44681446C>T	ENSP00000370568:p.Arg154Gln		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	NULL	p.R154Q	ENST00000381176.4	37	c.461	CCDS43025.1	22	.	.	.	.	.	.	.	.	.	.	C	3.068	-0.191685	0.06299	.	.	ENSG00000138944	ENST00000381176	.	.	.	4.28	1.68	0.24146	.	0.651810	0.13564	N	0.378521	T	0.10981	0.0268	N	0.02539	-0.55	0.30189	N	0.799679	B	0.15141	0.012	B	0.08055	0.003	T	0.28681	-1.0036	8	0.10902	T	0.67	-14.4147	2.8622	0.05590	0.0:0.4834:0.3006:0.2161	.	154	Q3SXP7	K1644_HUMAN	Q	154	.	ENSP00000370568:R154Q	R	-	2	0	KIAA1644	43012779	1.000000	0.71417	0.925000	0.36789	0.256000	0.26092	1.465000	0.35299	0.905000	0.36596	0.561000	0.74099	CGG	KIAA1644	-	NULL	ENSG00000138944		0.687	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1644	HGNC	protein_coding	OTTHUMT00000075879.2	78	0.00	0	C	NM_001099294		44681446	44681446	-1	no_errors	ENST00000381176	ensembl	human	putative	69_37n	missense	27	30.77	12	SNP	0.995	T
KLHDC7A	127707	genome.wustl.edu	37	1	18809451	18809451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr1:18809451delC	ENST00000400664.1	+	1	2028	c.1976delC	c.(1975-1977)gccfs	p.A659fs		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	659						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGGTGGGCCGGCCCCACC	0.687																																						dbGAP											0													23.0	26.0	25.0					1																	18809451		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1976delC	1.37:g.18809451delC	ENSP00000383505:p.Ala659fs		Q8N8W6	Frame_Shift_Del	DEL	pfam_Kelch_1,smart_Kelch_1	p.G660fs	ENST00000400664.1	37	c.1976	CCDS185.2	1																																																																																			KLHDC7A	-	NULL	ENSG00000179023		0.687	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3	13	0.00	0	C	NM_152375		18809451	18809451	+1	no_errors	ENST00000400664	ensembl	human	known	69_37n	frame_shift_del	6	33.33	3	DEL	0.989	-
LRRC37A6P	387646	genome.wustl.edu	37	10	27537655	27537655	+	lincRNA	DEL	G	G	-			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr10:27537655delG	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AAATACTGGAGGGATAGCAGG	0.328																																						dbGAP											0																																										-	-	-			0																															10.37:g.27537655delG				RNA	DEL	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-	ENSG00000230445		0.328	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	122	0.00	0	G			27537655	27537655	-1	no_errors	ENST00000284414	ensembl	human	known	69_37n	rna	66	33.33	33	DEL	0.057	-
MAP1A	4130	genome.wustl.edu	37	15	43817540	43817540	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr15:43817540C>T	ENST00000300231.5	+	4	4319	c.3869C>T	c.(3868-3870)gCc>gTc	p.A1290V	MAP1A_ENST00000382031.1_Missense_Mutation_p.A1528V|MAP1A_ENST00000399453.1_Missense_Mutation_p.A1290V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1290					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGTCACCTGCCAGCTCATTC	0.527																																						dbGAP											0													87.0	94.0	92.0					15																	43817540		2111	4239	6350	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3869C>T	15.37:g.43817540C>T	ENSP00000300231:p.Ala1290Val		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.A1290V	ENST00000300231.5	37	c.3869	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	8.552	0.875657	0.17395	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01804	4.63;4.63;4.63	4.98	3.05	0.35203	.	.	.	.	.	T	0.03305	0.0096	M	0.74881	2.28	0.09310	N	1	B	0.26809	0.16	B	0.31337	0.128	T	0.35624	-0.9781	9	0.41790	T	0.15	-1.0902	5.3837	0.16206	0.0:0.485:0.3369:0.1781	.	1290	P78559	MAP1A_HUMAN	V	1528;1290;1290	ENSP00000371462:A1528V;ENSP00000382380:A1290V;ENSP00000300231:A1290V	ENSP00000300231:A1290V	A	+	2	0	MAP1A	41604832	0.002000	0.14202	0.541000	0.28102	0.564000	0.35744	0.735000	0.26115	0.665000	0.31066	0.563000	0.77884	GCC	MAP1A	-	NULL	ENSG00000166963		0.527	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	100	0.00	0	C	NM_002373		43817540	43817540	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	142	29.70	60	SNP	0.109	T
