#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
AGXT2	64902	genome.wustl.edu	37	5	35013131	35013131	+	Silent	SNP	C	C	T			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr5:35013131C>T	ENST00000231420.6	-	11	1316	c.1116G>A	c.(1114-1116)gcG>gcA	p.A372A		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	372					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GCAGGCATTTCGCCAAAGATT	0.502																																						dbGAP											0													73.0	59.0	64.0					5																	35013131		1965	3735	5700	-	-	-	SO:0001819	synonymous_variant	0			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1116G>A	5.37:g.35013131C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.A372	ENST00000231420.6	37	c.1116	CCDS3908.1	5																																																																																			AGXT2	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000113492		0.502	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2	HGNC	protein_coding	OTTHUMT00000207574.2	22	0.00	0	C	NM_031900		35013131	35013131	-1	no_errors	ENST00000231420	ensembl	human	known	69_37n	silent	12	52.00	13	SNP	0.272	T
CYP4Z1	199974	genome.wustl.edu	37	1	47533338	47533338	+	Splice_Site	SNP	A	A	C			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr1:47533338A>C	ENST00000334194.3	+	1	179	c.176A>C	c.(175-177)gAg>gCg	p.E59A		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	59						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GGCCACAAGGAGGTAAGAGGA	0.463																																						dbGAP											0													68.0	70.0	69.0					1																	47533338		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.177+1A>C	1.37:g.47533338A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVE4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.E59A	ENST00000334194.3	37	c.176	CCDS545.1	1	.	.	.	.	.	.	.	.	.	.	A	8.970	0.972741	0.18736	.	.	ENSG00000186160	ENST00000334194	T	0.67523	-0.27	3.1	0.443	0.16587	.	3.695110	0.02908	U	0.136334	T	0.44767	0.1309	N	0.16368	0.405	0.09310	N	1	B	0.32010	0.351	B	0.28465	0.09	T	0.26121	-1.0112	10	0.15066	T	0.55	.	2.7771	0.05350	0.6418:0.0:0.1374:0.2208	.	59	Q86W10	CP4Z1_HUMAN	A	59	ENSP00000334246:E59A	ENSP00000334246:E59A	E	+	2	0	CYP4Z1	47305925	0.346000	0.24844	0.034000	0.17996	0.079000	0.17450	0.616000	0.24344	0.254000	0.21573	0.378000	0.23410	GAG	CYP4Z1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186160		0.463	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	HGNC	protein_coding	OTTHUMT00000022020.1	28	0.00	0	A	NM_178134	Missense_Mutation	47533338	47533338	+1	no_errors	ENST00000334194	ensembl	human	known	69_37n	missense	27	41.30	19	SNP	0.060	C
ATP8B2	57198	genome.wustl.edu	37	1	154303935	154303935	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr1:154303935G>A	ENST00000368489.3	+	6	418	c.418G>A	c.(418-420)Gat>Aat	p.D140N	ATP8B2_ENST00000368487.3_Missense_Mutation_p.D107N|ATP8B2_ENST00000341822.2_Missense_Mutation_p.D126N|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	126					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACAAGAGCGATAACCAGGT	0.507																																						dbGAP											0													83.0	85.0	84.0					1																	154303935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.418G>A	1.37:g.154303935G>A	ENSP00000357475:p.Asp140Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D140N	ENST00000368489.3	37	c.418	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.684168	0.96774	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.85861	-2.04;-2.04;-2.04	5.49	5.49	0.81192	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95560	0.8557	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;P	0.81914	0.995;0.994;0.89	D	0.97207	0.9868	10	0.87932	D	0	.	18.3569	0.90361	0.0:0.0:1.0:0.0	.	126;140;107	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	N	107;140;126	ENSP00000357472:D107N;ENSP00000357475:D140N;ENSP00000340448:D126N	ENSP00000340448:D126N	D	+	1	0	ATP8B2	152570559	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.813000	0.99286	2.573000	0.86826	0.561000	0.74099	GAT	ATP8B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000143515		0.507	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	27	0.00	0	G	NM_020452		154303935	154303935	+1	no_errors	ENST00000368489	ensembl	human	known	69_37n	missense	28	58.21	39	SNP	1.000	A
