#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
ABHD2	11057	genome.wustl.edu	37	15	89736512	89736513	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr15:89736512_89736513insG	ENST00000352732.5	+	10	1563_1564	c.1043_1044insG	c.(1042-1047)gtgcatfs	p.H349fs	ABHD2_ENST00000565973.1_Frame_Shift_Ins_p.H349fs|ABHD2_ENST00000355100.3_Frame_Shift_Ins_p.H349fs	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	349					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GATCCGTTGGTGCATGAAAGTC	0.426																																					Colon(11;252 417 24570 33239 41878)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1044dupG	15.37:g.89736513_89736513dupG	ENSP00000268129:p.His349fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Frame_Shift_Ins	INS	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.H349fs	ENST00000352732.5	37	c.1043_1044	CCDS10348.1	15																																																																																			ABHD2	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	ENSG00000140526		0.426	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	56	0.00	0	-			89736512	89736513	+1	no_errors	ENST00000352732	ensembl	human	known	69_37n	frame_shift_ins	54	39.33	35	INS	1.000:1.000	G
ABHD2	11057	genome.wustl.edu	37	15	89736512	89736513	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr15:89736512_89736513insG	ENST00000352732.5	+	10	1563_1564	c.1043_1044insG	c.(1042-1047)gtgcatfs	p.H349fs	ABHD2_ENST00000565973.1_Frame_Shift_Ins_p.H349fs|ABHD2_ENST00000355100.3_Frame_Shift_Ins_p.H349fs	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	349					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GATCCGTTGGTGCATGAAAGTC	0.426																																					Colon(11;252 417 24570 33239 41878)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1044dupG	15.37:g.89736513_89736513dupG	ENSP00000268129:p.His349fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Frame_Shift_Ins	INS	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.H349fs	ENST00000352732.5	37	c.1043_1044	CCDS10348.1	15																																																																																			ABHD2	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	ENSG00000140526		0.426	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	221	0.00	0	-			89736512	89736513	+1	no_errors	ENST00000352732	ensembl	human	known	69_37n	frame_shift_ins	54	39.33	35	INS	1.000:1.000	G
ACAA1	30	genome.wustl.edu	37	3	38175453	38175453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr3:38175453G>A	ENST00000333167.8	-	3	485	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	ACAA1_ENST00000480865.1_5'Flank|ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q105*|ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q105*|ACAA1_ENST00000301810.7_Nonsense_Mutation_p.Q105*|ACAA1_ENST00000544624.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	105					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CTCAGAAACTGGGCGATTCGG	0.547																																						dbGAP											0													67.0	68.0	67.0					3																	38175453		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.313C>T	3.37:g.38175453G>A	ENSP00000333664:p.Gln105*	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E935|Q96CA6	Nonsense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,pfam_ACP_syn_III_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.Q105*	ENST00000333167.8	37	c.313	CCDS2673.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.248031	0.97412	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000444607	.	.	.	5.58	4.71	0.59529	.	0.113258	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.393	14.2139	0.65781	0.0725:0.0:0.9275:0.0	.	.	.	.	X	105;105;105;37;105	.	ENSP00000301810:Q105X	Q	-	1	0	ACAA1	38150457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.396000	0.79891	1.491000	0.48482	0.655000	0.94253	CAG	ACAA1	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000060971		0.547	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAA1	HGNC	protein_coding	OTTHUMT00000342980.1	42	0.00	0	G	NM_001607		38175453	38175453	-1	no_errors	ENST00000333167	ensembl	human	known	69_37n	nonsense	21	19.23	5	SNP	1.000	A
ADNP2	22850	genome.wustl.edu	37	18	77895086	77895086	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr18:77895086C>G	ENST00000262198.4	+	4	2245	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	597					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACATCAGGCTCTATTCTCAGA	0.557																																						dbGAP											0													100.0	97.0	98.0					18																	77895086		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1790C>G	18.37:g.77895086C>G	ENSP00000262198:p.Ser597Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.S597C	ENST00000262198.4	37	c.1790	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417081	0.62511	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.86	4.86	0.63082	.	0.090812	0.48286	D	0.000190	T	0.56171	0.1967	L	0.27053	0.805	0.30942	N	0.725701	D	0.89917	1.0	D	0.74348	0.983	T	0.56195	-0.8019	8	.	.	.	-31.3167	18.19	0.89804	0.0:1.0:0.0:0.0	.	597	Q6IQ32	ADNP2_HUMAN	C	597	.	.	S	+	2	0	ADNP2	75996077	0.999000	0.42202	0.998000	0.56505	0.990000	0.78478	4.792000	0.62467	2.537000	0.85549	0.650000	0.86243	TCT	ADNP2	-	NULL	ENSG00000101544		0.557	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	72	0.00	0	C	NM_014913		77895086	77895086	+1	no_errors	ENST00000262198	ensembl	human	known	69_37n	missense	61	54.81	74	SNP	0.899	G
ADNP2	22850	genome.wustl.edu	37	18	77895086	77895086	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr18:77895086C>G	ENST00000262198.4	+	4	2245	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	597					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACATCAGGCTCTATTCTCAGA	0.557																																						dbGAP											0													100.0	97.0	98.0					18																	77895086		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1790C>G	18.37:g.77895086C>G	ENSP00000262198:p.Ser597Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.S597C	ENST00000262198.4	37	c.1790	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417081	0.62511	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.86	4.86	0.63082	.	0.090812	0.48286	D	0.000190	T	0.56171	0.1967	L	0.27053	0.805	0.30942	N	0.725701	D	0.89917	1.0	D	0.74348	0.983	T	0.56195	-0.8019	8	.	.	.	-31.3167	18.19	0.89804	0.0:1.0:0.0:0.0	.	597	Q6IQ32	ADNP2_HUMAN	C	597	.	.	S	+	2	0	ADNP2	75996077	0.999000	0.42202	0.998000	0.56505	0.990000	0.78478	4.792000	0.62467	2.537000	0.85549	0.650000	0.86243	TCT	ADNP2	-	NULL	ENSG00000101544		0.557	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	78	0.00	0	C	NM_014913		77895086	77895086	+1	no_errors	ENST00000262198	ensembl	human	known	69_37n	missense	61	54.81	74	SNP	0.899	G
ALDH1L1	10840	genome.wustl.edu	37	3	125877314	125877315	+	Frame_Shift_Ins	INS	-	-	G	rs139977408	byFrequency	TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr3:125877314_125877315insG	ENST00000393434.2	-	3	644_645	c.295_296insC	c.(295-297)cggfs	p.R99fs	ALDH1L1_ENST00000452905.2_Frame_Shift_Ins_p.R99fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Ins_p.R99fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Ins_p.R109fs|ALDH1L1_ENST00000393431.2_Frame_Shift_Ins_p.R99fs|ALDH1L1_ENST00000455064.2_Intron|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000413612.1_5'Flank	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	99	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGAGCCATGCCGGGGGGCACTG	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.296dupC	3.37:g.125877320_125877320dupG	ENSP00000377083:p.Arg99fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG36|E9PBX3|Q68CS1	Frame_Shift_Ins	INS	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.R99fs	ENST00000393434.2	37	c.296_295	CCDS3034.1	3																																																																																			ALDH1L1	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH	ENSG00000144908		0.594	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	49	0.00	0	-	NM_012190		125877314	125877315	-1	no_errors	ENST00000393434	ensembl	human	known	69_37n	frame_shift_ins	25	10.71	3	INS	0.003:0.088	G
ANKRD20A4	728747	genome.wustl.edu	37	9	69416170	69416170	+	Missense_Mutation	SNP	C	C	G	rs2633889	byFrequency	TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr9:69416170C>G	ENST00000357336.3	+	12	1398	c.1117C>G	c.(1117-1119)Caa>Gaa	p.Q373E		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	373										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGAAGAGCAACAAAGGCATGA	0.328													G|||	1749	0.349241	0.4024	0.2867	5008	,	,		9137	0.3214		0.2952	False		,,,				2504	0.4059					dbGAP											0													46.0	58.0	54.0					9																	69416170		955	2091	3046	-	-	-	SO:0001583	missense	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1117C>G	9.37:g.69416170C>G	ENSP00000349891:p.Gln373Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q373E	ENST00000357336.3	37	c.1117	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.485962	0.00163	.	.	ENSG00000172014	ENST00000357336	T	0.30714	1.52	2.43	-0.117	0.13551	.	.	.	.	.	T	0.08179	0.0204	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	8	0.02654	T	1	.	2.9281	0.05791	0.433:0.235:0.3321:0.0	.	373	Q4UJ75	A20A4_HUMAN	E	373	ENSP00000349891:Q373E	ENSP00000349891:Q373E	Q	+	1	0	ANKRD20A4	68705990	0.131000	0.22433	0.000000	0.03702	0.002000	0.02628	0.623000	0.24447	-0.698000	0.05085	-1.122000	0.02009	CAA	ANKRD20A4	-	NULL	ENSG00000172014		0.328	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	100	0.99	1	C	NM_001098805		69416170	69416170	+1	no_errors	ENST00000357336	ensembl	human	known	69_37n	missense	111	14.62	19	SNP	0.000	G
ANKRD20A4	728747	genome.wustl.edu	37	9	69421946	69421946	+	Silent	SNP	T	T	C	rs201965999	byFrequency	TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr9:69421946T>C	ENST00000357336.3	+	14	1691	c.1410T>C	c.(1408-1410)taT>taC	p.Y470Y		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	470										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGAAACAATATAAGAAAGAAG	0.303																																						dbGAP											0													1.0	2.0	1.0					9																	69421946		286	893	1179	-	-	-	SO:0001819	synonymous_variant	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1410T>C	9.37:g.69421946T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Y470	ENST00000357336.3	37	c.1410	CCDS43828.1	9																																																																																			ANKRD20A4	-	NULL	ENSG00000172014		0.303	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	21	0.00	0	T	NM_001098805		69421946	69421946	+1	no_errors	ENST00000357336	ensembl	human	known	69_37n	silent	23	28.12	9	SNP	0.129	C
ATG9B	285973	genome.wustl.edu	37	7	150718359	150718359	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr7:150718359C>A	ENST00000444312.1	-	5	954	c.92G>T	c.(91-93)tGg>tTg	p.W31L	ATG9B_ENST00000605952.1_Silent_p.L293L|ATG9B_ENST00000605938.1_Silent_p.L293L|ATG9B_ENST00000377974.2_Silent_p.L293L|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	0	Pro-rich.				autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTTGGACCAGCCAGAAGC	0.652																																						dbGAP											0													26.0	37.0	33.0					7																	150718359		1955	4148	6103	-	-	-	SO:0001583	missense	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000444312.1:c.92G>T	7.37:g.150718359C>A	ENSP00000473897:p.Trp31Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000444312.1	37	NULL		7	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854615	0.51376	.	.	ENSG00000248602	ENST00000444312	.	.	.	5.2	2.34	0.29019	.	.	.	.	.	T	0.49779	0.1577	.	.	.	.	.	.	.	.	.	.	.	.	T	0.57165	-0.7858	3	.	.	.	-11.2246	9.0884	0.36596	0.0:0.6455:0.2754:0.0791	.	.	.	.	L	31	.	.	W	-	2	0	AC010973.1	150349292	0.340000	0.24792	0.997000	0.53966	0.994000	0.84299	-0.018000	0.12568	0.560000	0.29169	0.655000	0.94253	TGG	ATG9B	-	-	ENSG00000181652		0.652	ATG9B-202	KNOWN	basic	protein_coding	ATG9B	HGNC	protein_coding		13	0.00	0	C	NM_173681		150718359	150718359	-1	no_errors	ENST00000377974	ensembl	human	known	69_37n	rna	12	25.00	4	SNP	1.000	A
ATG9B	285973	genome.wustl.edu	37	7	150718359	150718359	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr7:150718359C>A	ENST00000444312.1	-	5	954	c.92G>T	c.(91-93)tGg>tTg	p.W31L	ATG9B_ENST00000605952.1_Silent_p.L293L|ATG9B_ENST00000605938.1_Silent_p.L293L|ATG9B_ENST00000377974.2_Silent_p.L293L|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	0	Pro-rich.				autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTTGGACCAGCCAGAAGC	0.652																																						dbGAP											0													26.0	37.0	33.0					7																	150718359		1955	4148	6103	-	-	-	SO:0001583	missense	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000444312.1:c.92G>T	7.37:g.150718359C>A	ENSP00000473897:p.Trp31Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000444312.1	37	NULL		7	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854615	0.51376	.	.	ENSG00000248602	ENST00000444312	.	.	.	5.2	2.34	0.29019	.	.	.	.	.	T	0.49779	0.1577	.	.	.	.	.	.	.	.	.	.	.	.	T	0.57165	-0.7858	3	.	.	.	-11.2246	9.0884	0.36596	0.0:0.6455:0.2754:0.0791	.	.	.	.	L	31	.	.	W	-	2	0	AC010973.1	150349292	0.340000	0.24792	0.997000	0.53966	0.994000	0.84299	-0.018000	0.12568	0.560000	0.29169	0.655000	0.94253	TGG	ATG9B	-	-	ENSG00000181652		0.652	ATG9B-202	KNOWN	basic	protein_coding	ATG9B	HGNC	protein_coding		27	0.00	0	C	NM_173681		150718359	150718359	-1	no_errors	ENST00000377974	ensembl	human	known	69_37n	rna	12	25.00	4	SNP	1.000	A
BAZ2B	29994	genome.wustl.edu	37	2	160317645	160317645	+	Intron	DEL	T	T	-	rs532390970		TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr2:160317645delT	ENST00000392783.2	-	4	641				BAZ2B_ENST00000355831.2_Intron|BAZ2B_ENST00000392782.1_Intron|BAZ2B_ENST00000483316.1_5'UTR|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CACAAACACGTTTTTTTTTTA	0.353																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.146-7333A>-	2.37:g.160317645delT		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	RNA	DEL	-	NULL	ENST00000392783.2	37	NULL	CCDS2209.2	2																																																																																			BAZ2B	-	-	ENSG00000123636		0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	15	0.00	0	T			160317645	160317645	-1	no_errors	ENST00000483316	ensembl	human	known	69_37n	rna	15	16.67	3	DEL	0.155	-
BDP1	55814	genome.wustl.edu	37	5	70782424	70782424	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr5:70782424A>G	ENST00000358731.4	+	9	1446	c.1183A>G	c.(1183-1185)Aaa>Gaa	p.K395E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	395	Required for phosphorylation by CSNK2A1.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAGGAGAAGAAATCCACCAA	0.318																																						dbGAP											0													61.0	58.0	59.0					5																	70782424		1800	4071	5871	-	-	-	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1183A>G	5.37:g.70782424A>G	ENSP00000351575:p.Lys395Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.K395E	ENST00000358731.4	37	c.1183	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354418	0.61293	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.04234	3.67	4.82	3.65	0.41850	.	0.303483	0.31922	N	0.006853	T	0.13927	0.0337	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.976	D;D;P	0.80764	0.994;0.994;0.77	T	0.02126	-1.1209	10	0.33940	T	0.23	.	8.0892	0.30790	0.9046:0.0:0.0954:0.0	.	395;395;395	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	E	395	ENSP00000351575:K395E	ENSP00000351575:K395E	K	+	1	0	BDP1	70818180	0.998000	0.40836	0.934000	0.37439	0.833000	0.47200	1.045000	0.30341	0.691000	0.31592	0.383000	0.25322	AAA	BDP1	-	NULL	ENSG00000145734		0.318	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	34	0.00	0	A	NM_018429		70782424	70782424	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	missense	45	13.46	7	SNP	0.991	G
BDP1	55814	genome.wustl.edu	37	5	70782424	70782424	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr5:70782424A>G	ENST00000358731.4	+	9	1446	c.1183A>G	c.(1183-1185)Aaa>Gaa	p.K395E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	395	Required for phosphorylation by CSNK2A1.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAGGAGAAGAAATCCACCAA	0.318																																						dbGAP											0													61.0	58.0	59.0					5																	70782424		1800	4071	5871	-	-	-	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1183A>G	5.37:g.70782424A>G	ENSP00000351575:p.Lys395Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.K395E	ENST00000358731.4	37	c.1183	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354418	0.61293	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.04234	3.67	4.82	3.65	0.41850	.	0.303483	0.31922	N	0.006853	T	0.13927	0.0337	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.976	D;D;P	0.80764	0.994;0.994;0.77	T	0.02126	-1.1209	10	0.33940	T	0.23	.	8.0892	0.30790	0.9046:0.0:0.0954:0.0	.	395;395;395	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	E	395	ENSP00000351575:K395E	ENSP00000351575:K395E	K	+	1	0	BDP1	70818180	0.998000	0.40836	0.934000	0.37439	0.833000	0.47200	1.045000	0.30341	0.691000	0.31592	0.383000	0.25322	AAA	BDP1	-	NULL	ENSG00000145734		0.318	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	165	0.00	0	A	NM_018429		70782424	70782424	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	missense	141	10.19	16	SNP	0.991	G
BDP1	55814	genome.wustl.edu	37	5	70782424	70782424	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr5:70782424A>G	ENST00000358731.4	+	9	1446	c.1183A>G	c.(1183-1185)Aaa>Gaa	p.K395E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	395	Required for phosphorylation by CSNK2A1.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAGGAGAAGAAATCCACCAA	0.318																																						dbGAP											0													61.0	58.0	59.0					5																	70782424		1800	4071	5871	-	-	-	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1183A>G	5.37:g.70782424A>G	ENSP00000351575:p.Lys395Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.K395E	ENST00000358731.4	37	c.1183	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354418	0.61293	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.04234	3.67	4.82	3.65	0.41850	.	0.303483	0.31922	N	0.006853	T	0.13927	0.0337	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.976	D;D;P	0.80764	0.994;0.994;0.77	T	0.02126	-1.1209	10	0.33940	T	0.23	.	8.0892	0.30790	0.9046:0.0:0.0954:0.0	.	395;395;395	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	E	395	ENSP00000351575:K395E	ENSP00000351575:K395E	K	+	1	0	BDP1	70818180	0.998000	0.40836	0.934000	0.37439	0.833000	0.47200	1.045000	0.30341	0.691000	0.31592	0.383000	0.25322	AAA	BDP1	-	NULL	ENSG00000145734		0.318	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	106	0.00	0	A	NM_018429		70782424	70782424	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	missense	141	10.19	16	SNP	0.991	G
C10orf99	387695	genome.wustl.edu	37	10	85944486	85944486	+	Silent	SNP	C	C	A			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr10:85944486C>A	ENST00000372126.3	+	3	324	c.210C>A	c.(208-210)cgC>cgA	p.R70R	C10orf99_ENST00000472542.1_Intron	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	70						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CAGAGCCCCGCCTTTGGGTGG	0.582																																						dbGAP											0													80.0	73.0	76.0					10																	85944486		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.210C>A	10.37:g.85944486C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.R70	ENST00000372126.3	37	c.210	CCDS7371.1	10																																																																																			C10orf99	-	NULL	ENSG00000188373		0.582	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf99	HGNC	protein_coding	OTTHUMT00000049114.1	38	0.00	0	C	NM_207373		85944486	85944486	+1	no_errors	ENST00000372126	ensembl	human	known	69_37n	silent	36	10.00	4	SNP	0.000	A