MTUS2	23281	genome.wustl.edu	37	13	30066850	30066850	+	Silent	SNP	A	A	G			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr13:30066850A>G	ENST00000380808.2	+	5	726	c.510A>G	c.(508-510)tcA>tcG	p.S170S	MTUS2_ENST00000542829.1_Silent_p.S80S|MTUS2-AS1_ENST00000323380.5_RNA|MTUS2_ENST00000431530.3_Silent_p.S1201S	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1191						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCGGCTGTCATTGCAGGTTA	0.368																																						dbGAP											0													81.0	75.0	77.0					13																	30066850		1826	4083	5909	-	-	-	SO:0001819	synonymous_variant	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.510A>G	13.37:g.30066850A>G			A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	NULL	p.S1201	ENST00000380808.2	37	c.3603	CCDS41874.1	13																																																																																			MTUS2	-	NULL	ENSG00000132938		0.368	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	96	0.00	0	A	XM_166270		30066850	30066850	+1	no_errors	ENST00000431530	ensembl	human	known	69_37n	silent	118	25.79	41	SNP	0.857	G
MUTYH	4595	genome.wustl.edu	37	1	45800095	45800095	+	Missense_Mutation	SNP	T	T	A	rs563275223	byFrequency	TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr1:45800095T>A	ENST00000372098.3	-	2	258	c.125A>T	c.(124-126)aAc>aTc	p.N42I	MUTYH_ENST00000488731.2_Missense_Mutation_p.N28I|MUTYH_ENST00000372100.5_Missense_Mutation_p.N28I|MUTYH_ENST00000528013.2_Missense_Mutation_p.N28I|MUTYH_ENST00000372115.3_Missense_Mutation_p.N42I|MUTYH_ENST00000355498.2_Missense_Mutation_p.N28I|MUTYH_ENST00000529984.1_Missense_Mutation_p.N28I|MUTYH_ENST00000528332.2_Missense_Mutation_p.N42I|MUTYH_ENST00000372110.3_Missense_Mutation_p.N42I|MUTYH_ENST00000354383.6_Missense_Mutation_p.N28I|MUTYH_ENST00000531105.1_Missense_Mutation_p.N28I|MUTYH_ENST00000450313.1_Missense_Mutation_p.N42I|MUTYH_ENST00000448481.1_Missense_Mutation_p.N28I|MUTYH_ENST00000456914.2_Missense_Mutation_p.N28I|MUTYH_ENST00000372104.1_Missense_Mutation_p.N28I			Q9UIF7	MUTYH_HUMAN	mutY homolog	42					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTGACTGTTGTTCTTAGCATG	0.547			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													dbGAP	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													186.0	138.0	154.0					1																	45800095		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.125A>T	1.37:g.45800095T>A	ENSP00000361170:p.Asn42Ile		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.N42I	ENST00000372098.3	37	c.125	CCDS520.1	1	.	.	.	.	.	.	.	.	.	.	T	5.781	0.328415	0.10956	.	.	ENSG00000132781	ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100;ENST00000531105;ENST00000435155;ENST00000528013;ENST00000483127	T;D;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.92965	2.5;-3.14;3.27;3.28;3.27;3.27;3.27;3.26;3.26;3.25;2.5;3.25;3.28;0.78;1.96;0.95;0.9	4.28	-0.902	0.10537	.	1.104040	0.06796	N	0.787932	T	0.80824	0.4697	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.23806	0.062;0.02;0.091;0.016;0.055;0.055	B;B;B;B;B;B	0.21151	0.033;0.033;0.026;0.006;0.017;0.017	T	0.68655	-0.5351	10	0.48119	T	0.1	0.3065	4.1806	0.10374	0.0:0.4437:0.1679:0.3884	.	42;42;42;42;42;28	B4DEX2;E5KP25;Q9UIF7-2;Q9UIF7;E5KP27;E5KP28	.;.;.;MUTYH_HUMAN;.;.	I	28;42;28;28;28;28;28;42;42;42;28;42;28;28;28;28;34	ENSP00000437093:N28I;ENSP00000433076:N42I;ENSP00000361176:N28I;ENSP00000409718:N28I;ENSP00000407590:N28I;ENSP00000346354:N28I;ENSP00000347685:N28I;ENSP00000361170:N42I;ENSP00000361182:N42I;ENSP00000361187:N42I;ENSP00000432330:N28I;ENSP00000408176:N42I;ENSP00000361172:N28I;ENSP00000431292:N28I;ENSP00000403655:N28I;ENSP00000433130:N28I;ENSP00000436469:N34I	ENSP00000346354:N28I	N	-	2	0	MUTYH	45572682	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.182000	0.09726	-0.129000	0.11620	-0.137000	0.14449	AAC	MUTYH	-	NULL	ENSG00000132781		0.547	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1	192	0.00	0	T	NM_012222		45800095	45800095	-1	no_errors	ENST00000450313	ensembl	human	known	69_37n	missense	171	26.50	62	SNP	0.002	A