FCGR2B	2213	genome.wustl.edu	37	1	161641360	161641360	+	Silent	SNP	C	C	T			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr1:161641360C>T	ENST00000358671.5	+	3	393	c.312C>T	c.(310-312)aaC>aaT	p.N104N	FCGR2B_ENST00000428605.2_Silent_p.N104N|FCGR2B_ENST00000367962.4_Silent_p.N104N|FCGR2B_ENST00000367960.5_Silent_p.N97N|FCGR2B_ENST00000403078.3_Silent_p.N104N|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Silent_p.N97N|FCGR2B_ENST00000236937.9_Silent_p.N104N	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	104	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAAGGCCAACAACAATGACA	0.597			T	?	ALL																																	dbGAP		Dom	yes		1	1q23	2213	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""		L	0													45.0	48.0	47.0					1																	161641360		2202	4278	6480	-	-	-	SO:0001819	synonymous_variant	0			BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.312C>T	1.37:g.161641360C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.N104	ENST00000358671.5	37	c.312	CCDS30924.1	1																																																																																			FCGR2B	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000072694		0.597	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	FCGR2B	HGNC	protein_coding	OTTHUMT00000083337.4	30	0.00	0	C	NM_004001		161641360	161641360	+1	no_errors	ENST00000358671	ensembl	human	known	69_37n	silent	37	26.00	13	SNP	0.000	T
GATA3	2625	genome.wustl.edu	37	10	8115862	8115863	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr10:8115862_8115863insC	ENST00000346208.3	+	6	1663_1664	c.1208_1209insC	c.(1207-1212)ctgagcfs	p.S404fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.S405fs			P23771	GATA3_HUMAN	GATA binding protein 3	404					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.L404L(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ATGTCCTCCCTGAGCCACATCT	0.584			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Substitution - coding silent(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	Exception_encountered	10.37:g.8115862_8115863insC	ENSP00000341619:p.Ser404fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S405fs	ENST00000346208.3	37	c.1211_1212	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.584	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	59	0.00	0	-	NM_001002295		8115862	8115863	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	22	18.52	5	INS	1.000:1.000	C
GRIK2	2898	genome.wustl.edu	37	6	102337557	102337557	+	Nonsense_Mutation	SNP	C	C	T	rs140472463		TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr6:102337557C>T	ENST00000421544.1	+	11	2057	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	GRIK2_ENST00000369138.1_Nonsense_Mutation_p.R523*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.R523*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.R523*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.R523*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.R474*	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	523					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R523*(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TACCTATGTTCGAGAGAAGGT	0.393																																						dbGAP											2	Substitution - Nonsense(2)	skin(2)											111.0	109.0	110.0					6																	102337557		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1567C>T	6.37:g.102337557C>T	ENSP00000397026:p.Arg523*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R523*	ENST00000421544.1	37	c.1567	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	C	42	9.430691	0.99169	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4578	0.67428	0.1471:0.8529:0.0:0.0	.	.	.	.	X	523;523;523;523;523;523;474;122	.	ENSP00000313276:R523X	R	+	1	2	GRIK2	102444250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.039000	0.49791	2.626000	0.88956	0.650000	0.86243	CGA	GRIK2	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000164418		0.393	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	36	0.00	0	C			102337557	102337557	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	nonsense	51	26.09	18	SNP	1.000	T