LSMEM1	286006	genome.wustl.edu	37	7	112124979	112124979	+	Silent	SNP	C	C	G	rs192102447		TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr7:112124979C>G	ENST00000312849.4	+	2	469	c.108C>G	c.(106-108)gcC>gcG	p.A36A	LSMEM1_ENST00000439068.2_Silent_p.A36A|LSMEM1_ENST00000429049.1_Silent_p.A36A	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	36						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TCTGTCCAGCCGGATCGCAGC	0.483																																						dbGAP											0													122.0	116.0	118.0					7																	112124979		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.108C>G	7.37:g.112124979C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AR6	Silent	SNP	NULL	p.A36	ENST00000312849.4	37	c.108	CCDS5756.1	7																																																																																			C7orf53	-	NULL	ENSG00000181016		0.483	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf53	HGNC	protein_coding	OTTHUMT00000338716.2	19	0.00	0	C	NM_182597		112124979	112124979	+1	no_errors	ENST00000312849	ensembl	human	known	69_37n	silent	41	19.61	10	SNP	0.000	G
LSMEM1	286006	genome.wustl.edu	37	7	112124979	112124979	+	Silent	SNP	C	C	G	rs192102447		TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr7:112124979C>G	ENST00000312849.4	+	2	469	c.108C>G	c.(106-108)gcC>gcG	p.A36A	LSMEM1_ENST00000439068.2_Silent_p.A36A|LSMEM1_ENST00000429049.1_Silent_p.A36A	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	36						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TCTGTCCAGCCGGATCGCAGC	0.483																																						dbGAP											0													122.0	116.0	118.0					7																	112124979		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.108C>G	7.37:g.112124979C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AR6	Silent	SNP	NULL	p.A36	ENST00000312849.4	37	c.108	CCDS5756.1	7																																																																																			C7orf53	-	NULL	ENSG00000181016		0.483	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf53	HGNC	protein_coding	OTTHUMT00000338716.2	158	0.00	0	C	NM_182597		112124979	112124979	+1	no_errors	ENST00000312849	ensembl	human	known	69_37n	silent	176	23.14	53	SNP	0.000	G
LSMEM1	286006	genome.wustl.edu	37	7	112124979	112124979	+	Silent	SNP	C	C	G	rs192102447		TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr7:112124979C>G	ENST00000312849.4	+	2	469	c.108C>G	c.(106-108)gcC>gcG	p.A36A	LSMEM1_ENST00000439068.2_Silent_p.A36A|LSMEM1_ENST00000429049.1_Silent_p.A36A	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	36						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TCTGTCCAGCCGGATCGCAGC	0.483																																						dbGAP											0													122.0	116.0	118.0					7																	112124979		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.108C>G	7.37:g.112124979C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AR6	Silent	SNP	NULL	p.A36	ENST00000312849.4	37	c.108	CCDS5756.1	7																																																																																			C7orf53	-	NULL	ENSG00000181016		0.483	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf53	HGNC	protein_coding	OTTHUMT00000338716.2	188	0.00	0	C	NM_182597		112124979	112124979	+1	no_errors	ENST00000312849	ensembl	human	known	69_37n	silent	176	23.14	53	SNP	0.000	G
CCKBR	887	genome.wustl.edu	37	11	6291530	6291530	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr11:6291530G>A	ENST00000334619.2	+	3	809	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	CCKBR_ENST00000532715.1_Missense_Mutation_p.V122M|CCKBR_ENST00000525462.1_Missense_Mutation_p.V206M	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	206					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGCAGTGCGTGCATCGCTG	0.587																																						dbGAP											0													86.0	83.0	84.0					11																	6291530		2201	4295	6496	-	-	-	SO:0001583	missense	0			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.616G>A	11.37:g.6291530G>A	ENSP00000335544:p.Val206Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.V206M	ENST00000334619.2	37	c.616	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733736	0.30684	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.38240	1.15;1.15;1.15	5.33	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.590783	0.17711	N	0.164594	T	0.14356	0.0347	N	0.17345	0.48	0.09310	N	1	P;B;B	0.34864	0.473;0.003;0.015	B;B;B	0.22753	0.041;0.003;0.01	T	0.14559	-1.0468	10	0.30078	T	0.28	.	5.3584	0.16073	0.4203:0.2597:0.3201:0.0	.	206;140;206	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	M	206;122;206	ENSP00000335544:V206M;ENSP00000432079:V122M;ENSP00000435534:V206M	ENSP00000335544:V206M	V	+	1	0	CCKBR	6248106	0.000000	0.05858	0.628000	0.29241	0.915000	0.54546	-0.130000	0.10498	-0.048000	0.13401	-0.136000	0.14681	GTG	CCKBR	-	pfam_7TM_GPCR_Rhodpsn,prints_Gastrin_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000110148		0.587	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	28	0.00	0	G	NM_176875		6291530	6291530	+1	no_errors	ENST00000525462	ensembl	human	known	69_37n	missense	20	35.48	11	SNP	0.421	A
CCKBR	887	genome.wustl.edu	37	11	6291530	6291530	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr11:6291530G>A	ENST00000334619.2	+	3	809	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	CCKBR_ENST00000532715.1_Missense_Mutation_p.V122M|CCKBR_ENST00000525462.1_Missense_Mutation_p.V206M	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	206					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGCAGTGCGTGCATCGCTG	0.587																																						dbGAP											0													86.0	83.0	84.0					11																	6291530		2201	4295	6496	-	-	-	SO:0001583	missense	0			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.616G>A	11.37:g.6291530G>A	ENSP00000335544:p.Val206Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.V206M	ENST00000334619.2	37	c.616	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733736	0.30684	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.38240	1.15;1.15;1.15	5.33	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.590783	0.17711	N	0.164594	T	0.14356	0.0347	N	0.17345	0.48	0.09310	N	1	P;B;B	0.34864	0.473;0.003;0.015	B;B;B	0.22753	0.041;0.003;0.01	T	0.14559	-1.0468	10	0.30078	T	0.28	.	5.3584	0.16073	0.4203:0.2597:0.3201:0.0	.	206;140;206	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	M	206;122;206	ENSP00000335544:V206M;ENSP00000432079:V122M;ENSP00000435534:V206M	ENSP00000335544:V206M	V	+	1	0	CCKBR	6248106	0.000000	0.05858	0.628000	0.29241	0.915000	0.54546	-0.130000	0.10498	-0.048000	0.13401	-0.136000	0.14681	GTG	CCKBR	-	pfam_7TM_GPCR_Rhodpsn,prints_Gastrin_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000110148		0.587	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	99	0.00	0	G	NM_176875		6291530	6291530	+1	no_errors	ENST00000525462	ensembl	human	known	69_37n	missense	62	35.71	35	SNP	0.421	A
CCKBR	887	genome.wustl.edu	37	11	6291530	6291530	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr11:6291530G>A	ENST00000334619.2	+	3	809	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	CCKBR_ENST00000532715.1_Missense_Mutation_p.V122M|CCKBR_ENST00000525462.1_Missense_Mutation_p.V206M	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	206					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGCAGTGCGTGCATCGCTG	0.587																																						dbGAP											0													86.0	83.0	84.0					11																	6291530		2201	4295	6496	-	-	-	SO:0001583	missense	0			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.616G>A	11.37:g.6291530G>A	ENSP00000335544:p.Val206Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.V206M	ENST00000334619.2	37	c.616	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733736	0.30684	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.38240	1.15;1.15;1.15	5.33	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.590783	0.17711	N	0.164594	T	0.14356	0.0347	N	0.17345	0.48	0.09310	N	1	P;B;B	0.34864	0.473;0.003;0.015	B;B;B	0.22753	0.041;0.003;0.01	T	0.14559	-1.0468	10	0.30078	T	0.28	.	5.3584	0.16073	0.4203:0.2597:0.3201:0.0	.	206;140;206	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	M	206;122;206	ENSP00000335544:V206M;ENSP00000432079:V122M;ENSP00000435534:V206M	ENSP00000335544:V206M	V	+	1	0	CCKBR	6248106	0.000000	0.05858	0.628000	0.29241	0.915000	0.54546	-0.130000	0.10498	-0.048000	0.13401	-0.136000	0.14681	GTG	CCKBR	-	pfam_7TM_GPCR_Rhodpsn,prints_Gastrin_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000110148		0.587	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	136	0.00	0	G	NM_176875		6291530	6291530	+1	no_errors	ENST00000525462	ensembl	human	known	69_37n	missense	62	35.71	35	SNP	0.421	A
CD163L1	283316	genome.wustl.edu	37	12	7527952	7527952	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr12:7527952G>T	ENST00000313599.3	-	11	2983	c.2926C>A	c.(2926-2928)Ctg>Atg	p.L976M	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.L986M|CD163L1_ENST00000396630.1_Missense_Mutation_p.L976M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	976	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L976L(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGTTATCCAGAAGTGACTCA	0.443																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											99.0	86.0	90.0					12																	7527952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2926C>A	12.37:g.7527952G>T	ENSP00000315945:p.Leu976Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.L976M	ENST00000313599.3	37	c.2926	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409477	0.42715	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.59224	0.28;0.28;0.28	2.29	-3.44	0.04796	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.39985	U	0.001202	T	0.71350	0.3329	H	0.95294	3.65	0.09310	N	1	P;P	0.46277	0.875;0.587	P;P	0.51895	0.683;0.591	T	0.68070	-0.5506	10	0.51188	T	0.08	.	10.0333	0.42114	0.0:0.0:0.3424:0.6576	.	986;976	E7EVK4;Q9NR16	.;C163B_HUMAN	M	976;986;976	ENSP00000315945:L976M;ENSP00000393474:L986M;ENSP00000379871:L976M	ENSP00000315945:L976M	L	-	1	2	CD163L1	7419219	0.000000	0.05858	0.000000	0.03702	0.598000	0.36846	-3.320000	0.00513	-0.852000	0.04141	0.455000	0.32223	CTG	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	59	0.00	0	G	NM_174941		7527952	7527952	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	49	33.78	25	SNP	0.015	T
CD163L1	283316	genome.wustl.edu	37	12	7527952	7527952	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr12:7527952G>T	ENST00000313599.3	-	11	2983	c.2926C>A	c.(2926-2928)Ctg>Atg	p.L976M	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.L986M|CD163L1_ENST00000396630.1_Missense_Mutation_p.L976M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	976	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L976L(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGTTATCCAGAAGTGACTCA	0.443																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											99.0	86.0	90.0					12																	7527952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2926C>A	12.37:g.7527952G>T	ENSP00000315945:p.Leu976Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.L976M	ENST00000313599.3	37	c.2926	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409477	0.42715	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.59224	0.28;0.28;0.28	2.29	-3.44	0.04796	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.39985	U	0.001202	T	0.71350	0.3329	H	0.95294	3.65	0.09310	N	1	P;P	0.46277	0.875;0.587	P;P	0.51895	0.683;0.591	T	0.68070	-0.5506	10	0.51188	T	0.08	.	10.0333	0.42114	0.0:0.0:0.3424:0.6576	.	986;976	E7EVK4;Q9NR16	.;C163B_HUMAN	M	976;986;976	ENSP00000315945:L976M;ENSP00000393474:L986M;ENSP00000379871:L976M	ENSP00000315945:L976M	L	-	1	2	CD163L1	7419219	0.000000	0.05858	0.000000	0.03702	0.598000	0.36846	-3.320000	0.00513	-0.852000	0.04141	0.455000	0.32223	CTG	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	197	0.00	0	G	NM_174941		7527952	7527952	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	113	27.67	44	SNP	0.015	T
CD163L1	283316	genome.wustl.edu	37	12	7527952	7527952	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr12:7527952G>T	ENST00000313599.3	-	11	2983	c.2926C>A	c.(2926-2928)Ctg>Atg	p.L976M	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.L986M|CD163L1_ENST00000396630.1_Missense_Mutation_p.L976M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	976	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L976L(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGTTATCCAGAAGTGACTCA	0.443																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											99.0	86.0	90.0					12																	7527952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2926C>A	12.37:g.7527952G>T	ENSP00000315945:p.Leu976Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.L976M	ENST00000313599.3	37	c.2926	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409477	0.42715	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.59224	0.28;0.28;0.28	2.29	-3.44	0.04796	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.39985	U	0.001202	T	0.71350	0.3329	H	0.95294	3.65	0.09310	N	1	P;P	0.46277	0.875;0.587	P;P	0.51895	0.683;0.591	T	0.68070	-0.5506	10	0.51188	T	0.08	.	10.0333	0.42114	0.0:0.0:0.3424:0.6576	.	986;976	E7EVK4;Q9NR16	.;C163B_HUMAN	M	976;986;976	ENSP00000315945:L976M;ENSP00000393474:L986M;ENSP00000379871:L976M	ENSP00000315945:L976M	L	-	1	2	CD163L1	7419219	0.000000	0.05858	0.000000	0.03702	0.598000	0.36846	-3.320000	0.00513	-0.852000	0.04141	0.455000	0.32223	CTG	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	197	0.00	0	G	NM_174941		7527952	7527952	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	113	27.67	44	SNP	0.015	T
CEACAM20	125931	genome.wustl.edu	37	19	45010264	45010264	+	RNA	SNP	C	C	G			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr19:45010264C>G	ENST00000454753.1	-	0	2017							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GATTCACAAGCTCCTGTTAAA	0.478																																						dbGAP											0													94.0	93.0	93.0					19																	45010264		1913	4113	6026	-	-	-			0			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45010264C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-	ENSG00000176395		0.478	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	81	0.00	0	C	NM_198444		45010264	45010264	-1	no_errors	ENST00000412211	ensembl	human	known	69_37n	rna	69	22.47	20	SNP	0.000	G
CEACAM20	125931	genome.wustl.edu	37	19	45010264	45010264	+	RNA	SNP	C	C	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr19:45010264C>G	ENST00000454753.1	-	0	2017							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GATTCACAAGCTCCTGTTAAA	0.478																																						dbGAP											0													94.0	93.0	93.0					19																	45010264		1913	4113	6026	-	-	-			0			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45010264C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-	ENSG00000176395		0.478	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	34	0.00	0	C	NM_198444		45010264	45010264	-1	no_errors	ENST00000412211	ensembl	human	known	69_37n	rna	55	19.12	13	SNP	0.000	G
EHD1	10938	genome.wustl.edu	37	11	64627723	64627723	+	Silent	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr11:64627723G>A	ENST00000320631.3	-	3	842	c.588C>T	c.(586-588)atC>atT	p.I196I	EHD1_ENST00000359393.2_Silent_p.I196I	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	196	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						ACTCATCGGAGATGTCCAGCT	0.572																																						dbGAP											0													74.0	67.0	69.0					11																	64627723		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.588C>T	11.37:g.64627723G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.I196	ENST00000320631.3	37	c.588	CCDS8084.1	11																																																																																			EHD1	-	pfam_Dynamin_GTPase	ENSG00000110047		0.572	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	27	0.00	0	G	NM_006795		64627723	64627723	-1	no_errors	ENST00000320631	ensembl	human	known	69_37n	silent	24	61.90	39	SNP	1.000	A
EHD1	10938	genome.wustl.edu	37	11	64627723	64627723	+	Silent	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr11:64627723G>A	ENST00000320631.3	-	3	842	c.588C>T	c.(586-588)atC>atT	p.I196I	EHD1_ENST00000359393.2_Silent_p.I196I	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	196	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						ACTCATCGGAGATGTCCAGCT	0.572																																						dbGAP											0													74.0	67.0	69.0					11																	64627723		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.588C>T	11.37:g.64627723G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.I196	ENST00000320631.3	37	c.588	CCDS8084.1	11																																																																																			EHD1	-	pfam_Dynamin_GTPase	ENSG00000110047		0.572	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	36	0.00	0	G	NM_006795		64627723	64627723	-1	no_errors	ENST00000320631	ensembl	human	known	69_37n	silent	24	61.90	39	SNP	1.000	A
EMD	2010	genome.wustl.edu	37	X	153609522	153609523	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chrX:153609522_153609523insT	ENST00000369842.4	+	6	1018_1019	c.730_731insT	c.(730-732)cacfs	p.H244fs	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Frame_Shift_Ins_p.H209fs	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	244					cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCATTTACCACTTCATGCAG	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	Exception_encountered	X.37:g.153609522_153609523insT	ENSP00000358857:p.His244fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI02	Frame_Shift_Ins	INS	pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM	p.H244fs	ENST00000369842.4	37	c.730_731	CCDS14745.1	X																																																																																			EMD	-	NULL	ENSG00000102119		0.594	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMD	HGNC	protein_coding	OTTHUMT00000080921.1	12	0.00	0	-			153609522	153609523	+1	no_errors	ENST00000369842	ensembl	human	known	69_37n	frame_shift_ins	9	30.77	4	INS	0.519:0.441	T
EMD	2010	genome.wustl.edu	37	X	153609522	153609523	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chrX:153609522_153609523insT	ENST00000369842.4	+	6	1018_1019	c.730_731insT	c.(730-732)cacfs	p.H244fs	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Frame_Shift_Ins_p.H209fs	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	244					cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCATTTACCACTTCATGCAG	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	Exception_encountered	X.37:g.153609522_153609523insT	ENSP00000358857:p.His244fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI02	Frame_Shift_Ins	INS	pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM	p.H244fs	ENST00000369842.4	37	c.730_731	CCDS14745.1	X																																																																																			EMD	-	NULL	ENSG00000102119		0.594	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMD	HGNC	protein_coding	OTTHUMT00000080921.1	20	0.00	0	-			153609522	153609523	+1	no_errors	ENST00000369842	ensembl	human	known	69_37n	frame_shift_ins	9	30.77	4	INS	0.519:0.441	T
ESPNP	284729	genome.wustl.edu	37	1	17023376	17023376	+	RNA	SNP	C	C	T	rs613579	byFrequency	TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr1:17023376C>T	ENST00000492551.1	-	0	1571					NR_026567.1				espin pseudogene																		CCAGTAGCTCCGAGTTGTCGC	0.617													c|||	1978	0.394968	0.2474	0.415	5008	,	,		39011	0.497		0.4264	False		,,,				2504	0.4427					dbGAP											0																																										-	-	-			0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023376C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-	ENSG00000116219		0.617	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	95	0.00	0	C			17023376	17023376	-1	no_errors	ENST00000492551	ensembl	human	known	69_37n	rna	1	80.00	4	SNP	0.527	T