NOL6	65083	genome.wustl.edu	37	9	33467828	33467828	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr9:33467828C>T	ENST00000379471.2	-	12	1550	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R436Q			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	488					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GAGCTTCAGCCGGTGGCACGC	0.642																																						dbGAP											0													24.0	25.0	25.0					9																	33467828		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1463G>A	9.37:g.33467828C>T	ENSP00000368784:p.Arg488Gln		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.R488Q	ENST00000379471.2	37	c.1463		9	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433585	0.43224	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.75	1.64	0.23874	.	0.284959	0.39985	N	0.001207	T	0.19208	0.0461	N	0.19112	0.55	0.26098	N	0.980857	B;B;B;B;B	0.26258	0.102;0.083;0.083;0.145;0.102	B;B;B;B;B	0.17098	0.017;0.007;0.011;0.016;0.011	T	0.12811	-1.0533	10	0.13853	T	0.58	.	3.6803	0.08308	0.1649:0.4391:0.0:0.396	.	436;485;488;488;488	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	Q	488;488;488;44;488;436	ENSP00000313978:R488Q;ENSP00000297990:R488Q;ENSP00000368784:R488Q;ENSP00000395915:R436Q	ENSP00000297990:R488Q	R	-	2	0	NOL6	33457828	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.528000	0.45624	0.353000	0.24079	0.655000	0.94253	CGG	NOL6	-	pfam_Nrap	ENSG00000165271		0.642	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	49	0.00	0	C	NM_022917		33467828	33467828	-1	no_errors	ENST00000297990	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	1.000	T
NDOR1	27158	genome.wustl.edu	37	9	140109082	140109082	+	Silent	SNP	G	G	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr9:140109082G>T	ENST00000344894.5	+	7	866	c.783G>T	c.(781-783)cgG>cgT	p.R261R	NDOR1_ENST00000458322.2_Silent_p.R261R|NDOR1_ENST00000371521.4_Silent_p.R261R|NDOR1_ENST00000427047.2_Silent_p.R227R	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ATGTCCAGCGGTTCTGCCAGG	0.657																																						dbGAP											0													39.0	37.0	37.0					9																	140109082		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.783G>T	9.37:g.140109082G>T				Silent	SNP	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R261	ENST00000344894.5	37	c.783	CCDS7036.1	9																																																																																			NDOR1	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000188566		0.657	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDOR1	HGNC	protein_coding	OTTHUMT00000254704.1	18	0.00	0	G	NM_014434		140109082	140109082	+1	no_errors	ENST00000371521	ensembl	human	known	69_37n	silent	11	47.62	10	SNP	0.975	T
PADI2	11240	genome.wustl.edu	37	1	17431555	17431555	+	Splice_Site	SNP	C	C	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr1:17431555C>T	ENST00000375486.4	-	2	157	c.94G>A	c.(94-96)Gcg>Acg	p.A32T	PADI2_ENST00000444885.2_Splice_Site_p.A32T|PADI2_ENST00000375481.1_Splice_Site_p.A32T	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	32					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GCTGGGGCCGCGCTGTGGGGA	0.632																																						dbGAP											0													27.0	30.0	29.0					1																	17431555		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.93-1G>A	1.37:g.17431555C>T			Q96DA7|Q9UPN2	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.A32T	ENST00000375486.4	37	c.94	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374680	0.42105	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.10192	2.9;2.9;2.9	4.78	4.78	0.61160	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.201289	0.44097	D	0.000487	T	0.25717	0.0626	L	0.51422	1.61	0.19300	N	0.999978	D;D	0.76494	0.999;0.97	D;P	0.77004	0.989;0.507	T	0.02646	-1.1129	10	0.42905	T	0.14	-32.2521	13.3459	0.60573	0.0:1.0:0.0:0.0	.	