IFT80	57560	genome.wustl.edu	37	3	160095282	160095282	+	Silent	SNP	T	T	A			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr3:160095282T>A	ENST00000326448.7	-	4	738	c.306A>T	c.(304-306)gtA>gtT	p.V102V	IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	102					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGTGAGCTTCTACACTTTTTT	0.318																																						dbGAP											0													106.0	101.0	103.0					3																	160095282		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.306A>T	3.37:g.160095282T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V102	ENST00000326448.7	37	c.306	CCDS3188.1	3																																																																																			IFT80	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000068885		0.318	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT80	HGNC	protein_coding	OTTHUMT00000352651.2	94	0.00	0	T	NM_020800		160095282	160095282	-1	no_errors	ENST00000326448	ensembl	human	known	69_37n	silent	114	34.48	60	SNP	0.850	A
KCTD3	51133	genome.wustl.edu	37	1	215759936	215759936	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr1:215759936C>T	ENST00000259154.4	+	9	1019	c.725C>T	c.(724-726)cCa>cTa	p.P242L		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	242					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTTGGAGGGCCACATGGAGAC	0.453																																						dbGAP											0													203.0	196.0	199.0					1																	215759936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.725C>T	1.37:g.215759936C>T	ENSP00000259154:p.Pro242Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.P242L	ENST00000259154.4	37	c.725	CCDS1515.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349903	0.82132	.	.	ENSG00000136636	ENST00000259154	T	0.38077	1.16	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.51422	1.61	0.80722	D	1	D;P	0.53151	0.958;0.65	P;B	0.45276	0.475;0.244	T	0.33803	-0.9854	10	0.66056	D	0.02	-23.3687	19.1816	0.93625	0.0:1.0:0.0:0.0	.	242;242	Q9Y597-2;Q9Y597	.;KCTD3_HUMAN	L	242	ENSP00000259154:P242L	ENSP00000259154:P242L	P	+	2	0	KCTD3	213826559	1.000000	0.71417	0.976000	0.42696	0.990000	0.78478	7.487000	0.81328	2.779000	0.95612	0.591000	0.81541	CCA	KCTD3	-	NULL	ENSG00000136636		0.453	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD3	HGNC	protein_coding	OTTHUMT00000089871.2	64	0.00	0	C	NM_016121		215759936	215759936	+1	no_errors	ENST00000259154	ensembl	human	known	69_37n	missense	52	45.26	43	SNP	1.000	T
GSE1	23199	genome.wustl.edu	37	16	85701963	85701963	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr16:85701963delG	ENST00000253458.7	+	14	3524	c.3348delG	c.(3346-3348)gagfs	p.E1117fs	GSE1_ENST00000393243.1_Frame_Shift_Del_p.E1044fs|GSE1_ENST00000405402.2_Frame_Shift_Del_p.E1013fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1117																	aagatgaggaggaAGTCCCCA	0.602																																						dbGAP											0													46.0	54.0	51.0					16																	85701963		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3348delG	16.37:g.85701963delG	ENSP00000253458:p.Glu1117fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	pfam_DUF3736	p.E1117fs	ENST00000253458.7	37	c.3348	CCDS10952.1	16																																																																																			KIAA0182	-	NULL	ENSG00000131149		0.602	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA0182	HGNC	protein_coding	OTTHUMT00000325527.1	23	0.00	0	G	NM_014615		85701963	85701963	+1	no_errors	ENST00000253458	ensembl	human	known	69_37n	frame_shift_del	14	40.00	10	DEL	0.370	-