AMER3	205147	genome.wustl.edu	37	2	131519952	131519953	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr2:131519952_131519953insG	ENST00000423981.1	+	2	417_418	c.307_308insG	c.(307-309)aggfs	p.R103fs	AMER3_ENST00000321420.4_Frame_Shift_Ins_p.R103fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	103					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TGGGGCAGGCAGGGCCACGGCT	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.310dupG	2.37:g.131519955_131519955dupG	ENSP00000392700:p.Arg103fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLH6	Frame_Shift_Ins	INS	pfam_Uncharacterised_FAM123	p.A104fs	ENST00000423981.1	37	c.307_308	CCDS2164.1	2																																																																																			FAM123C	-	pfam_Uncharacterised_FAM123	ENSG00000178171		0.673	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	15	0.00	0	-	NM_152698		131519952	131519953	+1	no_errors	ENST00000321420	ensembl	human	known	69_37n	frame_shift_ins	2	60.00	3	INS	0.014:0.000	G
AMER3	205147	genome.wustl.edu	37	2	131519952	131519953	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr2:131519952_131519953insG	ENST00000423981.1	+	2	417_418	c.307_308insG	c.(307-309)aggfs	p.R103fs	AMER3_ENST00000321420.4_Frame_Shift_Ins_p.R103fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	103					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TGGGGCAGGCAGGGCCACGGCT	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.310dupG	2.37:g.131519955_131519955dupG	ENSP00000392700:p.Arg103fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLH6	Frame_Shift_Ins	INS	pfam_Uncharacterised_FAM123	p.A104fs	ENST00000423981.1	37	c.307_308	CCDS2164.1	2																																																																																			FAM123C	-	pfam_Uncharacterised_FAM123	ENSG00000178171		0.673	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	9	0.00	0	-	NM_152698		131519952	131519953	+1	no_errors	ENST00000321420	ensembl	human	known	69_37n	frame_shift_ins	2	60.00	3	INS	0.014:0.000	G
NUTM2D	728130	genome.wustl.edu	37	10	89124859	89124859	+	Missense_Mutation	SNP	G	G	A	rs201741914	byFrequency	TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr10:89124859G>A	ENST00000381697.2	+	5	2015	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S	NUTM2D_ENST00000412718.1_Missense_Mutation_p.G473S			Q5VT03	NTM2D_HUMAN	NUT family member 2D	473																	ACGGGAAGAGGGCGAAGTGAA	0.612													g|||	3013	0.601637	0.5484	0.6455	5008	,	,		9951	0.8482		0.4881	False		,,,				2504	0.5051					dbGAP											0													6.0	12.0	10.0					10																	89124859		1408	2921	4329	-	-	-	SO:0001583	missense	0					10q23.31	2013-03-14	2013-03-14	2013-03-14	ENSG00000214562	ENSG00000214562			23447	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member D"""	FAM22D			Standard	NR_075100		Approved		uc001kes.3	Q5VT03	OTTHUMG00000018672	ENST00000381697.2:c.1417G>A	10.37:g.89124859G>A	ENSP00000371116:p.Gly473Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGV9	Missense_Mutation	SNP	NULL	p.G473S	ENST00000381697.2	37	c.1417		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.676|9.676	1.148030|1.148030	0.21288|0.21288	.|.	.|.	ENSG00000214562|ENSG00000214562	ENST00000451669|ENST00000330762;ENST00000381697;ENST00000381691;ENST00000412718	.|T;T	.|0.24723	.|2.64;1.84	0.628|0.628	0.628|0.628	0.17681|0.17681	.|Nuclear Testis protein, C-terminal (1);	1.216050|1.216050	0.05733|0.05733	N|N	0.599879|0.599879	T|T	0.32941|0.32941	0.0846|0.0846	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|P;P	.|0.49783	.|0.454;0.928	.|B;P	.|0.54346	.|0.381;0.749	T|T	0.40997|0.40997	-0.9533|-0.9533	3|7	.|0.23302	.|T	.|0.38	.|.	.|.	.|.	.|.	.|.	.|473;473	.|Q5VT03-2;Q5VT03	.|.;FA22D_HUMAN	E|S	11|544;473;22;473	.|ENSP00000371116:G473S;ENSP00000396080:G473S	.|ENSP00000328439:G544S	G|G	+|+	2|1	0|0	FAM22D|FAM22D	89114839|89114839	0.004000|0.004000	0.15560|0.15560	0.001000|0.001000	0.08648|0.08648	0.242000|0.242000	0.25591|0.25591	1.915000|1.915000	0.39976|0.39976	0.605000|0.605000	0.29947|0.29947	0.195000|0.195000	0.17529|0.17529	GGG|GGC	FAM22D	-	NULL	ENSG00000214562		0.612	NUTM2D-004	KNOWN	basic|appris_candidate_longest	protein_coding	FAM22D	HGNC	protein_coding	OTTHUMT00000470142.1	9	0.00	0	G	NR_075100		89124859	89124859	+1	no_errors	ENST00000381697	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	0.001	A
FBN3	84467	genome.wustl.edu	37	19	8130997	8130997	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr19:8130997C>T	ENST00000600128.1	-	64	8650	c.8236G>A	c.(8236-8238)Gag>Aag	p.E2746K	FBN3_ENST00000601739.1_Missense_Mutation_p.E2746K|FBN3_ENST00000270509.2_Missense_Mutation_p.E2746K			Q75N90	FBN3_HUMAN	fibrillin 3	2746						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAACCTTGCTCGTTTCCGCGG	0.687																																						dbGAP											0													62.0	62.0	62.0					19																	8130997		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8236G>A	19.37:g.8130997C>T	ENSP00000470498:p.Glu2746Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.E2746K	ENST00000600128.1	37	c.8236	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210834	0.22289	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87650	-2.28	4.66	-1.83	0.07833	.	0.311639	0.29486	N	0.012006	T	0.76133	0.3945	L	0.40543	1.245	0.09310	N	1	B;B	0.21147	0.052;0.033	B;B	0.11329	0.006;0.006	T	0.62115	-0.6922	10	0.44086	T	0.13	.	5.2916	0.15729	0.0:0.4893:0.2729:0.2378	.	2746;809	Q75N90;Q6ZNB8	FBN3_HUMAN;.	K	2746;809	ENSP00000270509:E2746K	ENSP00000270509:E2746K	E	-	1	0	FBN3	8036997	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.244000	0.08903	-0.395000	0.07715	-1.031000	0.02408	GAG	FBN3	-	pirsf_Fibrillin	ENSG00000142449		0.687	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	29	0.00	0	C	NM_032447		8130997	8130997	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	missense	19	61.22	30	SNP	0.001	T
FBN3	84467	genome.wustl.edu	37	19	8130997	8130997	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr19:8130997C>T	ENST00000600128.1	-	64	8650	c.8236G>A	c.(8236-8238)Gag>Aag	p.E2746K	FBN3_ENST00000601739.1_Missense_Mutation_p.E2746K|FBN3_ENST00000270509.2_Missense_Mutation_p.E2746K			Q75N90	FBN3_HUMAN	fibrillin 3	2746						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAACCTTGCTCGTTTCCGCGG	0.687																																						dbGAP											0													62.0	62.0	62.0					19																	8130997		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8236G>A	19.37:g.8130997C>T	ENSP00000470498:p.Glu2746Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.E2746K	ENST00000600128.1	37	c.8236	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210834	0.22289	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87650	-2.28	4.66	-1.83	0.07833	.	0.311639	0.29486	N	0.012006	T	0.76133	0.3945	L	0.40543	1.245	0.09310	N	1	B;B	0.21147	0.052;0.033	B;B	0.11329	0.006;0.006	T	0.62115	-0.6922	10	0.44086	T	0.13	.	5.2916	0.15729	0.0:0.4893:0.2729:0.2378	.	2746;809	Q75N90;Q6ZNB8	FBN3_HUMAN;.	K	2746;809	ENSP00000270509:E2746K	ENSP00000270509:E2746K	E	-	1	0	FBN3	8036997	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.244000	0.08903	-0.395000	0.07715	-1.031000	0.02408	GAG	FBN3	-	pirsf_Fibrillin	ENSG00000142449		0.687	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	10	0.00	0	C	NM_032447		8130997	8130997	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	0.001	T
FBN3	84467	genome.wustl.edu	37	19	8130997	8130997	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr19:8130997C>T	ENST00000600128.1	-	64	8650	c.8236G>A	c.(8236-8238)Gag>Aag	p.E2746K	FBN3_ENST00000601739.1_Missense_Mutation_p.E2746K|FBN3_ENST00000270509.2_Missense_Mutation_p.E2746K			Q75N90	FBN3_HUMAN	fibrillin 3	2746						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAACCTTGCTCGTTTCCGCGG	0.687																																						dbGAP											0													62.0	62.0	62.0					19																	8130997		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8236G>A	19.37:g.8130997C>T	ENSP00000470498:p.Glu2746Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.E2746K	ENST00000600128.1	37	c.8236	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210834	0.22289	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87650	-2.28	4.66	-1.83	0.07833	.	0.311639	0.29486	N	0.012006	T	0.76133	0.3945	L	0.40543	1.245	0.09310	N	1	B;B	0.21147	0.052;0.033	B;B	0.11329	0.006;0.006	T	0.62115	-0.6922	10	0.44086	T	0.13	.	5.2916	0.15729	0.0:0.4893:0.2729:0.2378	.	2746;809	Q75N90;Q6ZNB8	FBN3_HUMAN;.	K	2746;809	ENSP00000270509:E2746K	ENSP00000270509:E2746K	E	-	1	0	FBN3	8036997	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.244000	0.08903	-0.395000	0.07715	-1.031000	0.02408	GAG	FBN3	-	pirsf_Fibrillin	ENSG00000142449		0.687	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	37	0.00	0	C	NM_032447		8130997	8130997	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	0.001	T
FLNA	2316	genome.wustl.edu	37	X	153592940	153592941	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chrX:153592940_153592941delAA	ENST00000369850.3	-	13	2211_2212	c.1975_1976delTT	c.(1975-1977)ttcfs	p.F659fs	FLNA_ENST00000422373.1_Frame_Shift_Del_p.F659fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.F659fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.F659fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	659					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCAGCCATGAAGGGGCTGAGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1975_1976delTT	X.37:g.153592940_153592941delAA	ENSP00000358866:p.Phe659fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.F659fs	ENST00000369850.3	37	c.1976_1975	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.629	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	20	0.00	0	AA			153592940	153592941	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	frame_shift_del	16	61.36	27	DEL	1.000:1.000	-
FLNA	2316	genome.wustl.edu	37	X	153592940	153592941	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chrX:153592940_153592941delAA	ENST00000369850.3	-	13	2211_2212	c.1975_1976delTT	c.(1975-1977)ttcfs	p.F659fs	FLNA_ENST00000422373.1_Frame_Shift_Del_p.F659fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.F659fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.F659fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	659					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCAGCCATGAAGGGGCTGAGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1975_1976delTT	X.37:g.153592940_153592941delAA	ENSP00000358866:p.Phe659fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.F659fs	ENST00000369850.3	37	c.1976_1975	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.629	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	25	0.00	0	AA			153592940	153592941	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	frame_shift_del	16	61.36	27	DEL	1.000:1.000	-
FLNA	2316	genome.wustl.edu	37	X	153592945	153592946	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	GC	GC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chrX:153592945_153592946delGC	ENST00000369850.3	-	13	2206_2207	c.1970_1971delGC	c.(1969-1971)agcfs	p.S657fs	FLNA_ENST00000422373.1_Frame_Shift_Del_p.S657fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.S657fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.S657fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	657					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCATGAAGGGGCTGAGGCGGAT	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1970_1971delGC	X.37:g.153592945_153592946delGC	ENSP00000358866:p.Ser657fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S657fs	ENST00000369850.3	37	c.1971_1970	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.624	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	20	0.00	0	GC			153592945	153592946	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	frame_shift_del	15	64.29	27	DEL	0.996:1.000	-
FLNA	2316	genome.wustl.edu	37	X	153592945	153592946	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	GC	GC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chrX:153592945_153592946delGC	ENST00000369850.3	-	13	2206_2207	c.1970_1971delGC	c.(1969-1971)agcfs	p.S657fs	FLNA_ENST00000422373.1_Frame_Shift_Del_p.S657fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.S657fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.S657fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	657					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCATGAAGGGGCTGAGGCGGAT	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1970_1971delGC	X.37:g.153592945_153592946delGC	ENSP00000358866:p.Ser657fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S657fs	ENST00000369850.3	37	c.1971_1970	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.624	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	24	0.00	0	GC			153592945	153592946	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	frame_shift_del	15	64.29	27	DEL	0.996:1.000	-
FOXD4L5	653427	genome.wustl.edu	37	9	70177573	70177573	+	Silent	SNP	G	G	A			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr9:70177573G>A	ENST00000377420.1	-	1	1242	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	137					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						GGCCACTAATGAAGGCGCAGA	0.617																																						dbGAP											0													1.0	1.0	1.0					9																	70177573		26	104	130	-	-	-	SO:0001819	synonymous_variant	0				CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.411C>T	9.37:g.70177573G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F137	ENST00000377420.1	37	c.411	CCDS47977.1	9																																																																																			FOXD4L5	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000204779		0.617	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L5	HGNC	protein_coding	OTTHUMT00000037122.1	56	0.00	0	G	NM_001126334		70177573	70177573	-1	no_errors	ENST00000377420	ensembl	human	known	69_37n	silent	43	23.21	13	SNP	1.000	A
HFM1	164045	genome.wustl.edu	37	1	91731572	91731572	+	Splice_Site	SNP	G	G	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr1:91731572G>T	ENST00000370425.3	-	36	4073		c.e36+1		HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Intron|HFM1_ENST00000462405.1_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)						resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTAAAACTTGCCTGTTTGAC	0.378																																						dbGAP											0													166.0	151.0	155.0					1																	91731572		1833	4088	5921	-	-	-	SO:0001630	splice_region_variant	0			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3974+1C>A	1.37:g.91731572G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1B0B6|Q8N9Q0	Splice_Site	SNP	-	e35+2	ENST00000370425.3	37	c.3974+2	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268994	0.59540	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000430465	.	.	.	4.86	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2638	0.37627	0.1018:0.0:0.8982:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HFM1	91504160	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.293000	0.33353	1.157000	0.42530	0.655000	0.94253	.	HFM1	-	-	ENSG00000162669		0.378	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	57	0	0	G	NM_001017975	Intron	91731572	91731572	-1	no_errors	ENST00000370425	ensembl	human	known	69_37n	splice_site	34	12.82	5	SNP	1.000	T
HEATR1	55127	genome.wustl.edu	37	1	236715300	236715300	+	Splice_Site	SNP	T	T	G			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr1:236715300T>G	ENST00000366582.3	-	44	6459	c.6345A>C	c.(6343-6345)gaA>gaC	p.E2115D	LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Splice_Site_p.E2034D|RP11-385F5.4_ENST00000433131.1_RNA	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2115					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGGAATTACCTTCCATCAACT	0.348																																						dbGAP											0													131.0	132.0	132.0					1																	236715300		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6346+1A>C	1.37:g.236715300T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.E2115D	ENST00000366582.3	37	c.6345	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395610	0.83011	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65916	-0.18;-0.18	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.049413	0.85682	D	0.000000	T	0.80529	0.4640	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.82478	-0.0437	10	0.46703	T	0.11	.	14.985	0.71342	0.0:0.0:0.0:1.0	.	2034;2115	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	D	2115;2034	ENSP00000355541:E2115D;ENSP00000355540:E2034D	ENSP00000355540:E2034D	E	-	3	2	HEATR1	234781923	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.221000	0.58574	2.181000	0.69327	0.533000	0.62120	GAA	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.348	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	39	0.00	0	T	XM_375853	Missense_Mutation	236715300	236715300	-1	no_errors	ENST00000366582	ensembl	human	known	69_37n	missense	66	13.16	10	SNP	1.000	G
HEATR1	55127	genome.wustl.edu	37	1	236715300	236715300	+	Splice_Site	SNP	T	T	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr1:236715300T>G	ENST00000366582.3	-	44	6459	c.6345A>C	c.(6343-6345)gaA>gaC	p.E2115D	LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Splice_Site_p.E2034D|RP11-385F5.4_ENST00000433131.1_RNA	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2115					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGGAATTACCTTCCATCAACT	0.348																																						dbGAP											0													131.0	132.0	132.0					1																	236715300		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6346+1A>C	1.37:g.236715300T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.E2115D	ENST00000366582.3	37	c.6345	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395610	0.83011	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65916	-0.18;-0.18	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.049413	0.85682	D	0.000000	T	0.80529	0.4640	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.82478	-0.0437	10	0.46703	T	0.11	.	14.985	0.71342	0.0:0.0:0.0:1.0	.	2034;2115	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	D	2115;2034	ENSP00000355541:E2115D;ENSP00000355540:E2034D	ENSP00000355540:E2034D	E	-	3	2	HEATR1	234781923	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.221000	0.58574	2.181000	0.69327	0.533000	0.62120	GAA	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.348	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	287	0.00	0	T	XM_375853	Missense_Mutation	236715300	236715300	-1	no_errors	ENST00000366582	ensembl	human	known	69_37n	missense	336	16.17	65	SNP	1.000	G
HEATR1	55127	genome.wustl.edu	37	1	236715300	236715300	+	Splice_Site	SNP	T	T	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr1:236715300T>G	ENST00000366582.3	-	44	6459	c.6345A>C	c.(6343-6345)gaA>gaC	p.E2115D	LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Splice_Site_p.E2034D|RP11-385F5.4_ENST00000433131.1_RNA	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2115					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGGAATTACCTTCCATCAACT	0.348																																						dbGAP											0													131.0	132.0	132.0					1																	236715300		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6346+1A>C	1.37:g.236715300T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.E2115D	ENST00000366582.3	37	c.6345	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395610	0.83011	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65916	-0.18;-0.18	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.049413	0.85682	D	0.000000	T	0.80529	0.4640	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.82478	-0.0437	10	0.46703	T	0.11	.	14.985	0.71342	0.0:0.0:0.0:1.0	.	2034;2115	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	D	2115;2034	ENSP00000355541:E2115D;ENSP00000355540:E2034D	ENSP00000355540:E2034D	E	-	3	2	HEATR1	234781923	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.221000	0.58574	2.181000	0.69327	0.533000	0.62120	GAA	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.348	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	238	0.00	0	T	XM_375853	Missense_Mutation	236715300	236715300	-1	no_errors	ENST00000366582	ensembl	human	known	69_37n	missense	336	16.17	65	SNP	1.000	G