32;32	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	T	32	ENSP00000364635:A32T;ENSP00000405894:A32T;ENSP00000364630:A32T	ENSP00000364630:A32T	A	-	1	0	PADI2	17304142	0.986000	0.35501	0.340000	0.25575	0.088000	0.18126	4.121000	0.57904	2.174000	0.68829	0.655000	0.94253	GCG	PADI2	-	pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	ENSG00000117115		0.632	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	18	0.00	0	C		Missense_Mutation	17431555	17431555	-1	no_errors	ENST00000375486	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	0.443	T
PCDHGC5	56097	genome.wustl.edu	37	5	140869114	140869114	+	Silent	SNP	C	C	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr5:140869114C>T	ENST00000252087.1	+	1	307	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGCTGCCTGCTGCCAGT	0.542																																						dbGAP											0													61.0	64.0	63.0					5																	140869114		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.307C>T	5.37:g.140869114C>T			Q9Y5C2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L103	ENST00000252087.1	37	c.307	CCDS4263.1	5																																																																																			PCDHGC5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.542	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	155	0.00	0	C	NM_018929		140869114	140869114	+1	no_errors	ENST00000252087	ensembl	human	known	69_37n	silent	54	25.00	18	SNP	0.999	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	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)	dbGAP		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_Ca/lipid-bd_dom_CaLB,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	109	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	36	54.43	43	SNP	1.000	A
PPP1R1A	5502	genome.wustl.edu	37	12	54976558	54976558	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr12:54976558G>A	ENST00000257905.8	-	4	375	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	69					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						TTCCGTTGCCGTGGAGACATT	0.572																																						dbGAP											0													153.0	158.0	156.0					12																	54976558		2073	4199	6272	-	-	-	SO:0001583	missense	0			U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.205C>T	12.37:g.54976558G>A	ENSP00000257905:p.Arg69Trp		Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	pfam_PPI_1DARPP-32	p.R69W	ENST00000257905.8	37	c.205	CCDS44912.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098125	0.76870	.	.	ENSG00000135447	ENST00000257905	T	0.32515	1.45	4.51	3.56	0.40772	.	0.370471	0.21812	N	0.068747	T	0.43233	0.1238	L	0.59436	1.845	0.34531	D	0.709167	D	0.71674	0.998	P	0.57846	0.828	T	0.58847	-0.7564	10	0.87932	D	0	.	10.3741	0.44071	0.0:0.0:0.8051:0.1949	.	69	Q13522	PPR1A_HUMAN	W	69	ENSP00000257905:R69W	ENSP00000257905:R69W	R	-	1	2	PPP1R1A	53262825	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.421000	0.44688	2.235000	0.73313	0.561000	0.74099	CGG	PPP1R1A	-	pfam_PPI_1DARPP-32	ENSG00000135447		0.572	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406604.1	142	0.00	0	G	NM_006741		54976558	54976558	-1	no_errors	ENST00000257905	ensembl	human	known	69_37n	missense	167	25.78	58	SNP	1.000	A