MAP2K4	6416	genome.wustl.edu	37	17	11998898	11998898	+	Missense_Mutation	SNP	C	C	T	rs375500789		TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr17:11998898C>T	ENST00000353533.5	+	4	463	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.R145W	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.R134W(2)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CCAGAGAATTCGGTCAACAGT	0.338			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Substitution - Missense(2)|Unknown(1)	breast(4)|ovary(4)|large_intestine(2)|biliary_tract(1)|skin(1)|pancreas(1)											112.0	109.0	110.0					17																	11998898		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.400C>T	17.37:g.11998898C>T	ENSP00000262445:p.Arg134Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R145W	ENST00000353533.5	37	c.433	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600257	0.46423	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.66815	-0.23;-0.23	5.97	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	D	0.85848	0.1402	10	0.87932	D	0	.	14.9277	0.70893	0.1438:0.8562:0.0:0.0	.	6;145;134	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	W	134;145;111;6	ENSP00000262445:R134W;ENSP00000410402:R145W	ENSP00000262445:R134W	R	+	1	2	MAP2K4	11939623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.735000	0.62051	2.835000	0.97688	0.591000	0.81541	CGG	MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.338	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	118	0.00	0	C			11998898	11998898	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	missense	97	39.75	64	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151945601	151945601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr7:151945601C>A	ENST00000262189.6	-	14	2136	c.1918G>T	c.(1918-1920)Gaa>Taa	p.E640*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E640*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	640					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATTTGATCTTCGCCACAAATA	0.373																																						dbGAP											0													63.0	60.0	61.0					7																	151945601		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1918G>T	7.37:g.151945601C>A	ENSP00000262189:p.Glu640*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E640*	ENST00000262189.6	37	c.1918	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.087351	0.97271	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.23	3.41	0.39046	.	0.796135	0.10777	N	0.635336	.	.	.	.	.	.	0.20196	N	0.999928	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	8.6601	0.34088	0.0:0.7696:0.0:0.2304	.	.	.	.	X	640	.	ENSP00000262189:E640X	E	-	1	0	MLL3	151576534	0.003000	0.15002	0.693000	0.30195	0.016000	0.09150	0.785000	0.26830	1.342000	0.45619	0.650000	0.86243	GAA	MLL3	-	NULL	ENSG00000055609		0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	31	0.00	0	C			151945601	151945601	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	49	39.51	32	SNP	0.108	A
MUC16	94025	genome.wustl.edu	37	19	9005718	9005718	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr19:9005718C>T	ENST00000397910.4	-	46	39891	c.39688G>A	c.(39688-39690)Gga>Aga	p.G13230R	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13232	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGCTACTCCATCCTTCTCA	0.562																																						dbGAP											0													62.0	59.0	60.0					19																	9005718		2036	4177	6213	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39688G>A	19.37:g.9005718C>T	ENSP00000381008:p.Gly13230Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.G13230R	ENST00000397910.4	37	c.39688	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.57|11.57	1.678764|1.678764	0.29783|0.29783	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000441155|ENST00000542240	T|.	0.46451|.	0.87|.	3.51|3.51	2.45|2.45	0.29901|0.29901	SEA (1);|.	0.000000|.	0.31472|.	U|.	0.007590|.	T|T	0.55940|0.55940	0.1952|0.1952	M|M	0.68593|0.68593	2.085|2.085	.|.	.|.	.|.	D;D|.	0.76494|.	0.971;0.999|.	P;D|.	0.83275|.	0.625;0.996|.	T|T	0.63148|0.63148	-0.6702|-0.6702	9|4	0.87932|.	D|.	0|.	-11.7182|-11.7182	7.3243|7.3243	0.26547|0.26547	0.0:0.8661:0.0:0.1339|0.0:0.8661:0.0:0.1339	.