HIST1H2AH	85235	genome.wustl.edu	37	6	27115267	27115267	+	Silent	SNP	G	G	A			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr6:27115267G>A	ENST00000377459.1	+	1	407	c.360G>A	c.(358-360)aaG>aaA	p.K120K	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	120						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K120K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TGCCTAAGAAGACTGAGAGCC	0.522																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											62.0	64.0	63.0					6																	27115267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.360G>A	6.37:g.27115267G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K120	ENST00000377459.1	37	c.360	CCDS4622.1	6																																																																																			HIST1H2AH	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000184825		0.522	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	110	0.00	0	G	NM_080596		27115267	27115267	+1	no_errors	ENST00000377459	ensembl	human	known	69_37n	silent	69	25.81	24	SNP	1.000	A
HIST1H2AH	85235	genome.wustl.edu	37	6	27115267	27115267	+	Silent	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr6:27115267G>A	ENST00000377459.1	+	1	407	c.360G>A	c.(358-360)aaG>aaA	p.K120K	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	120						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K120K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TGCCTAAGAAGACTGAGAGCC	0.522																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											62.0	64.0	63.0					6																	27115267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.360G>A	6.37:g.27115267G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K120	ENST00000377459.1	37	c.360	CCDS4622.1	6																																																																																			HIST1H2AH	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000184825		0.522	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	74	0.00	0	G	NM_080596		27115267	27115267	+1	no_errors	ENST00000377459	ensembl	human	known	69_37n	silent	55	36.05	31	SNP	1.000	A
HIST1H2AH	85235	genome.wustl.edu	37	6	27115267	27115267	+	Silent	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr6:27115267G>A	ENST00000377459.1	+	1	407	c.360G>A	c.(358-360)aaG>aaA	p.K120K	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	120						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K120K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TGCCTAAGAAGACTGAGAGCC	0.522																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											62.0	64.0	63.0					6																	27115267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.360G>A	6.37:g.27115267G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K120	ENST00000377459.1	37	c.360	CCDS4622.1	6																																																																																			HIST1H2AH	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000184825		0.522	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	172	0.00	0	G	NM_080596		27115267	27115267	+1	no_errors	ENST00000377459	ensembl	human	known	69_37n	silent	55	36.05	31	SNP	1.000	A
HRNR	388697	genome.wustl.edu	37	1	152188847	152188847	+	Missense_Mutation	SNP	A	A	G	rs145667921		TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr1:152188847A>G	ENST00000368801.2	-	3	5333	c.5258T>C	c.(5257-5259)gTc>gCc	p.V1753A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1753					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCAAAGACAGAAGAGTG	0.562																																						dbGAP											0													1.0	1.0	1.0					1																	152188847		388	960	1348	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5258T>C	1.37:g.152188847A>G	ENSP00000357791:p.Val1753Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.V1753A	ENST00000368801.2	37	c.5258	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191978	0.38707	.	.	ENSG00000197915	ENST00000368801	T	0.01548	4.78	3.15	2.19	0.27852	.	.	.	.	.	T	0.00412	0.0013	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	9	0.07482	T	0.82	.	1.9459	0.03356	0.2121:0.4632:0.2061:0.1186	.	1753	Q86YZ3	HORN_HUMAN	A	1753	ENSP00000357791:V1753A	ENSP00000357791:V1753A	V	-	2	0	HRNR	150455471	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.214000	0.09292	0.170000	0.19704	-0.294000	0.09567	GTC	HRNR	-	NULL	ENSG00000197915		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	25	0.00	0	A	XM_373868		152188847	152188847	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	0.002	G
KDM2B	84678	genome.wustl.edu	37	12	121880537	121880538	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr12:121880537_121880538insG	ENST00000377071.4	-	19	2778_2779	c.2706_2707insC	c.(2704-2709)cccaagfs	p.K903fs	KDM2B_ENST00000542973.1_Frame_Shift_Ins_p.K271fs|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377069.4_Frame_Shift_Ins_p.K834fs	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	903					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCCTGGTCTTGGGGGGCGCCT	0.698																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2707dupC	12.37:g.121880543_121880543dupG	ENSP00000366271:p.Lys903fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Frame_Shift_Ins	INS	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.K902fs	ENST00000377071.4	37	c.2707_2706	CCDS41850.1	12																																																																																			KDM2B	-	NULL	ENSG00000089094		0.698	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	9	0.00	0	-	NM_032590		121880537	121880538	-1	no_errors	ENST00000377071	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.662:0.045	G
KDM2B	84678	genome.wustl.edu	37	12	121880537	121880538	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr12:121880537_121880538insG	ENST00000377071.4	-	19	2778_2779	c.2706_2707insC	c.(2704-2709)cccaagfs	p.K903fs	KDM2B_ENST00000542973.1_Frame_Shift_Ins_p.K271fs|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377069.4_Frame_Shift_Ins_p.K834fs	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	903					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCCTGGTCTTGGGGGGCGCCT	0.698																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2707dupC	12.37:g.121880543_121880543dupG	ENSP00000366271:p.Lys903fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Frame_Shift_Ins	INS	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.K902fs	ENST00000377071.4	37	c.2707_2706	CCDS41850.1	12																																																																																			KDM2B	-	NULL	ENSG00000089094		0.698	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	9	0.00	0	-	NM_032590		121880537	121880538	-1	no_errors	ENST00000377071	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.662:0.045	G
KIF24	347240	genome.wustl.edu	37	9	34257474	34257475	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr9:34257474_34257475insC	ENST00000402558.2	-	10	2154_2155	c.2130_2131insG	c.(2128-2133)cagccafs	p.P711fs	KIF24_ENST00000379166.2_Frame_Shift_Ins_p.P711fs|KIF24_ENST00000345050.2_Frame_Shift_Ins_p.P577fs|KIF24_ENST00000379174.3_Frame_Shift_Ins_p.P577fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	711					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTCTGTACTGGCTGCACTGTCT	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2131dupG	9.37:g.34257475_34257475dupC	ENSP00000384433:p.Pro711fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P710fs	ENST00000402558.2	37	c.2131_2130	CCDS6551.2	9																																																																																			KIF24	-	NULL	ENSG00000186638		0.574	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	259	0.00	0	-			34257474	34257475	-1	no_errors	ENST00000379166	ensembl	human	known	69_37n	frame_shift_ins	271	59.49	398	INS	1.000:1.000	C
KIF24	347240	genome.wustl.edu	37	9	34257474	34257475	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr9:34257474_34257475insC	ENST00000402558.2	-	10	2154_2155	c.2130_2131insG	c.(2128-2133)cagccafs	p.P711fs	KIF24_ENST00000379166.2_Frame_Shift_Ins_p.P711fs|KIF24_ENST00000345050.2_Frame_Shift_Ins_p.P577fs|KIF24_ENST00000379174.3_Frame_Shift_Ins_p.P577fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	711					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTCTGTACTGGCTGCACTGTCT	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2131dupG	9.37:g.34257475_34257475dupC	ENSP00000384433:p.Pro711fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P710fs	ENST00000402558.2	37	c.2131_2130	CCDS6551.2	9																																																																																			KIF24	-	NULL	ENSG00000186638		0.574	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	271	0.00	0	-			34257474	34257475	-1	no_errors	ENST00000379166	ensembl	human	known	69_37n	frame_shift_ins	271	59.49	398	INS	1.000:1.000	C
KLHL8	57563	genome.wustl.edu	37	4	88106756	88106756	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr4:88106756G>T	ENST00000273963.5	-	3	753	c.412C>A	c.(412-414)Cag>Aag	p.Q138K	KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.Q138K|KLHL8_ENST00000425278.2_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	138					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AAGAGAGGCTGGACATTGTCA	0.423																																						dbGAP											0													83.0	83.0	83.0					4																	88106756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.412C>A	4.37:g.88106756G>T	ENSP00000273963:p.Gln138Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q138K	ENST00000273963.5	37	c.412	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860565	0.91433	.	.	ENSG00000145332	ENST00000273963;ENST00000512111	T;T	0.67171	-0.25;-0.25	5.76	5.76	0.90799	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.77903	0.4200	L	0.49699	1.58	0.80722	D	1	D	0.61080	0.989	P	0.62298	0.9	T	0.78768	-0.2075	10	0.87932	D	0	.	19.964	0.97260	0.0:0.0:1.0:0.0	.	138	Q9P2G9	KLHL8_HUMAN	K	138	ENSP00000273963:Q138K;ENSP00000424131:Q138K	ENSP00000273963:Q138K	Q	-	1	0	KLHL8	88325780	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	9.803000	0.99136	2.710000	0.92621	0.655000	0.94253	CAG	KLHL8	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000145332		0.423	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	31	0.00	0	G			88106756	88106756	-1	no_errors	ENST00000273963	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	T
KRT25	147183	genome.wustl.edu	37	17	38907252	38907252	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr17:38907252C>A	ENST00000312150.4	-	5	971	c.911G>T	c.(910-912)cGc>cTc	p.R304L		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGAAGAGTGCGCTTCATTTC	0.473																																						dbGAP											0													124.0	122.0	123.0					17																	38907252		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.911G>T	17.37:g.38907252C>A	ENSP00000310573:p.Arg304Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.R304L	ENST00000312150.4	37	c.911	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826257	0.90955	.	.	ENSG00000204897	ENST00000312150	D	0.90197	-2.63	5.84	5.84	0.93424	Filament (1);	0.000000	0.64402	D	0.000005	D	0.96953	0.9005	H	0.97918	4.105	0.46113	D	0.998871	D	0.60575	0.988	P	0.57324	0.818	D	0.97885	1.0294	9	.	.	.	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	304	Q7Z3Z0	K1C25_HUMAN	L	304	ENSP00000310573:R304L	.	R	-	2	0	KRT25	36160778	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	3.708000	0.54845	2.758000	0.94735	0.655000	0.94253	CGC	KRT25	-	pfam_F	ENSG00000204897		0.473	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	163	0.00	0	C	NM_181534		38907252	38907252	-1	no_errors	ENST00000312150	ensembl	human	known	69_37n	missense	225	10.00	25	SNP	1.000	A
KRT25	147183	genome.wustl.edu	37	17	38907252	38907252	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr17:38907252C>A	ENST00000312150.4	-	5	971	c.911G>T	c.(910-912)cGc>cTc	p.R304L		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGAAGAGTGCGCTTCATTTC	0.473																																						dbGAP											0													124.0	122.0	123.0					17																	38907252		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.911G>T	17.37:g.38907252C>A	ENSP00000310573:p.Arg304Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.R304L	ENST00000312150.4	37	c.911	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826257	0.90955	.	.	ENSG00000204897	ENST00000312150	D	0.90197	-2.63	5.84	5.84	0.93424	Filament (1);	0.000000	0.64402	D	0.000005	D	0.96953	0.9005	H	0.97918	4.105	0.46113	D	0.998871	D	0.60575	0.988	P	0.57324	0.818	D	0.97885	1.0294	9	.	.	.	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	304	Q7Z3Z0	K1C25_HUMAN	L	304	ENSP00000310573:R304L	.	R	-	2	0	KRT25	36160778	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	3.708000	0.54845	2.758000	0.94735	0.655000	0.94253	CGC	KRT25	-	pfam_F	ENSG00000204897		0.473	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	167	0.00	0	C	NM_181534		38907252	38907252	-1	no_errors	ENST00000312150	ensembl	human	known	69_37n	missense	225	10.00	25	SNP	1.000	A
LCE3D	84648	genome.wustl.edu	37	1	152552176	152552176	+	Silent	SNP	G	G	A	rs61745173		TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr1:152552176G>A	ENST00000368787.3	-	2	293	c.237C>T	c.(235-237)ggC>ggT	p.G79G		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	79					keratinization (GO:0031424)					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CAGAGCCCCCGCCTTGCTGAC	0.642																																						dbGAP											0													60.0	72.0	68.0					1																	152552176		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BI670519	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202		"""Late cornified envelopes"""	16615	protein-coding gene	gene with protein product		612616	"""small proline rich-like (epidermal differentiation complex) 6B"""	SPRL6B, SPRL6A		11698679	Standard	NM_032563		Approved	LEP16	uc001fab.3	Q9BYE3	OTTHUMG00000012384	ENST00000368787.3:c.237C>T	1.37:g.152552176G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIL1	Silent	SNP	NULL	p.G79	ENST00000368787.3	37	c.237	CCDS1014.1	1																																																																																			LCE3D	-	NULL	ENSG00000163202		0.642	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE3D	HGNC	protein_coding	OTTHUMT00000034504.1	80	0.00	0	G	NM_032563		152552176	152552176	-1	no_errors	ENST00000368787	ensembl	human	known	69_37n	silent	109	17.42	23	SNP	0.026	A
LPIN3	64900	genome.wustl.edu	37	20	39987407	39987407	+	Silent	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr20:39987407G>A	ENST00000373257.3	+	20	2548	c.2457G>A	c.(2455-2457)gtG>gtA	p.V819V	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	819					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TCCCACCTGTGGCCCGTGGCC	0.602																																						dbGAP											0													98.0	86.0	90.0					20																	39987407		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2457G>A	20.37:g.39987407G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.V819	ENST00000373257.3	37	c.2457	CCDS33469.1	20																																																																																			LPIN3	-	NULL	ENSG00000132793		0.602	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	68	0.00	0	G	NM_022896		39987407	39987407	+1	no_errors	ENST00000373257	ensembl	human	known	69_37n	silent	23	60.34	35	SNP	0.000	A
LPIN3	64900	genome.wustl.edu	37	20	39987407	39987407	+	Silent	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr20:39987407G>A	ENST00000373257.3	+	20	2548	c.2457G>A	c.(2455-2457)gtG>gtA	p.V819V	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	819					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TCCCACCTGTGGCCCGTGGCC	0.602																																						dbGAP											0													98.0	86.0	90.0					20																	39987407		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2457G>A	20.37:g.39987407G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.V819	ENST00000373257.3	37	c.2457	CCDS33469.1	20																																																																																			LPIN3	-	NULL	ENSG00000132793		0.602	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	40	0.00	0	G	NM_022896		39987407	39987407	+1	no_errors	ENST00000373257	ensembl	human	known	69_37n	silent	23	60.34	35	SNP	0.000	A
LRRC14	9684	genome.wustl.edu	37	8	145745252	145745252	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr8:145745252G>A	ENST00000292524.1	+	2	289	c.143G>A	c.(142-144)cGc>cAc	p.R48H	LRRC14_ENST00000529022.1_Missense_Mutation_p.R48H|RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	48								p.R48H(1)		endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGGTACTGCGCGAGTTGGTA	0.637																																						dbGAP											1	Substitution - Missense(1)	lung(1)											101.0	98.0	99.0					8																	145745252		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.143G>A	8.37:g.145745252G>A	ENSP00000292524:p.Arg48His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0A8|D3DWM8	Missense_Mutation	SNP	NULL	p.R48H	ENST00000292524.1	37	c.143	CCDS6432.1	8	.	.	.	.	.	.	.	.	.	.	G	9.318	1.057268	0.19907	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.43294	2.28;5.08;5.08;0.95;0.96	4.66	1.65	0.23941	.	0.393157	0.26220	N	0.025635	T	0.25044	0.0608	L	0.34521	1.04	0.20074	N	0.999934	P	0.49696	0.927	B	0.39465	0.3	T	0.11941	-1.0567	10	0.38643	T	0.18	.	5.4832	0.16735	0.4526:0.0:0.5474:0.0	.	48	Q15048	LRC14_HUMAN	H	48	ENSP00000436452:R48H;ENSP00000434768:R48H;ENSP00000292524:R48H;ENSP00000435985:R48H;ENSP00000434738:R48H	ENSP00000292524:R48H	R	+	2	0	LRRC14	145716060	0.571000	0.26659	0.055000	0.19348	0.697000	0.40408	1.183000	0.32041	0.584000	0.29591	0.462000	0.41574	CGC	LRRC14	-	NULL	ENSG00000160959		0.637	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC14	HGNC	protein_coding	OTTHUMT00000382494.1	102	0.00	0	G	NM_014665		145745252	145745252	+1	no_errors	ENST00000292524	ensembl	human	known	69_37n	missense	50	27.54	19	SNP	0.138	A
MAP3K1	4214	genome.wustl.edu	37	5	56167801	56167802	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr5:56167801_56167802insT	ENST00000399503.3	+	7	1366_1367	c.1366_1367insT	c.(1366-1368)cttfs	p.L456fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	456					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGAAGAAAGTCTTACAGTGTGT	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1368dupT	5.37:g.56167803_56167803dupT	ENSP00000382423:p.Leu456fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.T457fs	ENST00000399503.3	37	c.1366_1367	CCDS43318.1	5																																																																																			MAP3K1	-	pfscan_Znf_RING	ENSG00000095015		0.416	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	17	0.00	0	-	XM_042066		56167801	56167802	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	20	33.33	10	INS	0.999:0.992	T
MAP3K1	4214	genome.wustl.edu	37	5	56167801	56167802	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr5:56167801_56167802insT	ENST00000399503.3	+	7	1366_1367	c.1366_1367insT	c.(1366-1368)cttfs	p.L456fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	456					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGAAGAAAGTCTTACAGTGTGT	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1368dupT	5.37:g.56167803_56167803dupT	ENSP00000382423:p.Leu456fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.T457fs	ENST00000399503.3	37	c.1366_1367	CCDS43318.1	5																																																																																			MAP3K1	-	pfscan_Znf_RING	ENSG00000095015		0.416	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	149	0.00	0	-	XM_042066		56167801	56167802	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	124	39.22	80	INS	0.999:0.992	T