RAB42	115273	genome.wustl.edu	37	1	28920546	28920547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr1:28920546_28920547insG	ENST00000373826.3	+	2	541_542	c.235_236insG	c.(235-237)tggfs	p.W79fs	RAB42_ENST00000465518.1_3'UTR|TAF12_ENST00000471683.1_Intron	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	79					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGCTGGGGGGGTGTC	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"""RAB, member RAS oncogene"""	28702	protein-coding gene	gene with protein product			"""RAB42, member RAS homolog family"""				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.242dupG	1.37:g.28920553_28920553dupG	ENSP00000362932:p.Trp79fs		B2R5G2	Frame_Shift_Ins	INS	pfam_Small_GTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.V82fs	ENST00000373826.3	37	c.235_236	CCDS325.1	1																																																																																			RAB42	-	NULL	ENSG00000188060		0.584	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB42	HGNC	protein_coding	OTTHUMT00000010371.1	23	0.00	0	-	NM_152304		28920546	28920547	+1	no_errors	ENST00000373826	ensembl	human	known	69_37n	frame_shift_ins	13	18.75	3	INS	1.000:1.000	G
RNH1	6050	genome.wustl.edu	37	11	498509	498509	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr11:498509delG	ENST00000534797.1	-	6	2311	c.904delC	c.(904-906)cgafs	p.R302fs	RNH1_ENST00000397615.2_Frame_Shift_Del_p.R302fs|RNH1_ENST00000438658.2_Frame_Shift_Del_p.R302fs|RNH1_ENST00000533410.1_Frame_Shift_Del_p.R302fs|RNH1_ENST00000354420.2_Frame_Shift_Del_p.R302fs|RNH1_ENST00000397604.3_Frame_Shift_Del_p.R302fs|RNH1_ENST00000397614.1_Frame_Shift_Del_p.R302fs|RNH1_ENST00000356187.5_Frame_Shift_Del_p.R302fs|RNH1_ENST00000533592.1_5'Flank			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACAGCAGTCGGGCACCCTCA	0.677																																						dbGAP											0													56.0	53.0	54.0					11																	498509		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.904delC	11.37:g.498509delG	ENSP00000433999:p.Arg302fs		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	p.R302fs	ENST00000534797.1	37	c.904	CCDS7697.1	11																																																																																			RNH1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000023191		0.677	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNH1	HGNC	protein_coding	OTTHUMT00000384301.1	18	0.00	0	G	NM_203389		498509	498509	-1	no_errors	ENST00000354420	ensembl	human	known	69_37n	frame_shift_del	10	33.33	5	DEL	0.000	-
RREB1	6239	genome.wustl.edu	37	6	7226853	7226853	+	Silent	SNP	G	G	A			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr6:7226853G>A	ENST00000349384.6	+	9	1175	c.861G>A	c.(859-861)acG>acA	p.T287T	RREB1_ENST00000334984.6_Silent_p.T287T|RREB1_ENST00000379938.2_Silent_p.T287T|RREB1_ENST00000379933.3_Silent_p.T287T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	287					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TAGGATTCACGGACTTCTCCT	0.498																																						dbGAP											0													195.0	179.0	184.0					6																	7226853		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.861G>A	6.37:g.7226853G>A			A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T287	ENST00000349384.6	37	c.861	CCDS34336.1	6																																																																																			RREB1	-	NULL	ENSG00000124782		0.498	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	220	0.00	0	G			7226853	7226853	+1	no_errors	ENST00000379938	ensembl	human	known	69_37n	silent	119	26.54	43	SNP	0.725	A