|.	20875;13230|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	R|I	13230;361|69	ENSP00000381008:G13230R|.	ENSP00000381008:G13230R|.	G|M	-|-	1|3	0|0	MUC16|MUC16	8866718|8866718	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.002000|0.002000	0.02628|0.02628	0.611000|0.611000	0.24268|0.24268	0.742000|0.742000	0.32697|0.32697	0.455000|0.455000	0.32223|0.32223	GGA|ATG	MUC16	-	pfam_SEA	ENSG00000181143		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	21	0.00	0	C	NM_024690		9005718	9005718	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	24	35.90	14	SNP	0.016	T
RNF217	154214	genome.wustl.edu	37	6	125397899	125397899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr6:125397899C>T	ENST00000521654.2	+	4	1378	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*	RNF217_ENST00000275184.6_Nonsense_Mutation_p.R104*|RNF217_ENST00000560949.1_Nonsense_Mutation_p.R225*|RNF217_ENST00000368414.2_Nonsense_Mutation_p.R22*|RNF217_ENST00000359704.2_Nonsense_Mutation_p.R168*			Q8TC41	RN217_HUMAN	ring finger protein 217	460					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CCGCCAGCTCCGATTTTTTGG	0.448																																						dbGAP											0													172.0	156.0	162.0					6																	125397899		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"""RING-type (C3HC4) zinc fingers"""	21487	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 172"", ""IBR domain containing 1"""	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1378C>T	6.37:g.125397899C>T	ENSP00000428698:p.Arg460*	Somatic		WXS	Illumina GAIIx	Phase_IV	H7C5V4|Q5TCA4|Q9BX48	Nonsense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_C6HC	p.R225*	ENST00000521654.2	37	c.673		6	.	.	.	.	.	.	.	.	.	.	C	37	5.988694	0.97179	.	.	ENSG00000146373	ENST00000521654;ENST00000368414;ENST00000359704;ENST00000275184	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	19.9029	0.96995	0.0:1.0:0.0:0.0	.	.	.	.	X	225;22;168;104	.	ENSP00000275184:R104X	R	+	1	2	RNF217	125439598	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.790000	0.69038	2.776000	0.95493	0.650000	0.86243	CGA	RNF217	-	smart_Znf_C6HC	ENSG00000146373		0.448	RNF217-002	NOVEL	basic|appris_principal	protein_coding	RNF217	HGNC	protein_coding	OTTHUMT00000042063.3	37	0.00	0	C	NM_152553		125397899	125397899	+1	no_errors	ENST00000560949	ensembl	human	known	69_37n	nonsense	43	45.57	36	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23909753	23909753	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr13:23909753C>A	ENST00000382292.3	-	9	8535	c.8262G>T	c.(8260-8262)aaG>aaT	p.K2754N	SACS_ENST00000382298.3_Missense_Mutation_p.K2754N|SACS_ENST00000402364.1_Missense_Mutation_p.K2004N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2754					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTCCAGTACTCTTATCTATTT	0.363																																						dbGAP											0													65.0	63.0	63.0					13																	23909753		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8262G>T	13.37:g.23909753C>A	ENSP00000371729:p.Lys2754Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.K2754N	ENST00000382292.3	37	c.8262	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	8.432	0.848920	0.17034	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.95307	-3.67;-3.67;-3.67	5.26	-0.585	0.11698	.	0.161021	0.52532	D	0.000062	D	0.83073	0.5175	N	0.04018	-0.295	0.19945	N	0.999949	B	0.06786	0.001	B	0.04013	0.001	T	0.71593	-0.4546	10	0.24483	T	0.36	.	9.9049	0.41370	0.0:0.3348:0.0:0.6652	.	2754	Q9NZJ4	SACS_HUMAN	N	2754;2004;2754	ENSP00000371729:K2754N;ENSP00000385844:K2004N;ENSP00000371735:K2754N	ENSP00000371729:K2754N	K	-	3	2	SACS	22807753	0.028000	0.19301	0.056000	0.19401	0.854000	0.48673	0.197000	0.17197	-0.011000	0.14247	-0.605000	0.04089	AAG	SACS	-	NULL	ENSG00000151835		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	45	0.00	0	C	NM_014363		23909753	23909753	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	69	28.87	28	SNP	0.021	A