MAP3K1	4214	genome.wustl.edu	37	5	56167801	56167802	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr5:56167801_56167802insT	ENST00000399503.3	+	7	1366_1367	c.1366_1367insT	c.(1366-1368)cttfs	p.L456fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	456					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGAAGAAAGTCTTACAGTGTGT	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1368dupT	5.37:g.56167803_56167803dupT	ENSP00000382423:p.Leu456fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.T457fs	ENST00000399503.3	37	c.1366_1367	CCDS43318.1	5																																																																																			MAP3K1	-	pfscan_Znf_RING	ENSG00000095015		0.416	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	118	0.00	0	-	XM_042066		56167801	56167802	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	124	39.22	80	INS	0.999:0.992	T
MAP3K1	4214	genome.wustl.edu	37	5	56174851	56174852	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr5:56174851_56174852insGC	ENST00000399503.3	+	11	2010_2011	c.2010_2011insGC	c.(2011-2013)gcgfs	p.A671fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	671					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCACAGTTTAGCGGAAAGAAT	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2011_2012dupGC	5.37:g.56174852_56174853dupGC	ENSP00000382423:p.Ala671fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.E671fs	ENST00000399503.3	37	c.2010_2011	CCDS43318.1	5																																																																																			MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.386	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	21	0.00	0	-	XM_042066		56174851	56174852	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	29	27.50	11	INS	0.964:1.000	GC
MAP3K1	4214	genome.wustl.edu	37	5	56174851	56174852	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr5:56174851_56174852insGC	ENST00000399503.3	+	11	2010_2011	c.2010_2011insGC	c.(2011-2013)gcgfs	p.A671fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	671					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCACAGTTTAGCGGAAAGAAT	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2011_2012dupGC	5.37:g.56174852_56174853dupGC	ENSP00000382423:p.Ala671fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.E671fs	ENST00000399503.3	37	c.2010_2011	CCDS43318.1	5																																																																																			MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.386	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	187	0.00	0	-	XM_042066		56174851	56174852	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	296	17.55	63	INS	0.964:1.000	GC
MAP3K1	4214	genome.wustl.edu	37	5	56174851	56174852	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr5:56174851_56174852insGC	ENST00000399503.3	+	11	2010_2011	c.2010_2011insGC	c.(2011-2013)gcgfs	p.A671fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	671					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCACAGTTTAGCGGAAAGAAT	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2011_2012dupGC	5.37:g.56174852_56174853dupGC	ENSP00000382423:p.Ala671fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.E671fs	ENST00000399503.3	37	c.2010_2011	CCDS43318.1	5																																																																																			MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.386	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	430	0.00	0	-	XM_042066		56174851	56174852	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	296	17.55	63	INS	0.964:1.000	GC
MC1R	4157	genome.wustl.edu	37	16	89981358	89981358	+	5'Flank	SNP	T	T	C			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr16:89981358T>C	ENST00000555147.1	+	0	0				RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_5'UTR	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)						G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		tgtgtgtgtgtgcctgtgtgt	0.532									Melanoma, Familial Clustering of																													dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726			16.37:g.89981358T>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	RNA	SNP	-	NULL	ENST00000555147.1	37	NULL	CCDS56011.1	16																																																																																			MC1R	-	-	ENSG00000258839		0.532	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412014.1	69	0.00	0	T	NM_002386		89981358	89981358	+1	no_errors	ENST00000539976	ensembl	human	known	69_37n	rna	35	10.26	4	SNP	0.998	C
MUC19	283463	genome.wustl.edu	37	12	40791680	40791680	+	Splice_Site	SNP	G	G	T			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr12:40791680G>T	ENST00000454784.4	+	2	105		c.e2-1		RP11-115F18.1_ENST00000552757.1_RNA			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						TTTTAAAATAGATGTGGAAGC	0.299																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.-628-1G>T	12.37:g.40791680G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NA85	Splice_Site	SNP	-	NULL	ENST00000454784.4	37	c.NULL		12	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789650	0.31685	.	.	ENSG00000205592	ENST00000425730	.	.	.	4.27	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3995	0.26956	0.1191:0.0:0.8809:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC19	39077947	0.948000	0.32251	0.880000	0.34516	0.206000	0.24218	1.882000	0.39648	1.367000	0.46095	0.655000	0.94253	.	MUC19	-	-	ENSG00000205592		0.299	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	MUC19	HGNC	protein_coding	OTTHUMT00000384257.6	22	0.00	0	G	XM_003403524	Intron	40791680	40791680	+1	no_errors	ENST00000454784	ensembl	human	known	69_37n	splice_site	14	22.22	4	SNP	0.910	T
Unknown	0	genome.wustl.edu	37	3	195346312	195346312	+	IGR	SNP	C	C	T	rs369994739		TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr3:195346312C>T								APOD (35236 upstream) : RP11-141C7.4 (20548 downstream)																							TCCGACGGCCCCCATCCAGTC	0.622																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															3.37:g.195346312C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P205L		37	c.614		3	.	.	.	.	.	.	.	.	.	.	.	9.559	1.117882	0.20877	.	.	ENSG00000176945	ENST00000381954	.	.	.	.	.	.	.	.	.	.	.	T	0.35595	0.0937	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31971	-0.9924	3	0.46703	T	0.11	.	.	.	.	.	.	.	.	L	205	.	ENSP00000371380:P205L	P	+	2	0	MUC20	196827601	0.000000	0.05858	0.122000	0.21767	0.237000	0.25408	-0.301000	0.08232	0.149000	0.19098	0.152000	0.16155	CCC	MUC20	-	NULL	ENSG00000176945	0	0.622					MUC20	HGNC			82	0.00	0	C			195346312	195346312	+1	no_errors	ENST00000381954	ensembl	human	known	69_37n	missense	75	11.76	10	SNP	0.132	T
NGEF	25791	genome.wustl.edu	37	2	233839577	233839577	+	Silent	SNP	A	A	G			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr2:233839577A>G	ENST00000264051.3	-	2	302	c.24T>C	c.(22-24)gaT>gaC	p.D8D		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	8	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TCTTTTCCAAATCTTCAGATT	0.453																																						dbGAP											0													86.0	83.0	84.0					2																	233839577		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.24T>C	2.37:g.233839577A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.D8	ENST00000264051.3	37	c.24	CCDS2500.1	2																																																																																			NGEF	-	NULL	ENSG00000066248		0.453	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	41	0.00	0	A	XM_044799		233839577	233839577	-1	no_errors	ENST00000264051	ensembl	human	known	69_37n	silent	32	21.95	9	SNP	0.000	G
NGEF	25791	genome.wustl.edu	37	2	233839577	233839577	+	Silent	SNP	A	A	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr2:233839577A>G	ENST00000264051.3	-	2	302	c.24T>C	c.(22-24)gaT>gaC	p.D8D		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	8	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TCTTTTCCAAATCTTCAGATT	0.453																																						dbGAP											0													86.0	83.0	84.0					2																	233839577		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.24T>C	2.37:g.233839577A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.D8	ENST00000264051.3	37	c.24	CCDS2500.1	2																																																																																			NGEF	-	NULL	ENSG00000066248		0.453	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	67	0.00	0	A	XM_044799		233839577	233839577	-1	no_errors	ENST00000264051	ensembl	human	known	69_37n	silent	70	27.08	26	SNP	0.000	G
NGEF	25791	genome.wustl.edu	37	2	233839577	233839577	+	Silent	SNP	A	A	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr2:233839577A>G	ENST00000264051.3	-	2	302	c.24T>C	c.(22-24)gaT>gaC	p.D8D		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	8	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TCTTTTCCAAATCTTCAGATT	0.453																																						dbGAP											0													86.0	83.0	84.0					2																	233839577		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.24T>C	2.37:g.233839577A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.D8	ENST00000264051.3	37	c.24	CCDS2500.1	2																																																																																			NGEF	-	NULL	ENSG00000066248		0.453	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	171	0.00	0	A	XM_044799		233839577	233839577	-1	no_errors	ENST00000264051	ensembl	human	known	69_37n	silent	70	27.08	26	SNP	0.000	G
NOL6	65083	genome.wustl.edu	37	9	33469529	33469530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr9:33469529_33469530insG	ENST00000379471.2	-	5	781_782	c.694_695insC	c.(694-696)cacfs	p.H232fs	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Frame_Shift_Ins_p.H172fs			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	232					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)		GGGTTTCAGGTGGCAGCCATTT	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.695dupC	9.37:g.33469531_33469531dupG	ENSP00000368784:p.His232fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Frame_Shift_Ins	INS	pfam_Nrap	p.H232fs	ENST00000379471.2	37	c.695_694		9																																																																																			NOL6	-	pfam_Nrap	ENSG00000165271		0.594	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	75	0.00	0	-	NM_022917		33469529	33469530	-1	no_errors	ENST00000297990	ensembl	human	known	69_37n	frame_shift_ins	60	63.19	103	INS	1.000:1.000	G
NOL6	65083	genome.wustl.edu	37	9	33469529	33469530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr9:33469529_33469530insG	ENST00000379471.2	-	5	781_782	c.694_695insC	c.(694-696)cacfs	p.H232fs	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Frame_Shift_Ins_p.H172fs			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	232					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)		GGGTTTCAGGTGGCAGCCATTT	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.695dupC	9.37:g.33469531_33469531dupG	ENSP00000368784:p.His232fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Frame_Shift_Ins	INS	pfam_Nrap	p.H232fs	ENST00000379471.2	37	c.695_694		9																																																																																			NOL6	-	pfam_Nrap	ENSG00000165271		0.594	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	55	0.00	0	-	NM_022917		33469529	33469530	-1	no_errors	ENST00000297990	ensembl	human	known	69_37n	frame_shift_ins	60	63.19	103	INS	1.000:1.000	G
NUDT11	55190	genome.wustl.edu	37	X	51238952	51238952	+	Silent	SNP	C	C	T			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chrX:51238952C>T	ENST00000375992.3	-	1	496	c.345G>A	c.(343-345)agG>agA	p.R115R		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	115	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					ACTCTCGCTTCCTCCCAATGC	0.527										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	dbGAP											0													56.0	50.0	52.0					X																	51238952		2202	4280	6482	-	-	-	SO:0001819	synonymous_variant	0			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.345G>A	X.37:g.51238952C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVN0	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.R115	ENST00000375992.3	37	c.345	CCDS43952.1	X																																																																																			NUDT11	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000196368		0.527	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT11	HGNC	protein_coding	OTTHUMT00000056579.1	67	0.00	0	C			51238952	51238952	-1	no_errors	ENST00000375992	ensembl	human	known	69_37n	silent	57	37.36	34	SNP	1.000	T
NUDT11	55190	genome.wustl.edu	37	X	51238952	51238952	+	Silent	SNP	C	C	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chrX:51238952C>T	ENST00000375992.3	-	1	496	c.345G>A	c.(343-345)agG>agA	p.R115R		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	115	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					ACTCTCGCTTCCTCCCAATGC	0.527										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	dbGAP											0													56.0	50.0	52.0					X																	51238952		2202	4280	6482	-	-	-	SO:0001819	synonymous_variant	0			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.345G>A	X.37:g.51238952C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVN0	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.R115	ENST00000375992.3	37	c.345	CCDS43952.1	X																																																																																			NUDT11	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000196368		0.527	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT11	HGNC	protein_coding	OTTHUMT00000056579.1	77	0.00	0	C			51238952	51238952	-1	no_errors	ENST00000375992	ensembl	human	known	69_37n	silent	52	23.53	16	SNP	1.000	T
NUDT11	55190	genome.wustl.edu	37	X	51238952	51238952	+	Silent	SNP	C	C	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chrX:51238952C>T	ENST00000375992.3	-	1	496	c.345G>A	c.(343-345)agG>agA	p.R115R		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	115	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					ACTCTCGCTTCCTCCCAATGC	0.527										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	dbGAP											0													56.0	50.0	52.0					X																	51238952		2202	4280	6482	-	-	-	SO:0001819	synonymous_variant	0			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.345G>A	X.37:g.51238952C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVN0	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.R115	ENST00000375992.3	37	c.345	CCDS43952.1	X																																																																																			NUDT11	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000196368		0.527	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT11	HGNC	protein_coding	OTTHUMT00000056579.1	66	0.00	0	C			51238952	51238952	-1	no_errors	ENST00000375992	ensembl	human	known	69_37n	silent	52	23.53	16	SNP	1.000	T
NUDT6	11162	genome.wustl.edu	37	4	123814028	123814028	+	Silent	SNP	A	A	G			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr4:123814028A>G	ENST00000304430.5	-	5	939	c.906T>C	c.(904-906)caT>caC	p.H302H	NUDT6_ENST00000339154.2_Silent_p.H133H|FGF2_ENST00000608478.1_3'UTR|FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000502270.1_Silent_p.H133H|NUDT6_ENST00000608639.1_5'Flank	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	302						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GCAGTTCCTTATGATAGAGTT	0.348																																						dbGAP											0													41.0	45.0	43.0					4																	123814028		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.906T>C	4.37:g.123814028A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K756|O95097|Q9UQD9	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like	p.H302	ENST00000304430.5	37	c.906	CCDS43268.1	4																																																																																			NUDT6	-	superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like	ENSG00000170917		0.348	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT6	HGNC	protein_coding	OTTHUMT00000095331.3	22	0.00	0	A	NM_007083		123814028	123814028	-1	no_errors	ENST00000304430	ensembl	human	known	69_37n	silent	32	31.91	15	SNP	1.000	G
NUDT6	11162	genome.wustl.edu	37	4	123814028	123814028	+	Silent	SNP	A	A	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr4:123814028A>G	ENST00000304430.5	-	5	939	c.906T>C	c.(904-906)caT>caC	p.H302H	NUDT6_ENST00000339154.2_Silent_p.H133H|FGF2_ENST00000608478.1_3'UTR|FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000502270.1_Silent_p.H133H|NUDT6_ENST00000608639.1_5'Flank	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	302						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GCAGTTCCTTATGATAGAGTT	0.348																																						dbGAP											0													41.0	45.0	43.0					4																	123814028		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.906T>C	4.37:g.123814028A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K756|O95097|Q9UQD9	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like	p.H302	ENST00000304430.5	37	c.906	CCDS43268.1	4																																																																																			NUDT6	-	superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like	ENSG00000170917		0.348	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT6	HGNC	protein_coding	OTTHUMT00000095331.3	138	0.00	0	A	NM_007083		123814028	123814028	-1	no_errors	ENST00000304430	ensembl	human	known	69_37n	silent	93	26.19	33	SNP	1.000	G
NUDT6	11162	genome.wustl.edu	37	4	123814028	123814028	+	Silent	SNP	A	A	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr4:123814028A>G	ENST00000304430.5	-	5	939	c.906T>C	c.(904-906)caT>caC	p.H302H	NUDT6_ENST00000339154.2_Silent_p.H133H|FGF2_ENST00000608478.1_3'UTR|FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000502270.1_Silent_p.H133H|NUDT6_ENST00000608639.1_5'Flank	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	302						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GCAGTTCCTTATGATAGAGTT	0.348																																						dbGAP											0													41.0	45.0	43.0					4																	123814028		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.906T>C	4.37:g.123814028A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K756|O95097|Q9UQD9	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like	p.H302	ENST00000304430.5	37	c.906	CCDS43268.1	4																																																																																			NUDT6	-	superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like	ENSG00000170917		0.348	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT6	HGNC	protein_coding	OTTHUMT00000095331.3	126	0.79	1	A	NM_007083		123814028	123814028	-1	no_errors	ENST00000304430	ensembl	human	known	69_37n	silent	93	26.19	33	SNP	1.000	G
PAM	5066	genome.wustl.edu	37	5	102201820	102201820	+	5'UTR	SNP	G	G	A			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr5:102201820G>A	ENST00000438793.3	+	0	391				PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_5'UTR|PAM_ENST00000455264.2_5'UTR|PAM_ENST00000348126.2_5'UTR|PAM_ENST00000513648.1_3'UTR|PAM_ENST00000304400.7_5'UTR|PAM_ENST00000346918.2_5'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase						central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GGCTGCTGGCGGCGCCGCTGC	0.771																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.-80G>A	5.37:g.102201820G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	RNA	SNP	-	NULL	ENST00000438793.3	37	NULL	CCDS54885.1	5																																																																																			PAM	-	-	ENSG00000145730		0.771	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	13	0.00	0	G	NM_000919		102201820	102201820	+1	no_errors	ENST00000509523	ensembl	human	known	69_37n	rna	6	40.00	4	SNP	0.001	A