COA7	65260	genome.wustl.edu	37	1	53153745	53153745	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr1:53153745C>T	ENST00000371538.3	-	3	382	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GCCAGGAGGCCAACGTTGTGA	0.542																																						dbGAP											0													114.0	92.0	100.0					1																	53153745		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000371538.3:c.343G>A	1.37:g.53153745C>T	ENSP00000360593:p.Gly115Ser			Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.G115S	ENST00000371538.3	37	c.343	CCDS570.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593558	0.86953	.	.	ENSG00000162377	ENST00000371538	T	0.69806	-0.43	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	M	0.88450	2.955	0.80722	D	1	D	0.58268	0.982	P	0.56916	0.809	D	0.85555	0.1224	10	0.66056	D	0.02	-13.7427	19.9541	0.97213	0.0:1.0:0.0:0.0	.	115	Q96BR5	SELR1_HUMAN	S	115	ENSP00000360593:G115S	ENSP00000360593:G115S	G	-	1	0	SELRC1	52926333	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	7.416000	0.80143	2.724000	0.93272	0.549000	0.68633	GGC	SELRC1	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000162377		0.542	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELRC1	HGNC	protein_coding	OTTHUMT00000023462.1	92	0.00	0	C			53153745	53153745	-1	no_errors	ENST00000371538	ensembl	human	known	69_37n	missense	137	15.95	26	SNP	1.000	T
SFXN2	118980	genome.wustl.edu	37	10	104491539	104491539	+	Splice_Site	SNP	G	G	A	rs568644073		TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr10:104491539G>A	ENST00000369893.5	+	7	820	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	218					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GGTCATTCCCGGGTGAGCAGA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		20607	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													97.0	92.0	94.0					10																	104491539		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.654+1G>A	10.37:g.104491539G>A			Q5JSM6	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.R218Q	ENST00000369893.5	37	c.653	CCDS7539.1	10	.	.	.	.	.	.	.	.	.	.	G	14.22	2.468987	0.43839	.	.	ENSG00000156398	ENST00000369893	T	0.29142	1.58	5.94	-1.53	0.08611	.	0.382305	0.30611	N	0.009252	T	0.15652	0.0377	N	0.20401	0.57	0.46927	D	0.999254	B	0.12013	0.005	B	0.14023	0.01	T	0.03773	-1.1005	10	0.49607	T	0.09	-13.7227	6.8492	0.24005	0.3332:0.1169:0.55:0.0	.	218	Q96NB2	SFXN2_HUMAN	Q	218	ENSP00000358909:R218Q	ENSP00000358909:R218Q	R	+	2	0	SFXN2	104481529	0.998000	0.40836	0.993000	0.49108	0.615000	0.37417	0.351000	0.20096	-0.212000	0.10109	-0.291000	0.09656	CGG	SFXN2	-	pfam_Mtc,tigrfam_Mtc	ENSG00000156398		0.507	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	261	0.00	0	G	XM_058359	Missense_Mutation	104491539	104491539	+1	no_errors	ENST00000369893	ensembl	human	known	69_37n	missense	489	11.69	65	SNP	0.998	A
SOX10	6663	genome.wustl.edu	37	22	38373898	38373899	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr22:38373898_38373899insA	ENST00000396884.2	-	3	954_955	c.672_673insT	c.(670-675)tcagatfs	p.D225fs	SOX10_ENST00000360880.2_Frame_Shift_Ins_p.D225fs|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000470555.1_5'Flank	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	225					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GGGTTCCCATCTGACATGGGGG	0.653																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.672_673insT	22.37:g.38373898_38373899insA	ENSP00000380093:p.Asp225fs		B4DV62|Q6FHW7	Frame_Shift_Ins	INS	pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D224fs	ENST00000396884.2	37	c.673_672	CCDS13964.1	22																																																																																			SOX10	-	NULL	ENSG00000100146		0.653	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	HGNC	protein_coding	OTTHUMT00000313875.1	39	0.00	0	-	NM_006941		38373898	38373899	-1	no_errors	ENST00000360880	ensembl	human	known	69_37n	frame_shift_ins	15	21.05	4	INS	1.000:0.787	A