SLC22A25	387601	genome.wustl.edu	37	11	62931501	62931501	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr11:62931501C>T	ENST00000306494.6	-	9	1438	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGCCAGGGCTCCCCCAATATT	0.443																																						dbGAP											0													138.0	151.0	146.0					11																	62931501		2201	4298	6499	-	-	-	SO:0001583	missense	0			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1439G>A	11.37:g.62931501C>T	ENSP00000307443:p.Gly480Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G480E	ENST00000306494.6	37	c.1439	CCDS31592.1	11	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033612	0.35893	.	.	ENSG00000196600	ENST00000306494	T	0.63417	-0.04	4.03	-2.19	0.07015	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.338818	0.29087	N	0.013191	T	0.56848	0.2013	M	0.67569	2.06	0.09310	N	1	P	0.41188	0.741	P	0.45712	0.491	T	0.53760	-0.8393	10	0.72032	D	0.01	.	4.0556	0.09814	0.1006:0.4745:0.2762:0.1487	.	480	Q6T423	S22AP_HUMAN	E	480	ENSP00000307443:G480E	ENSP00000307443:G480E	G	-	2	0	SLC22A25	62688077	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.014000	0.13333	-0.149000	0.11215	-1.081000	0.02215	GGA	SLC22A25	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000196600		0.443	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A25	HGNC	protein_coding	OTTHUMT00000383519.3	40	0.00	0	C	NM_199352		62931501	62931501	-1	no_errors	ENST00000306494	ensembl	human	known	69_37n	missense	46	32.35	22	SNP	0.000	T
SSR4	6748	genome.wustl.edu	37	X	153063795	153063795	+	Silent	SNP	C	C	T			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chrX:153063795C>T	ENST00000320857.3	+	7	1513	c.429C>T	c.(427-429)aaC>aaT	p.N143N	SSR4_ENST00000370086.3_Silent_p.N143N|SSR4_ENST00000370087.1_Silent_p.N143N|SSR4_ENST00000370085.3_Silent_p.N118N|SSR4_ENST00000460616.1_3'UTR	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	143					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|Sec61 translocon complex (GO:0005784)				central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACTTGGAACGGGCCCTGGG	0.612																																						dbGAP											0													48.0	39.0	42.0					X																	153063795		2193	4299	6492	-	-	-	SO:0001819	synonymous_variant	0			BC032351	CCDS14731.1	Xq28	2011-08-31	2011-08-31		ENSG00000180879	ENSG00000180879			11326	protein-coding gene	gene with protein product	"""translocon-associated protein delta"""	300090				9286695	Standard	NM_001204526		Approved	TRAPD	uc022chw.1	P51571	OTTHUMG00000024212	ENST00000320857.3:c.429C>T	X.37:g.153063795C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K378|Q53XY1	Missense_Mutation	SNP	pfam_TRAP-delta	p.T90M	ENST00000320857.3	37	c.269	CCDS14731.1	X	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.264735	0.01433	.	.	ENSG00000180879	ENST00000447375	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.71550	0.3353	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.81521	-0.0895	4	.	.	.	-6.9362	22.626	0.99974	0.0:0.7559:0.0:0.2441	.	.	.	.	M	90	.	.	T	+	2	0	SSR4	152716989	0.003000	0.15002	0.152000	0.22495	0.062000	0.15995	-1.481000	0.02323	-3.105000	0.00243	-2.181000	0.00316	ACG	SSR4	-	pfam_TRAP-delta	ENSG00000180879		0.612	SSR4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR4	HGNC	protein_coding	OTTHUMT00000061029.1	25	0.00	0	C	NM_006280		153063795	153063795	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000447375	ensembl	human	known	69_37n	missense	17	54.05	20	SNP	0.177	T
VIL1	7429	genome.wustl.edu	37	2	219301940	219301940	+	Missense_Mutation	SNP	C	C	A	rs370604646		TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr2:219301940C>A	ENST00000248444.5	+	17	2153	c.2065C>A	c.