PDHA1	5160	genome.wustl.edu	37	X	19362212	19362212	+	Splice_Site	SNP	G	G	A			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chrX:19362212G>A	ENST00000422285.2	+	1	162	c.57G>A	c.(55-57)ccG>ccA	p.P19P	PDHA1_ENST00000379806.5_Splice_Site_p.P19P|PDHA1_ENST00000540249.1_Splice_Site_p.P19P|PDHA1_ENST00000545074.1_Splice_Site_p.P19P|PDHA1_ENST00000379805.3_Splice_Site_p.P19P			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	19					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CTCAGAAGCCGGTGAGACCTC	0.736																																						dbGAP											0													14.0	14.0	14.0					X																	19362212		2188	4266	6454	-	-	-	SO:0001630	splice_region_variant	0				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.57+1G>A	X.37:g.19362212G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.P19	ENST00000422285.2	37	c.57	CCDS14192.1	X																																																																																			PDHA1	-	NULL	ENSG00000131828		0.736	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDHA1	HGNC	protein_coding	OTTHUMT00000055977.1	22	0.00	0	G		Silent	19362212	19362212	+1	no_errors	ENST00000379806	ensembl	human	known	69_37n	silent	10	47.37	9	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	19	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	141	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	178	44.38	142	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	337	0.30	1	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	178	44.38	142	SNP	1.000	G
PPP2R5B	5526	genome.wustl.edu	37	11	64695596	64695596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr11:64695596delC	ENST00000164133.2	+	5	1179	c.557delC	c.(556-558)gccfs	p.A186fs		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	186					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCCTCCGTGGCCAAGAGATAT	0.562																																						dbGAP											0													133.0	125.0	128.0					11																	64695596		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.557delC	11.37:g.64695596delC	ENSP00000164133:p.Ala186fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13853	Frame_Shift_Del	DEL	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.K187fs	ENST00000164133.2	37	c.557	CCDS8085.1	11																																																																																			PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.562	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	53	0.00	0	C	NM_006244		64695596	64695596	+1	no_errors	ENST00000164133	ensembl	human	known	69_37n	frame_shift_del	27	53.12	34	DEL	1.000	-
PPP2R5B	5526	genome.wustl.edu	37	11	64695596	64695596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr11:64695596delC	ENST00000164133.2	+	5	1179	c.557delC	c.(556-558)gccfs	p.A186fs		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	186					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCCTCCGTGGCCAAGAGATAT	0.562																																						dbGAP											0													133.0	125.0	128.0					11																	64695596		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.557delC	11.37:g.64695596delC	ENSP00000164133:p.Ala186fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13853	Frame_Shift_Del	DEL	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.K187fs	ENST00000164133.2	37	c.557	CCDS8085.1	11																																																																																			PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.562	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	66	0.00	0	C	NM_006244		64695596	64695596	+1	no_errors	ENST00000164133	ensembl	human	known	69_37n	frame_shift_del	27	53.12	34	DEL	1.000	-
RAD54L2	23132	genome.wustl.edu	37	3	51697422	51697423	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr3:51697422_51697423delGT	ENST00000409535.2	+	22	4515_4516	c.4390_4391delGT	c.(4390-4392)gtcfs	p.V1464fs	RAD54L2_ENST00000296477.3_Frame_Shift_Del_p.V1158fs	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1464						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGTGATAGAGGTCACTGGGAAA	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.4390_4391delGT	3.37:g.51697422_51697423delGT	ENSP00000386520:p.Val1464fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB57|Q9BV54	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1464fs	ENST00000409535.2	37	c.4390_4391	CCDS33765.2	3																																																																																			RAD54L2	-	NULL	ENSG00000164080		0.535	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	28	0.00	0	GT	NM_015106		51697422	51697423	+1	no_errors	ENST00000409535	ensembl	human	known	69_37n	frame_shift_del	56	64.37	112	DEL	1.000:1.000	-
RAD54L2	23132	genome.wustl.edu	37	3	51697422	51697423	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr3:51697422_51697423delGT	ENST00000409535.2	+	22	4515_4516	c.4390_4391delGT	c.(4390-4392)gtcfs	p.V1464fs	RAD54L2_ENST00000296477.3_Frame_Shift_Del_p.V1158fs	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1464						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGTGATAGAGGTCACTGGGAAA	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.4390_4391delGT	3.37:g.51697422_51697423delGT	ENSP00000386520:p.Val1464fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB57|Q9BV54	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1464fs	ENST00000409535.2	37	c.4390_4391	CCDS33765.2	3																																																																																			RAD54L2	-	NULL	ENSG00000164080		0.535	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	126	0.00	0	GT	NM_015106		51697422	51697423	+1	no_errors	ENST00000409535	ensembl	human	known	69_37n	frame_shift_del	56	64.37	112	DEL	1.000:1.000	-
RGL2	5863	genome.wustl.edu	37	6	33263964	33263965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr6:33263964_33263965insC	ENST00000497454.1	-	6	1103_1104	c.608_609insG	c.(607-609)ggcfs	p.G203fs	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Frame_Shift_Ins_p.G121fs	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	203	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGTCAGCGCTGCCCCCCCCAAC	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.609dupG	6.37:g.33263972_33263972dupC	ENSP00000420211:p.Gly203fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG72|Q5STK0|Q9Y3F3	Frame_Shift_Ins	INS	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S204fs	ENST00000497454.1	37	c.609_608	CCDS4774.1	6																																																																																			RGL2	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000237441		0.653	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	47	0.00	0	-			33263964	33263965	-1	no_errors	ENST00000497454	ensembl	human	known	69_37n	frame_shift_ins	40	11.11	5	INS	1.000:1.000	C
SCN11A	11280	genome.wustl.edu	37	3	38991614	38991615	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr3:38991614_38991615insC	ENST00000302328.3	-	1	437_438	c.239_240insG	c.(238-240)gacfs	p.D80fs	SCN11A_ENST00000450244.1_Frame_Shift_Ins_p.D80fs|SCN11A_ENST00000456224.3_Frame_Shift_Ins_p.D80fs|SCN11A_ENST00000444237.2_Frame_Shift_Ins_p.D80fs	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	80					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGTCCAAGTCTTCCAGAGG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.239_240insG	3.37:g.38991614_38991615insC	ENSP00000307599:p.Asp80fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.D80fs	ENST00000302328.3	37	c.240_239	CCDS33737.1	3																																																																																			SCN11A	-	NULL	ENSG00000168356		0.559	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	34	0.00	0	-	NM_014139		38991614	38991615	-1	no_errors	ENST00000302328	ensembl	human	known	69_37n	frame_shift_ins	32	11.11	4	INS	0.985:1.000	C
SCN11A	11280	genome.wustl.edu	37	3	38991614	38991615	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr3:38991614_38991615insC	ENST00000302328.3	-	1	437_438	c.239_240insG	c.(238-240)gacfs	p.D80fs	SCN11A_ENST00000450244.1_Frame_Shift_Ins_p.D80fs|SCN11A_ENST00000456224.3_Frame_Shift_Ins_p.D80fs|SCN11A_ENST00000444237.2_Frame_Shift_Ins_p.D80fs	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	80					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGTCCAAGTCTTCCAGAGG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.239_240insG	3.37:g.38991614_38991615insC	ENSP00000307599:p.Asp80fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.D80fs	ENST00000302328.3	37	c.240_239	CCDS33737.1	3																																																																																			SCN11A	-	NULL	ENSG00000168356		0.559	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	37	0.00	0	-	NM_014139		38991614	38991615	-1	no_errors	ENST00000302328	ensembl	human	known	69_37n	frame_shift_ins	32	11.11	4	INS	0.985:1.000	C
SLC9A2	6549	genome.wustl.edu	37	2	103300760	103300760	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr2:103300760G>T	ENST00000233969.2	+	5	1532	c.1390G>T	c.(1390-1392)Gcc>Tcc	p.A464S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	464					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TATTACGGCTGCCATTGTTGT	0.403																																						dbGAP											0													187.0	185.0	186.0					2																	103300760		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1390G>T	2.37:g.103300760G>T	ENSP00000233969:p.Ala464Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A464S	ENST00000233969.2	37	c.1390	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093722	0.56075	.	.	ENSG00000115616	ENST00000233969	T	0.16597	2.33	5.62	5.62	0.85841	Cation/H+ exchanger (1);	0.108661	0.64402	D	0.000006	T	0.13114	0.0318	N	0.17082	0.46	0.40442	D	0.980054	P	0.35684	0.515	B	0.37387	0.248	T	0.06661	-1.0814	10	0.87932	D	0	.	12.9284	0.58272	0.0742:0.0:0.9257:0.0	.	464	Q9UBY0	SL9A2_HUMAN	S	464	ENSP00000233969:A464S	ENSP00000233969:A464S	A	+	1	0	SLC9A2	102667192	0.999000	0.42202	0.286000	0.24833	0.914000	0.54420	4.741000	0.62095	2.633000	0.89246	0.655000	0.94253	GCC	SLC9A2	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000115616		0.403	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	114	0.00	0	G			103300760	103300760	+1	no_errors	ENST00000233969	ensembl	human	known	69_37n	missense	95	18.10	21	SNP	1.000	T
SCN2A	6326	genome.wustl.edu	37	2	166245948	166245948	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr2:166245948C>A	ENST00000375437.2	+	27	5922	c.5632C>A	c.(5632-5634)Cag>Aag	p.Q1878K	SCN2A_ENST00000283256.6_Missense_Mutation_p.Q1878K|SCN2A_ENST00000375427.2_Missense_Mutation_p.Q1878K|SCN2A_ENST00000357398.3_Missense_Mutation_p.Q1878K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1878					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTCGAATACAGATGGAAGA	0.473																																						dbGAP											0													110.0	96.0	101.0					2																	166245948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5632C>A	2.37:g.166245948C>A	ENSP00000364586:p.Gln1878Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.Q1878K	ENST00000375437.2	37	c.5632	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025679	0.54683	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000003	D	0.97155	0.9070	M	0.88640	2.97	0.80722	D	1	P;B	0.39520	0.676;0.045	B;B	0.42030	0.373;0.116	D	0.97750	1.0214	10	0.72032	D	0.01	.	19.8849	0.96909	0.0:1.0:0.0:0.0	.	1878;1878	Q99250-2;Q99250	.;SCN2A_HUMAN	K	1878	ENSP00000364586:Q1878K;ENSP00000349973:Q1878K;ENSP00000283256:Q1878K;ENSP00000364576:Q1878K	ENSP00000283256:Q1878K	Q	+	1	0	SCN2A	165954194	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.737000	0.84957	2.781000	0.95711	0.580000	0.79431	CAG	SCN2A	-	NULL	ENSG00000136531		0.473	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	23	0.00	0	C	NM_021007		166245948	166245948	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	1.000	A
SCN2A	6326	genome.wustl.edu	37	2	166245948	166245948	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr2:166245948C>A	ENST00000375437.2	+	27	5922	c.5632C>A	c.(5632-5634)Cag>Aag	p.Q1878K	SCN2A_ENST00000283256.6_Missense_Mutation_p.Q1878K|SCN2A_ENST00000375427.2_Missense_Mutation_p.Q1878K|SCN2A_ENST00000357398.3_Missense_Mutation_p.Q1878K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1878					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTCGAATACAGATGGAAGA	0.473																																						dbGAP											0													110.0	96.0	101.0					2																	166245948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5632C>A	2.37:g.166245948C>A	ENSP00000364586:p.Gln1878Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.Q1878K	ENST00000375437.2	37	c.5632	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025679	0.54683	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000003	D	0.97155	0.9070	M	0.88640	2.97	0.80722	D	1	P;B	0.39520	0.676;0.045	B;B	0.42030	0.373;0.116	D	0.97750	1.0214	10	0.72032	D	0.01	.	19.8849	0.96909	0.0:1.0:0.0:0.0	.	1878;1878	Q99250-2;Q99250	.;SCN2A_HUMAN	K	1878	ENSP00000364586:Q1878K;ENSP00000349973:Q1878K;ENSP00000283256:Q1878K;ENSP00000364576:Q1878K	ENSP00000283256:Q1878K	Q	+	1	0	SCN2A	165954194	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.737000	0.84957	2.781000	0.95711	0.580000	0.79431	CAG	SCN2A	-	NULL	ENSG00000136531		0.473	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	286	0.00	0	C	NM_021007		166245948	166245948	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	216	23.94	68	SNP	1.000	A
SCN2A	6326	genome.wustl.edu	37	2	166245948	166245948	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr2:166245948C>A	ENST00000375437.2	+	27	5922	c.5632C>A	c.(5632-5634)Cag>Aag	p.Q1878K	SCN2A_ENST00000283256.6_Missense_Mutation_p.Q1878K|SCN2A_ENST00000375427.2_Missense_Mutation_p.Q1878K|SCN2A_ENST00000357398.3_Missense_Mutation_p.Q1878K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1878					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTCGAATACAGATGGAAGA	0.473																																						dbGAP											0													110.0	96.0	101.0					2																	166245948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5632C>A	2.37:g.166245948C>A	ENSP00000364586:p.Gln1878Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.Q1878K	ENST00000375437.2	37	c.5632	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025679	0.54683	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000003	D	0.97155	0.9070	M	0.88640	2.97	0.80722	D	1	P;B	0.39520	0.676;0.045	B;B	0.42030	0.373;0.116	D	0.97750	1.0214	10	0.72032	D	0.01	.	19.8849	0.96909	0.0:1.0:0.0:0.0	.	1878;1878	Q99250-2;Q99250	.;SCN2A_HUMAN	K	1878	ENSP00000364586:Q1878K;ENSP00000349973:Q1878K;ENSP00000283256:Q1878K;ENSP00000364576:Q1878K	ENSP00000283256:Q1878K	Q	+	1	0	SCN2A	165954194	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.737000	0.84957	2.781000	0.95711	0.580000	0.79431	CAG	SCN2A	-	NULL	ENSG00000136531		0.473	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	265	0.00	0	C	NM_021007		166245948	166245948	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	216	23.94	68	SNP	1.000	A
SNX18	112574	genome.wustl.edu	37	5	53815319	53815320	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr5:53815319_53815320delCA	ENST00000326277.3	+	1	1727_1728	c.1537_1538delCA	c.(1537-1539)cagfs	p.Q513fs	SNX18_ENST00000381410.4_Frame_Shift_Del_p.Q513fs|SNX18_ENST00000343017.6_Frame_Shift_Del_p.Q513fs	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	513	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCAGCCCAGGCAGGACCTGGAT	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1537_1538delCA	5.37:g.53815319_53815320delCA	ENSP00000317332:p.Gln513fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Frame_Shift_Del	DEL	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.Q513fs	ENST00000326277.3	37	c.1537_1538	CCDS3962.1	5																																																																																			SNX18	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9	ENSG00000178996		0.594	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214072.2	69	0.00	0	CA			53815319	53815320	+1	no_errors	ENST00000326277	ensembl	human	known	69_37n	frame_shift_del	30	45.61	26	DEL	1.000:1.000	-
SNX18	112574	genome.wustl.edu	37	5	53815319	53815320	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr5:53815319_53815320delCA	ENST00000326277.3	+	1	1727_1728	c.1537_1538delCA	c.(1537-1539)cagfs	p.Q513fs	SNX18_ENST00000381410.4_Frame_Shift_Del_p.Q513fs|SNX18_ENST00000343017.6_Frame_Shift_Del_p.Q513fs	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	513	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCAGCCCAGGCAGGACCTGGAT	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1537_1538delCA	5.37:g.53815319_53815320delCA	ENSP00000317332:p.Gln513fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Frame_Shift_Del	DEL	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.Q513fs	ENST00000326277.3	37	c.1537_1538	CCDS3962.1	5																																																																																			SNX18	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9	ENSG00000178996		0.594	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214072.2	27	0.00	0	CA			53815319	53815320	+1	no_errors	ENST00000326277	ensembl	human	known	69_37n	frame_shift_del	30	45.61	26	DEL	1.000:1.000	-
MTCL1	23255	genome.wustl.edu	37	18	8824722	8824722	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr18:8824722G>A	ENST00000306329.11	+	13	4171	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K	SOGA2_ENST00000359865.3_Missense_Mutation_p.E1072K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E397K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1031K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E397K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E1031K																							CTCCATGTCTGAGTTCCAGCG	0.602																																						dbGAP											0													77.0	55.0	62.0					18																	8824722		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000306329.11:c.4171G>A	18.37:g.8824722G>A	ENSP00000305027:p.Glu1391Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3166	p.E1072K	ENST00000306329.11	37	c.3214		18	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991900	0.93106	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.51	5.51	0.81932	.	0.000000	0.49916	D	0.000125	T	0.54663	0.1872	M	0.77820	2.39	0.54753	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.70487	0.969;0.919	T	0.58538	-0.7619	10	0.87932	D	0	-32.3966	19.4276	0.94749	0.0:0.0:1.0:0.0	.	1382;1072	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1093;1031;1072;1031;397	ENSP00000429556:E1031K;ENSP00000352927:E1072K;ENSP00000382924:E1031K;ENSP00000303670:E397K	ENSP00000303670:E397K	E	+	1	0	CCDC165	8814722	1.000000	0.71417	0.995000	0.50966	0.935000	0.57460	9.869000	0.99810	2.574000	0.86865	0.650000	0.86243	GAG	SOGA2	-	NULL	ENSG00000168502		0.602	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	77	0.00	0	G			8824722	8824722	+1	no_errors	ENST00000359865	ensembl	human	known	69_37n	missense	56	16.18	11	SNP	1.000	A