SYCP1	6847	genome.wustl.edu	37	1	115453031	115453031	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr1:115453031C>T	ENST00000369522.3	+	17	1574	c.1334C>T	c.(1333-1335)aCa>aTa	p.T445I	SYCP1_ENST00000369518.1_Missense_Mutation_p.T445I	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	445					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAGGAAACACTTTTATAT	0.333																																						dbGAP											0													46.0	52.0	50.0					1																	115453031		2198	4287	6485	-	-	-	SO:0001583	missense	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1334C>T	1.37:g.115453031C>T	ENSP00000358535:p.Thr445Ile		O14963|Q5VXJ6	Missense_Mutation	SNP	pfam_SCP-1	p.T445I	ENST00000369522.3	37	c.1334	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894106	0.17613	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.46819	0.86;0.86;0.86	5.17	4.04	0.47022	.	0.112711	0.64402	D	0.000018	T	0.11452	0.0279	N	0.08118	0	0.20403	N	0.999904	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.16394	-1.0404	10	0.52906	T	0.07	-7.072	9.5065	0.39051	0.8213:0.1787:0.0:0.0	.	445;445	B7ZLS9;Q15431	.;SYCP1_HUMAN	I	445	ENSP00000358535:T445I;ENSP00000410011:T445I;ENSP00000358531:T445I	ENSP00000358531:T445I	T	+	2	0	SYCP1	115254554	0.997000	0.39634	0.998000	0.56505	0.371000	0.29859	1.100000	0.31025	0.901000	0.36495	-0.541000	0.04245	ACA	SYCP1	-	pfam_SCP-1	ENSG00000198765		0.333	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	189	0.00	0	C	NM_003176		115453031	115453031	+1	no_errors	ENST00000369518	ensembl	human	known	69_37n	missense	116	26.58	42	SNP	1.000	T
TEX19	400629	genome.wustl.edu	37	17	80320351	80320351	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr17:80320351delG	ENST00000333437.4	+	2	635	c.325delG	c.(325-327)gggfs	p.G109fs		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	109					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						AGCCCCAGAAGGGTTGGAAGA	0.662																																						dbGAP											0													65.0	65.0	65.0					17																	80320351		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.325delG	17.37:g.80320351delG	ENSP00000331500:p.Gly109fs			Frame_Shift_Del	DEL	NULL	p.L110fs	ENST00000333437.4	37	c.325	CCDS11809.1	17																																																																																			TEX19	-	NULL	ENSG00000182459		0.662	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX19	HGNC	protein_coding	OTTHUMT00000256331.1	32	0.00	0	G	NM_207459		80320351	80320351	+1	no_errors	ENST00000333437	ensembl	human	known	69_37n	frame_shift_del	22	57.14	36	DEL	0.000	-
WDR44	54521	genome.wustl.edu	37	X	117521341	117521341	+	Silent	SNP	C	C	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chrX:117521341C>T	ENST00000254029.3	+	3	545	c.150C>T	c.(148-150)tcC>tcT	p.S50S	WDR44_ENST00000371822.5_Intron|MIR1277_ENST00000408536.1_RNA|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Silent_p.S50S	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	50	Binding activity.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAATGAGTCCCCTGTACAAG	0.299																																						dbGAP											0													94.0	90.0	91.0					X																	117521341		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.150C>T	X.37:g.117521341C>T			B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S50	ENST00000254029.3	37	c.150	CCDS14572.1	X																																																																																			WDR44	-	NULL	ENSG00000131725		0.299	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	135	0.00	0	C	NM_019045		117521341	117521341	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	silent	131	20.61	34	SNP	0.646	T
WDR83OS	51398	genome.wustl.edu	37	19	12780878	12780878	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr19:12780878G>T	ENST00000596731.1	-	0	1292				WDR83_ENST00000418543.3_Missense_Mutation_p.S64I|WDR83OS_ENST00000222190.5_5'Flank|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000600694.1_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.S64I	NM_016145.3	NP_057229.1	Q9Y284	ASTER_HUMAN	WD repeat domain 83 opposite strand							integral component of membrane (GO:0016021)											CGGACGTACAGCGGCCACGGC	0.657																																						dbGAP											0													40.0	43.0	42.0					19																	12780878		2203	4300	6503	-	-	-			0			AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583			30203	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 56"""	C19orf56		10810093	Standard	NM_016145		Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.