(2065-2067)Cgt>Agt	p.R689S	VIL1_ENST00000392114.2_Missense_Mutation_p.R378S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	689	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCAGCGGGCGTGACCCTGA	0.572																																						dbGAP											0													132.0	120.0	124.0					2																	219301940		2203	4300	6503	-	-	-	SO:0001583	missense	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2065C>A	2.37:g.219301940C>A	ENSP00000248444:p.Arg689Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.R689S	ENST00000248444.5	37	c.2065	CCDS2417.1	2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096905	0.76870	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.60040	0.22;0.22	5.01	4.12	0.48240	Gelsolin domain (1);	0.000000	0.64402	D	0.000002	T	0.78509	0.4294	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82882	-0.0237	10	0.72032	D	0.01	-17.4745	13.1606	0.59542	0.289:0.711:0.0:0.0	.	689	P09327	VILI_HUMAN	S	689;378	ENSP00000248444:R689S;ENSP00000375962:R378S	ENSP00000248444:R689S	R	+	1	0	VIL1	219010184	0.997000	0.39634	0.452000	0.26994	0.777000	0.43975	2.353000	0.44089	1.462000	0.47948	0.655000	0.94253	CGT	VIL1	-	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	ENSG00000127831		0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3	18	0.00	0	C	NM_007127		219301940	219301940	+1	no_errors	ENST00000248444	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	1.000	A
WDR3	10885	genome.wustl.edu	37	1	118491067	118491067	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr1:118491067C>A	ENST00000349139.5	+	13	1509	c.1462C>A	c.(1462-1464)Ctg>Atg	p.L488M		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	488						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTCAGGGAATCTGCTGGAGAC	0.473																																						dbGAP											0													112.0	103.0	106.0					1																	118491067		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1462C>A	1.37:g.118491067C>A	ENSP00000308179:p.Leu488Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L488M	ENST00000349139.5	37	c.1462	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099652	0.56183	.	.	ENSG00000065183	ENST00000349139	T	0.61627	0.09	5.57	2.19	0.27852	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.180389	0.49916	D	0.000135	T	0.45756	0.1358	L	0.35854	1.095	0.80722	D	1	D	0.59767	0.986	D	0.67548	0.952	T	0.42849	-0.9427	10	0.33940	T	0.23	-2.7439	5.5257	0.16957	0.1181:0.618:0.1155:0.1483	.	488	Q9UNX4	WDR3_HUMAN	M	488	ENSP00000308179:L488M	ENSP00000308179:L488M	L	+	1	2	WDR3	118292590	0.969000	0.33509	0.999000	0.59377	0.927000	0.56198	1.418000	0.34782	0.699000	0.31761	0.655000	0.94253	CTG	WDR3	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000065183		0.473	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	37	0.00	0	C	NM_006784		118491067	118491067	+1	no_errors	ENST00000349139	ensembl	human	known	69_37n	missense	34	46.88	30	SNP	0.996	A
ZNF229	7772	genome.wustl.edu	37	19	44933794	44933794	+	Nonsense_Mutation	SNP	G	G	A	rs377446964		TCGA-B6-A0X4-01A-11D-A10G-09	TCGA-B6-A0X4-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	edbe95af-e727-4d0f-a2a4-a3c9f2afa901	082a4db7-4d3f-4e2f-865f-f322b7b8da7a	g.chr19:44933794G>A	ENST00000588931.1	-	6	1595	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Nonsense_Mutation_p.R382*	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTTGAACTTCGACCAAATGCC	0.478																																						dbGAP											0													102.0	112.0	108.0					19																	44933794		2198	4299	6497	-	-	-	SO:0001587	stop_gained	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1162C>T	19.37:g.44933794G>A	ENSP00000466519:p.Arg388*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWN3|Q59FV2|Q86WL9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R388*	ENST00000588931.1	37	c.1162	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	G	42	9.345153	0.99143	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.86	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	6.8977	0.24265	0.0981:0.0:0.7298:0.1721	.	.	.	.	X	388	.	ENSP00000291187:R388X	R	-	1	2	ZNF229	49625634	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.041000	0.12084	0.604000	0.29930	0.609000	0.83330	CGA	ZNF229	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167383		0.478	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	37	0.00	0	G	NM_014518		44933794	44933794	-1	no_errors	ENST00000588931	ensembl	human	known	69_37n	nonsense	23	57.41	31	SNP	0.004	A