SPTA1	6708	genome.wustl.edu	37	1	158608014	158608014	+	Silent	SNP	C	C	T			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr1:158608014C>T	ENST00000368147.4	-	36	5178	c.4998G>A	c.(4996-4998)ctG>ctA	p.L1666L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1666					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAATGTATTCAGGTCCTTGA	0.428																																						dbGAP											0													71.0	67.0	68.0					1																	158608014		1888	4108	5996	-	-	-	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4998G>A	1.37:g.158608014C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L1666	ENST00000368147.4	37	c.4998	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	37	0.00	0	C	NM_003126		158608014	158608014	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	silent	31	11.43	4	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64447873	64447873	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr14:64447873G>C	ENST00000344113.4	+	16	2030	c.1818G>C	c.(1816-1818)aaG>aaC	p.K606N	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.K606N|SYNE2_ENST00000358025.3_Missense_Mutation_p.K606N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	606					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGAGACAAAGAAGGAAGAAA	0.343																																						dbGAP											0													156.0	153.0	154.0					14																	64447873		1841	4079	5920	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1818G>C	14.37:g.64447873G>C	ENSP00000341781:p.Lys606Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K606N	ENST00000344113.4	37	c.1818	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360522	0.41801	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57907	0.73;0.73;0.37	5.67	-1.04	0.10068	.	0.229593	0.29987	N	0.010694	T	0.59528	0.2200	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.994;0.996	P;P	0.60541	0.755;0.876	T	0.59669	-0.7411	10	0.52906	T	0.07	.	10.7783	0.46363	0.5352:0.0:0.4648:0.0	.	606;606	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	606	ENSP00000350719:K606N;ENSP00000341781:K606N;ENSP00000452570:K606N	ENSP00000261678:K606N	K	+	3	2	SYNE2	63517626	0.995000	0.38212	0.989000	0.46669	0.871000	0.50021	0.178000	0.16820	-0.067000	0.12976	0.591000	0.81541	AAG	SYNE2	-	NULL	ENSG00000054654		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	24	0.00	0	G	NM_182914		64447873	64447873	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.871	C
SYNE2	23224	genome.wustl.edu	37	14	64580096	64580096	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr14:64580096C>G	ENST00000344113.4	+	66	12859	c.12647C>G	c.(12646-12648)tCt>tGt	p.S4216C	SYNE2_ENST00000394768.2_Missense_Mutation_p.S601C|SYNE2_ENST00000357395.3_Missense_Mutation_p.S601C|SYNE2_ENST00000555002.1_Missense_Mutation_p.S850C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4231C|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4216C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4216					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTCTGGACTCTTCTGACGCG	0.562																																						dbGAP											0													64.0	64.0	64.0					14																	64580096		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12647C>G	14.37:g.64580096C>G	ENSP00000341781:p.Ser4216Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4216C	ENST00000344113.4	37	c.12647	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	7.924	0.739260	0.15642	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.58210	0.74;4.04;0.74;0.35;4.09;4.04	5.29	2.78	0.32641	.	0.343825	0.25442	N	0.030659	T	0.41442	0.1159	N	0.19112	0.55	0.80722	D	1	P;P;P	0.50272	0.786;0.89;0.933	P;B;P	0.49528	0.513;0.41;0.614	T	0.31558	-0.9939	10	0.59425	D	0.04	.	6.6159	0.22776	0.0:0.2557:0.0:0.7443	.	601;4216;4216	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	C	4216;601;4216;4231;4231;850;601;108	ENSP00000350719:S4216C;ENSP00000349969:S601C;ENSP00000341781:S4216C;ENSP00000452570:S4231C;ENSP00000450831:S850C;ENSP00000378249:S601C	ENSP00000261678:S4231C	S	+	2	0	SYNE2	63649849	0.275000	0.24201	0.965000	0.40720	0.090000	0.18270	0.475000	0.22164	1.020000	0.39573	-0.290000	0.09829	TCT	SYNE2	-	NULL	ENSG00000054654		0.562	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	52	0.00	0	C	NM_182914		64580096	64580096	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	32	36.00	18	SNP	0.856	G
SYNE2	23224	genome.wustl.edu	37	14	64580096	64580096	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr14:64580096C>G	ENST00000344113.4	+	66	12859	c.12647C>G	c.(12646-12648)tCt>tGt	p.S4216C	SYNE2_ENST00000394768.2_Missense_Mutation_p.S601C|SYNE2_ENST00000357395.3_Missense_Mutation_p.S601C|SYNE2_ENST00000555002.1_Missense_Mutation_p.S850C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4231C|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4216C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4216					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTCTGGACTCTTCTGACGCG	0.562																																						dbGAP											0													64.0	64.0	64.0					14																	64580096		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12647C>G	14.37:g.64580096C>G	ENSP00000341781:p.Ser4216Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4216C	ENST00000344113.4	37	c.12647	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	7.924	0.739260	0.15642	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.58210	0.74;4.04;0.74;0.35;4.09;4.04	5.29	2.78	0.32641	.	0.343825	0.25442	N	0.030659	T	0.41442	0.1159	N	0.19112	0.55	0.80722	D	1	P;P;P	0.50272	0.786;0.89;0.933	P;B;P	0.49528	0.513;0.41;0.614	T	0.31558	-0.9939	10	0.59425	D	0.04	.	6.6159	0.22776	0.0:0.2557:0.0:0.7443	.	601;4216;4216	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	C	4216;601;4216;4231;4231;850;601;108	ENSP00000350719:S4216C;ENSP00000349969:S601C;ENSP00000341781:S4216C;ENSP00000452570:S4231C;ENSP00000450831:S850C;ENSP00000378249:S601C	ENSP00000261678:S4231C	S	+	2	0	SYNE2	63649849	0.275000	0.24201	0.965000	0.40720	0.090000	0.18270	0.475000	0.22164	1.020000	0.39573	-0.290000	0.09829	TCT	SYNE2	-	NULL	ENSG00000054654		0.562	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	43	0.00	0	C	NM_182914		64580096	64580096	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	54	19.40	13	SNP	0.856	G
SYNE2	23224	genome.wustl.edu	37	14	64580096	64580096	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr14:64580096C>G	ENST00000344113.4	+	66	12859	c.12647C>G	c.(12646-12648)tCt>tGt	p.S4216C	SYNE2_ENST00000394768.2_Missense_Mutation_p.S601C|SYNE2_ENST00000357395.3_Missense_Mutation_p.S601C|SYNE2_ENST00000555002.1_Missense_Mutation_p.S850C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4231C|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4216C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4216					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACTCTGGACTCTTCTGACGCG	0.562																																						dbGAP											0													64.0	64.0	64.0					14																	64580096		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12647C>G	14.37:g.64580096C>G	ENSP00000341781:p.Ser4216Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4216C	ENST00000344113.4	37	c.12647	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	7.924	0.739260	0.15642	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.58210	0.74;4.04;0.74;0.35;4.09;4.04	5.29	2.78	0.32641	.	0.343825	0.25442	N	0.030659	T	0.41442	0.1159	N	0.19112	0.55	0.80722	D	1	P;P;P	0.50272	0.786;0.89;0.933	P;B;P	0.49528	0.513;0.41;0.614	T	0.31558	-0.9939	10	0.59425	D	0.04	.	6.6159	0.22776	0.0:0.2557:0.0:0.7443	.	601;4216;4216	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	C	4216;601;4216;4231;4231;850;601;108	ENSP00000350719:S4216C;ENSP00000349969:S601C;ENSP00000341781:S4216C;ENSP00000452570:S4231C;ENSP00000450831:S850C;ENSP00000378249:S601C	ENSP00000261678:S4231C	S	+	2	0	SYNE2	63649849	0.275000	0.24201	0.965000	0.40720	0.090000	0.18270	0.475000	0.22164	1.020000	0.39573	-0.290000	0.09829	TCT	SYNE2	-	NULL	ENSG00000054654		0.562	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	81	0.00	0	C	NM_182914		64580096	64580096	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	54	19.40	13	SNP	0.856	G
SRSF5	6430	genome.wustl.edu	37	14	70238145	70238145	+	Silent	SNP	A	A	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr14:70238145A>T	ENST00000553521.1	+	9	2239	c.786A>T	c.(784-786)cgA>cgT	p.R262R	SRSF5_ENST00000553635.1_Silent_p.R259R|SRSF5_ENST00000557154.1_Silent_p.R262R|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Silent_p.R262R			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	262	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						CCCGGTCCCGATCAAGGTCCA	0.458																																						dbGAP											0													116.0	126.0	122.0					14																	70238145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.786A>T	14.37:g.70238145A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14797|Q16662|Q49AD6|Q6FGE0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R262	ENST00000553521.1	37	c.786	CCDS32109.1	14																																																																																			SRSF5	-	NULL	ENSG00000100650		0.458	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	146	0.00	0	A	NM_001039465		70238145	70238145	+1	no_errors	ENST00000394366	ensembl	human	novel	69_37n	silent	241	13.00	36	SNP	0.989	T
SRSF5	6430	genome.wustl.edu	37	14	70238145	70238145	+	Silent	SNP	A	A	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr14:70238145A>T	ENST00000553521.1	+	9	2239	c.786A>T	c.(784-786)cgA>cgT	p.R262R	SRSF5_ENST00000553635.1_Silent_p.R259R|SRSF5_ENST00000557154.1_Silent_p.R262R|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Silent_p.R262R			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	262	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						CCCGGTCCCGATCAAGGTCCA	0.458																																						dbGAP											0													116.0	126.0	122.0					14																	70238145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.786A>T	14.37:g.70238145A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14797|Q16662|Q49AD6|Q6FGE0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R262	ENST00000553521.1	37	c.786	CCDS32109.1	14																																																																																			SRSF5	-	NULL	ENSG00000100650		0.458	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	273	0.36	1	A	NM_001039465		70238145	70238145	+1	no_errors	ENST00000394366	ensembl	human	novel	69_37n	silent	241	13.00	36	SNP	0.989	T
TANC2	26115	genome.wustl.edu	37	17	61315386	61315386	+	Silent	SNP	A	A	G			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr17:61315386A>G	ENST00000424789.2	+	6	763	c.759A>G	c.(757-759)caA>caG	p.Q253Q	TANC2_ENST00000389520.4_Silent_p.Q253Q|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	253					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGTTATCTCAATCAGTACAGT	0.378																																						dbGAP											0													33.0	32.0	32.0					17																	61315386		1854	4098	5952	-	-	-	SO:0001819	synonymous_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.759A>G	17.37:g.61315386A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.N182S	ENST00000424789.2	37	c.545	CCDS45754.1	17																																																																																			TANC2	-	NULL	ENSG00000170921		0.378	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	73	0.00	0	A			61315386	61315386	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000583356	ensembl	human	putative	69_37n	missense	76	13.64	12	SNP	0.387	G
THEM5	284486	genome.wustl.edu	37	1	151819728	151819728	+	IGR	DEL	A	A	-			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr1:151819728delA	ENST00000368817.5	-	0	984				AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5						cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			aggaggcaggaggcaggcagg	0.701																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070		1.37:g.151819728delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1C3	Frame_Shift_Del	DEL	pfam_Thioestr_supf	p.P218fs	ENST00000368817.5	37	c.651	CCDS1005.1	1																																																																																			THEM5	-	NULL	ENSG00000196407		0.701	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THEM5	HGNC	protein_coding	OTTHUMT00000036678.2	33	0.00	0	A	NM_182578		151819728	151819728	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453881	ensembl	human	known	69_37n	frame_shift_del	33	10.81	4	DEL	0.690	-
UBE2V1	7335	genome.wustl.edu	37	20	48700722	48700722	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr20:48700722A>C	ENST00000371674.3	-	3	285	c.241T>G	c.(241-243)Ttt>Gtt	p.F81V	UBE2V1_ENST00000420027.2_Missense_Mutation_p.F37V|TMEM189_ENST00000557021.1_Missense_Mutation_p.F304V|UBE2V1_ENST00000340309.3_Missense_Mutation_p.F104V|UBE2V1_ENST00000371677.3_Missense_Mutation_p.F104V|UBE2V1_ENST00000396059.3_5'UTR|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.F304V|UBE2V1_ENST00000415862.2_Missense_Mutation_p.F37V|UBE2V1_ENST00000371657.5_Intron	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	81					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			AATCTTACAAAGGGGGGTGCT	0.368																																						dbGAP											0													95.0	106.0	103.0					20																	48700722		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.241T>G	20.37:g.48700722A>C	ENSP00000360739:p.Phe81Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.F304V	ENST00000371674.3	37	c.910	CCDS33483.1	20	.	.	.	.	.	.	.	.	.	.	A	13.81	2.348588	0.41599	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.49	5.49	0.81192	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.53938	U	0.000060	T	0.12433	0.0302	N	0.00456	-1.48	0.33781	D	0.624316	B;B;B;B	0.31599	0.33;0.0;0.0;0.0	B;B;B;B	0.33690	0.168;0.004;0.0;0.002	T	0.26916	-1.0089	10	0.13108	T	0.6	-3.2157	15.597	0.76590	1.0:0.0:0.0:0.0	.	304;104;37;81	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	V	304;81;104;37;104;37;37;304	ENSP00000344166:F304V;ENSP00000360739:F81V;ENSP00000340305:F104V;ENSP00000407770:F37V;ENSP00000360742:F104V;ENSP00000395264:F37V;ENSP00000450635:F304V	ENSP00000344166:F304V	F	-	1	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48134129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.081000	0.62600	0.528000	0.53228	TTT	TMEM189-UBE2V1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000124208		0.368	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	TMEM189-UBE2V1	HGNC	protein_coding	OTTHUMT00000080530.1	35	0.00	0	A	NM_021988		48700722	48700722	-1	no_errors	ENST00000341698	ensembl	human	known	69_37n	missense	23	48.89	22	SNP	1.000	C
UBE2V1	7335	genome.wustl.edu	37	20	48700722	48700722	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr20:48700722A>C	ENST00000371674.3	-	3	285	c.241T>G	c.(241-243)Ttt>Gtt	p.F81V	UBE2V1_ENST00000420027.2_Missense_Mutation_p.F37V|TMEM189_ENST00000557021.1_Missense_Mutation_p.F304V|UBE2V1_ENST00000340309.3_Missense_Mutation_p.F104V|UBE2V1_ENST00000371677.3_Missense_Mutation_p.F104V|UBE2V1_ENST00000396059.3_5'UTR|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.F304V|UBE2V1_ENST00000415862.2_Missense_Mutation_p.F37V|UBE2V1_ENST00000371657.5_Intron	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	81					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			AATCTTACAAAGGGGGGTGCT	0.368																																						dbGAP											0													95.0	106.0	103.0					20																	48700722		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.241T>G	20.37:g.48700722A>C	ENSP00000360739:p.Phe81Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.F304V	ENST00000371674.3	37	c.910	CCDS33483.1	20	.	.	.	.	.	.	.	.	.	.	A	13.81	2.348588	0.41599	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.49	5.49	0.81192	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.53938	U	0.000060	T	0.12433	0.0302	N	0.00456	-1.48	0.33781	D	0.624316	B;B;B;B	0.31599	0.33;0.0;0.0;0.0	B;B;B;B	0.33690	0.168;0.004;0.0;0.002	T	0.26916	-1.0089	10	0.13108	T	0.6	-3.2157	15.597	0.76590	1.0:0.0:0.0:0.0	.	304;104;37;81	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	V	304;81;104;37;104;37;37;304	ENSP00000344166:F304V;ENSP00000360739:F81V;ENSP00000340305:F104V;ENSP00000407770:F37V;ENSP00000360742:F104V;ENSP00000395264:F37V;ENSP00000450635:F304V	ENSP00000344166:F304V	F	-	1	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48134129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.081000	0.62600	0.528000	0.53228	TTT	TMEM189-UBE2V1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000124208		0.368	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	TMEM189-UBE2V1	HGNC	protein_coding	OTTHUMT00000080530.1	333	0.30	1	A	NM_021988		48700722	48700722	-1	no_errors	ENST00000341698	ensembl	human	known	69_37n	missense	425	37.66	264	SNP	1.000	C
UBE2V1	7335	genome.wustl.edu	37	20	48700722	48700722	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr20:48700722A>C	ENST00000371674.3	-	3	285	c.241T>G	c.(241-243)Ttt>Gtt	p.F81V	UBE2V1_ENST00000420027.2_Missense_Mutation_p.F37V|TMEM189_ENST00000557021.1_Missense_Mutation_p.F304V|UBE2V1_ENST00000340309.3_Missense_Mutation_p.F104V|UBE2V1_ENST00000371677.3_Missense_Mutation_p.F104V|UBE2V1_ENST00000396059.3_5'UTR|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.F304V|UBE2V1_ENST00000415862.2_Missense_Mutation_p.F37V|UBE2V1_ENST00000371657.5_Intron	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	81					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			AATCTTACAAAGGGGGGTGCT	0.368																																						dbGAP											0													95.0	106.0	103.0					20																	48700722		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.241T>G	20.37:g.48700722A>C	ENSP00000360739:p.Phe81Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.F304V	ENST00000371674.3	37	c.910	CCDS33483.1	20	.	.	.	.	.	.	.	.	.	.	A	13.81	2.348588	0.41599	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.49	5.49	0.81192	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.53938	U	0.000060	T	0.12433	0.0302	N	0.00456	-1.48	0.33781	D	0.624316	B;B;B;B	0.31599	0.33;0.0;0.0;0.0	B;B;B;B	0.33690	0.168;0.004;0.0;0.002	T	0.26916	-1.0089	10	0.13108	T	0.6	-3.2157	15.597	0.76590	1.0:0.0:0.0:0.0	.	304;104;37;81	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	V	304;81;104;37;104;37;37;304	ENSP00000344166:F304V;ENSP00000360739:F81V;ENSP00000340305:F104V;ENSP00000407770:F37V;ENSP00000360742:F104V;ENSP00000395264:F37V;ENSP00000450635:F304V	ENSP00000344166:F304V	F	-	1	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48134129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.081000	0.62600	0.528000	0.53228	TTT	TMEM189-UBE2V1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000124208		0.368	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	TMEM189-UBE2V1	HGNC	protein_coding	OTTHUMT00000080530.1	883	0.22	2	A	NM_021988		48700722	48700722	-1	no_errors	ENST00000341698	ensembl	human	known	69_37n	missense	425	37.66	264	SNP	1.000	C
TTYH2	94015	genome.wustl.edu	37	17	72218622	72218622	+	Splice_Site	DEL	A	A	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr17:72218622delA	ENST00000269346.4	+	2	203		c.e2-1		TTYH2_ENST00000529107.1_Splice_Site	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2							chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GCTCTCTTCCAGTCGCTGCTG	0.647																																						dbGAP											0													78.0	70.0	72.0					17																	72218622		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.130-1A>-	17.37:g.72218622delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Splice_Site	DEL	-	e2-2	ENST00000269346.4	37	c.130-2	CCDS32717.1	17																																																																																			TTYH2	-	-	ENSG00000141540		0.647	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	HGNC	protein_coding	OTTHUMT00000387459.1	78	0	0	A		Intron	72218622	72218622	+1	no_errors	ENST00000269346	ensembl	human	known	69_37n	splice_site_del	18	10	2	DEL	1.000	0