-661C>A	19.37:g.12780878G>T			B2R4T8|Q9BVI3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S64I	ENST00000596731.1	37	c.191	CCDS12274.1	19	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409766	0.83340	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.60548	0.18;0.18	5.3	4.25	0.50352	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.118259	0.85682	D	0.000000	T	0.47967	0.1474	L	0.38531	1.155	0.47778	D	0.999516	P	0.46784	0.884	B	0.41619	0.361	T	0.53802	-0.8387	10	0.59425	D	0.04	.	12.6458	0.56733	0.0818:0.0:0.9182:0.0	.	64	Q9BRX9	WDR83_HUMAN	I	64	ENSP00000402653:S64I;ENSP00000242796:S64I	ENSP00000242796:S64I	S	+	2	0	WDR83	12641878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.766000	0.55280	2.636000	0.89361	0.655000	0.94253	AGC	WDR83	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000123154		0.657	WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR83	HGNC	protein_coding	OTTHUMT00000462702.1	46	0.00	0	G	NM_016145		12780878	12780878	+1	no_errors	ENST00000242796	ensembl	human	known	69_37n	missense	36	94.01	675	SNP	1.000	T
ZNF425	155054	genome.wustl.edu	37	7	148801617	148801618	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr7:148801617_148801618insT	ENST00000378061.2	-	4	1477_1478	c.1345_1346insA	c.(1345-1347)aggfs	p.R449fs		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	449					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GAAGAAGCCCCTGCTGCACTCC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1346dupA	7.37:g.148801618_148801618dupT	ENSP00000367300:p.Arg449fs		B3KPM1|Q08AG3	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R449fs	ENST00000378061.2	37	c.1346_1345	CCDS34773.1	7																																																																																			ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.644	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	71	0.00	0	-	XM_088140		148801617	148801618	-1	no_errors	ENST00000378061	ensembl	human	known	69_37n	frame_shift_ins	59	65.09	110	INS	0.000:0.000	T
ZNF675	171392	genome.wustl.edu	37	19	23836263	23836263	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A1-01A-11W-A019-09	TCGA-A8-A0A1-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	73aa20fe-b74b-41ae-88d3-2d5a66908c25	c356aae0-c3f1-4c70-962d-e0d592174bbc	g.chr19:23836263T>C	ENST00000359788.4	-	4	1640	c.1472A>G	c.(1471-1473)cAc>cGc	p.H491R	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	491					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GGATGAGGAGTGTTTAAAAGC	0.378																																						dbGAP											0													44.0	47.0	46.0					19																	23836263		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1472A>G	19.37:g.23836263T>C	ENSP00000352836:p.His491Arg		Q8N211	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.H491R	ENST00000359788.4	37	c.1472	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.718441	0.00005	.	.	ENSG00000197372	ENST00000359788	T	0.17691	2.26	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.04018	-0.295	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.43458	-0.9390	9	0.08599	T	0.76	.	6.7189	0.23318	0.0:0.0:0.0:1.0	.	491	Q8TD23	ZN675_HUMAN	R	491	ENSP00000352836:H491R	ENSP00000352836:H491R	H	-	2	0	ZNF675	23628103	0.000000	0.05858	0.149000	0.22428	0.149000	0.21700	-0.650000	0.05378	0.251000	0.21505	0.248000	0.18094	CAC	ZNF675	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197372		0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	141	0.00	0	T	NM_138330		23836263	23836263	-1	no_errors	ENST00000359788	ensembl	human	known	69_37n	missense	106	25.35	36	SNP	0.000	C