UNC93B1	81622	genome.wustl.edu	37	11	67759196	67759196	+	Missense_Mutation	SNP	A	A	C	rs2375178		TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr11:67759196A>C	ENST00000227471.2	-	12	1691	c.1612T>G	c.(1612-1614)Tac>Gac	p.Y538D	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	539					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.Y538D(1)									AAGTAGCGGTAACCGCGCACC	0.756																																						dbGAP											1	Substitution - Missense(1)	central_nervous_system(1)											1.0	1.0	1.0					11																	67759196		520	1233	1753	-	-	-	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1612T>G	11.37:g.67759196A>C	ENSP00000227471:p.Tyr538Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.Y538D	ENST00000227471.2	37	c.1612		11	.	.	.	.	.	.	.	.	.	.	.	16.53	3.149028	0.57151	.	.	ENSG00000110057	ENST00000227471	T	0.07908	3.15	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	.	.	.	0.39442	D	0.967255	D	0.76494	0.999	D	0.65233	0.933	T	0.01382	-1.1369	8	.	.	.	-10.7865	12.2398	0.54536	1.0:0.0:0.0:0.0	rs2375178	539	Q9H1C4	UN93B_HUMAN	D	538	ENSP00000227471:Y538D	.	Y	-	1	0	UNC93B1	67515772	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	8.029000	0.88807	1.790000	0.52503	0.402000	0.26972	TAC	UNC93B1	-	NULL	ENSG00000110057		0.756	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		19	0.00	0	A	NM_030930		67759196	67759196	-1	no_errors	ENST00000227471	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	1.000	C
USHBP1	83878	genome.wustl.edu	37	19	17362429	17362429	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr19:17362429C>G	ENST00000252597.3	-	12	2057	c.1884G>C	c.(1882-1884)caG>caC	p.Q628H	USHBP1_ENST00000431146.2_Missense_Mutation_p.Q564H|AC010646.3_ENST00000594059.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCTCGGCACTCTGAGACCGTC	0.592																																						dbGAP											0													116.0	115.0	116.0					19																	17362429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1884G>C	19.37:g.17362429C>G	ENSP00000252597:p.Gln628His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain	p.Q628H	ENST00000252597.3	37	c.1884	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479488	0.44044	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.25912	1.79;1.77	4.28	3.22	0.36961	.	0.390950	0.23626	N	0.046198	T	0.47746	0.1462	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.48340	-0.9044	10	0.87932	D	0	-13.9597	10.3251	0.43787	0.0:0.799:0.201:0.0	.	564;628	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	H	628;564	ENSP00000252597:Q628H;ENSP00000407902:Q564H	ENSP00000252597:Q628H	Q	-	3	2	USHBP1	17223429	0.982000	0.34865	0.889000	0.34880	0.409000	0.31022	0.595000	0.24029	0.905000	0.36596	0.561000	0.74099	CAG	USHBP1	-	NULL	ENSG00000130307		0.592	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1	45	0.00	0	C	NM_031941		17362429	17362429	-1	no_errors	ENST00000252597	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	0.925	G
WNK1	65125	genome.wustl.edu	37	12	996462	996462	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr12:996462C>G	ENST00000315939.6	+	20	5999	c.5356C>G	c.(5356-5358)Cta>Gta	p.L1786V	WNK1_ENST00000530271.2_Missense_Mutation_p.L2284V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1379V|WNK1_ENST00000537687.1_Missense_Mutation_p.L2046V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1539V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1786					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGGACCTTCTCTAACCCAGGT	0.493																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													110.0	104.0	106.0					12																	996462		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5356C>G	12.37:g.996462C>G	ENSP00000313059:p.Leu1786Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L2284V	ENST00000315939.6	37	c.6850	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261419	0.59431	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.79845	-1.28;-1.18;-1.21;-1.31;0.03	5.39	5.39	0.77823	.	0.144833	0.31760	N	0.007108	D	0.85401	0.5688	M	0.65498	2.005	0.43462	D	0.995665	D;D;P	0.55385	0.971;0.971;0.914	P;P;P	0.52672	0.637;0.706;0.511	D	0.84038	0.0363	10	0.33940	T	0.23	-0.3524	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1539;1539;1786	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	1539;1786;2046;959;2284;1379	ENSP00000441972:L1539V;ENSP00000313059:L1786V;ENSP00000444465:L2046V;ENSP00000433548:L2284V;ENSP00000341292:L1379V	ENSP00000252477:L959V	L	+	1	2	WNK1	866723	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	1.711000	0.37930	2.528000	0.85240	0.563000	0.77884	CTA	WNK1	-	NULL	ENSG00000060237		0.493	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	126	0.00	0	C	NM_018979		996462	996462	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	missense	76	18.28	17	SNP	1.000	G
WNT5B	81029	genome.wustl.edu	37	12	1740546	1740546	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr12:1740546C>T	ENST00000397196.2	+	2	258	c.26C>T	c.(25-27)aCg>aTg	p.T9M	WNT5B_ENST00000537031.1_Missense_Mutation_p.T9M|WNT5B_ENST00000542408.1_Missense_Mutation_p.T9M|WNT5B_ENST00000310594.3_Missense_Mutation_p.T9M	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	9					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CTGCTGTTCACGGCTGCTCTG	0.622																																						dbGAP											0													90.0	88.0	89.0					12																	1740546		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.26C>T	12.37:g.1740546C>T	ENSP00000380379:p.Thr9Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.T9M	ENST00000397196.2	37	c.26	CCDS8510.1	12	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798490	0.31777	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;D;T;T;T;D;T	0.87966	-1.07;-1.77;-1.01;-1.01;-1.01;-2.32;-0.08	5.25	4.19	0.49359	.	1.257680	0.05198	N	0.504309	T	0.80358	0.4608	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64063	-0.6495	10	0.34782	T	0.22	.	4.9811	0.14166	0.0:0.6117:0.1631:0.2253	.	9	Q9H1J7	WNT5B_HUMAN	M	9	ENSP00000438414:T9M;ENSP00000445395:T9M;ENSP00000439312:T9M;ENSP00000308887:T9M;ENSP00000380379:T9M;ENSP00000442348:T9M;ENSP00000440600:T9M	ENSP00000308887:T9M	T	+	2	0	WNT5B	1610807	0.000000	0.05858	0.038000	0.18304	0.966000	0.64601	0.477000	0.22196	0.870000	0.35726	0.555000	0.69702	ACG	WNT5B	-	NULL	ENSG00000111186		0.622	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	58	0.00	0	C			1740546	1740546	+1	no_errors	ENST00000310594	ensembl	human	known	69_37n	missense	42	32.26	20	SNP	0.092	T
WNT5B	81029	genome.wustl.edu	37	12	1740546	1740546	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr12:1740546C>T	ENST00000397196.2	+	2	258	c.26C>T	c.(25-27)aCg>aTg	p.T9M	WNT5B_ENST00000537031.1_Missense_Mutation_p.T9M|WNT5B_ENST00000542408.1_Missense_Mutation_p.T9M|WNT5B_ENST00000310594.3_Missense_Mutation_p.T9M	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	9					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CTGCTGTTCACGGCTGCTCTG	0.622																																						dbGAP											0													90.0	88.0	89.0					12																	1740546		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.26C>T	12.37:g.1740546C>T	ENSP00000380379:p.Thr9Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.T9M	ENST00000397196.2	37	c.26	CCDS8510.1	12	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798490	0.31777	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;D;T;T;T;D;T	0.87966	-1.07;-1.77;-1.01;-1.01;-1.01;-2.32;-0.08	5.25	4.19	0.49359	.	1.257680	0.05198	N	0.504309	T	0.80358	0.4608	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64063	-0.6495	10	0.34782	T	0.22	.	4.9811	0.14166	0.0:0.6117:0.1631:0.2253	.	9	Q9H1J7	WNT5B_HUMAN	M	9	ENSP00000438414:T9M;ENSP00000445395:T9M;ENSP00000439312:T9M;ENSP00000308887:T9M;ENSP00000380379:T9M;ENSP00000442348:T9M;ENSP00000440600:T9M	ENSP00000308887:T9M	T	+	2	0	WNT5B	1610807	0.000000	0.05858	0.038000	0.18304	0.966000	0.64601	0.477000	0.22196	0.870000	0.35726	0.555000	0.69702	ACG	WNT5B	-	NULL	ENSG00000111186		0.622	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	73	0.00	0	C			1740546	1740546	+1	no_errors	ENST00000310594	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	0.092	T
WNT5B	81029	genome.wustl.edu	37	12	1740546	1740546	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr12:1740546C>T	ENST00000397196.2	+	2	258	c.26C>T	c.(25-27)aCg>aTg	p.T9M	WNT5B_ENST00000537031.1_Missense_Mutation_p.T9M|WNT5B_ENST00000542408.1_Missense_Mutation_p.T9M|WNT5B_ENST00000310594.3_Missense_Mutation_p.T9M	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	9					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CTGCTGTTCACGGCTGCTCTG	0.622																																						dbGAP											0													90.0	88.0	89.0					12																	1740546		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.26C>T	12.37:g.1740546C>T	ENSP00000380379:p.Thr9Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.T9M	ENST00000397196.2	37	c.26	CCDS8510.1	12	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798490	0.31777	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;D;T;T;T;D;T	0.87966	-1.07;-1.77;-1.01;-1.01;-1.01;-2.32;-0.08	5.25	4.19	0.49359	.	1.257680	0.05198	N	0.504309	T	0.80358	0.4608	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64063	-0.6495	10	0.34782	T	0.22	.	4.9811	0.14166	0.0:0.6117:0.1631:0.2253	.	9	Q9H1J7	WNT5B_HUMAN	M	9	ENSP00000438414:T9M;ENSP00000445395:T9M;ENSP00000439312:T9M;ENSP00000308887:T9M;ENSP00000380379:T9M;ENSP00000442348:T9M;ENSP00000440600:T9M	ENSP00000308887:T9M	T	+	2	0	WNT5B	1610807	0.000000	0.05858	0.038000	0.18304	0.966000	0.64601	0.477000	0.22196	0.870000	0.35726	0.555000	0.69702	ACG	WNT5B	-	NULL	ENSG00000111186		0.622	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	107	0.00	0	C			1740546	1740546	+1	no_errors	ENST00000310594	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	0.092	T
YLPM1	56252	genome.wustl.edu	37	14	75230470	75230471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr14:75230470_75230471insG	ENST00000552421.1	+	1	402_403	c.278_279insG	c.(277-282)ccggggfs	p.PG93fs	YLPM1_ENST00000238571.3_Frame_Shift_Ins_p.PG93fs|YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.PG93fs			P49750	YLPM1_HUMAN	YLP motif containing 1	93	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCAGTGATGCCGGGGGGCGGCT	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.284dupG	14.37:g.75230476_75230476dupG	ENSP00000447921:p.Pro93fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	superfamily_FH2_actin-bd	p.G96fs	ENST00000552421.1	37	c.278_279		14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.683	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	36	0.00	0	-	NM_019589		75230470	75230471	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	1.000:0.840	G
YLPM1	56252	genome.wustl.edu	37	14	75283664	75283664	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr14:75283664G>C	ENST00000552421.1	+	13	3722	c.3598G>C	c.(3598-3600)Gag>Cag	p.E1200Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.E1906Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.E1671Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1711	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCTGAGATGGAGGAGACTTA	0.403																																						dbGAP											0													80.0	74.0	76.0					14																	75283664		1869	4099	5968	-	-	-	SO:0001583	missense	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3598G>C	14.37:g.75283664G>C	ENSP00000447921:p.Glu1200Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.E1906Q	ENST00000552421.1	37	c.5716		14	.	.	.	.	.	.	.	.	.	.	G	31	5.064290	0.93898	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.44881	0.91;0.91;0.91	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000004	T	0.67239	0.2872	M	0.72353	2.195	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.87578	0.998;0.994	T	0.67213	-0.5727	10	0.87932	D	0	-14.8165	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1711;1906	P49750-3;P49750-4	.;.	Q	1200;1906;1671;1619;315	ENSP00000447921:E1200Q;ENSP00000324463:E1906Q;ENSP00000448367:E315Q	ENSP00000238571:E1671Q	E	+	1	0	YLPM1	74353417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GAG	YLPM1	-	NULL	ENSG00000119596		0.403	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	48	0.00	0	G	NM_019589		75283664	75283664	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	missense	53	13.11	8	SNP	1.000	C
ZDHHC11B	653082	genome.wustl.edu	37	5	745306	745306	+	Missense_Mutation	SNP	A	A	C	rs172870	byFrequency	TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr5:745306A>C	ENST00000382776.4	-	6	891	c.892T>G	c.(892-894)Ttt>Gtt	p.F298V	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11B_ENST00000508859.2_Missense_Mutation_p.F309V			P0C7U3	ZH11B_HUMAN	zinc finger, DHHC-type containing 11B	298						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			lung(3)|stomach(1)	4						ACCTGGAGAAATCCTTTGTCC	0.473																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					5p15.33	2007-01-29				ENSG00000206077		"""Zinc fingers, DHHC-type"""	32962	protein-coding gene	gene with protein product							Standard	XM_003118532		Approved			P0C7U3		ENST00000382776.4:c.892T>G	5.37:g.745306A>C	ENSP00000445280:p.Phe298Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHR3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.F298V	ENST00000382776.4	37	c.892		5	998	0.45695970695970695	117	0.23780487804878048	207	0.5718232044198895	271	0.4737762237762238	403	0.5316622691292876	a	6.961	0.547281	0.13312	.	.	ENSG00000206077	ENST00000508859;ENST00000382776	T;T	0.26223	1.75;1.75	2.27	-4.54	0.03452	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.43360	-0.9396	5	0.15952	T	0.53	-22.5603	3.3002	0.06980	0.1516:0.2725:0.44:0.1358	rs172870;rs509388;rs1303385;rs12658384	.	.	.	V	309;298	ENSP00000442373:F309V;ENSP00000445280:F298V	ENSP00000445280:F298V	F	-	1	0	ZDHHC11B	798306	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.267000	0.00533	-2.386000	0.00590	-0.636000	0.03981	TTT	ZDHHC11B	-	NULL	ENSG00000206077		0.473	ZDHHC11B-201	KNOWN	basic|appris_candidate	protein_coding	ZDHHC11B	HGNC	protein_coding		188	0.53	1	A	XM_926053		745306	745306	-1	no_errors	ENST00000382776	ensembl	human	known	69_37n	missense	65	12.16	9	SNP	0.000	C
ZKSCAN1	7586	genome.wustl.edu	37	7	99621381	99621381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr7:99621381G>A	ENST00000324306.6	+	2	486	c.252G>A	c.(250-252)tgG>tgA	p.W84*	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Nonsense_Mutation_p.W48*	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	84	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GTCATCAGTGGCTGCGGCCAG	0.547																																						dbGAP											0													64.0	70.0	68.0					7																	99621381		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.252G>A	7.37:g.99621381G>A	ENSP00000323148:p.Trp84*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.W84*	ENST00000324306.6	37	c.252	CCDS34698.1	7	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687657	0.88639	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000432317	.	.	.	4.63	4.63	0.57726	.	0.000000	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.021	0.71630	0.0:0.0:1.0:0.0	.	.	.	.	X	84;48;84	.	ENSP00000323148:W84X	W	+	3	0	ZKSCAN1	99459317	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	6.459000	0.73513	2.398000	0.81561	0.484000	0.47621	TGG	ZKSCAN1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000106261		0.547	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	134	0.00	0	G	NM_003439		99621381	99621381	+1	no_errors	ENST00000324306	ensembl	human	known	69_37n	nonsense	116	47.75	106	SNP	1.000	A
ZKSCAN1	7586	genome.wustl.edu	37	7	99621381	99621381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr7:99621381G>A	ENST00000324306.6	+	2	486	c.252G>A	c.(250-252)tgG>tgA	p.W84*	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Nonsense_Mutation_p.W48*	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	84	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GTCATCAGTGGCTGCGGCCAG	0.547																																						dbGAP											0													64.0	70.0	68.0					7																	99621381		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.252G>A	7.37:g.99621381G>A	ENSP00000323148:p.Trp84*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.W84*	ENST00000324306.6	37	c.252	CCDS34698.1	7	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687657	0.88639	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000432317	.	.	.	4.63	4.63	0.57726	.	0.000000	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.021	0.71630	0.0:0.0:1.0:0.0	.	.	.	.	X	84;48;84	.	ENSP00000323148:W84X	W	+	3	0	ZKSCAN1	99459317	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	6.459000	0.73513	2.398000	0.81561	0.484000	0.47621	TGG	ZKSCAN1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000106261		0.547	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	191	0.00	0	G	NM_003439		99621381	99621381	+1	no_errors	ENST00000324306	ensembl	human	known	69_37n	nonsense	116	47.75	106	SNP	1.000	A
ZNF558	148156	genome.wustl.edu	37	19	8923882	8923882	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr19:8923882delT	ENST00000601372.1	-	8	975	c.264delA	c.(262-264)aaafs	p.K88fs	ZNF558_ENST00000444186.2_Frame_Shift_Del_p.K17fs|ZNF558_ENST00000301475.1_Frame_Shift_Del_p.K88fs			Q96NG5	ZN558_HUMAN	zinc finger protein 558	88	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TCAGACTGGGTTTATTAACAC	0.433																																						dbGAP											0													160.0	128.0	139.0					19																	8923882		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.264delA	19.37:g.8923882delT	ENSP00000471277:p.Lys88fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5F0|B7Z798	Frame_Shift_Del	DEL	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.K88fs	ENST00000601372.1	37	c.264	CCDS12208.1	19																																																																																			ZNF558	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000167785		0.433	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF558	HGNC	protein_coding	OTTHUMT00000459955.2	13	0.00	0	T	NM_144693		8923882	8923882	-1	no_errors	ENST00000301475	ensembl	human	known	69_37n	frame_shift_del	18	33.33	9	DEL	0.956	-
ZNF558	148156	genome.wustl.edu	37	19	8923882	8923882	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr19:8923882delT	ENST00000601372.1	-	8	975	c.264delA	c.(262-264)aaafs	p.K88fs	ZNF558_ENST00000444186.2_Frame_Shift_Del_p.K17fs|ZNF558_ENST00000301475.1_Frame_Shift_Del_p.K88fs			Q96NG5	ZN558_HUMAN	zinc finger protein 558	88	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TCAGACTGGGTTTATTAACAC	0.433																																						dbGAP											0													160.0	128.0	139.0					19																	8923882		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.264delA	19.37:g.8923882delT	ENSP00000471277:p.Lys88fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5F0|B7Z798	Frame_Shift_Del	DEL	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.K88fs	ENST00000601372.1	37	c.264	CCDS12208.1	19																																																																																			ZNF558	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000167785		0.433	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF558	HGNC	protein_coding	OTTHUMT00000459955.2	21	0.00	0	T	NM_144693		8923882	8923882	-1	no_errors	ENST00000301475	ensembl	human	known	69_37n	frame_shift_del	18	33.33	9	DEL	0.956	-
ZNF506	440515	genome.wustl.edu	37	19	19906463	19906463	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr19:19906463T>C	ENST00000540806.2	-	4	321	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.Y46C|ZNF506_ENST00000443905.2_Missense_Mutation_p.Y78C|ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AAAATGAGAATACATAACTGA	0.294																																						dbGAP											0													29.0	30.0	30.0					19																	19906463		2091	4232	6323	-	-	-	SO:0001583	missense	0			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.233A>G	19.37:g.19906463T>C	ENSP00000440625:p.Tyr78Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTH6	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.Y78C	ENST00000540806.2	37	c.233	CCDS42531.1	19	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.942465	0.00003	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.06294	3.38;3.38;3.32	1.27	-2.55	0.06288	.	.	.	.	.	T	0.01523	0.0049	N	0.01242	-0.935	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.34229	-0.9837	9	0.06625	T	0.88	.	2.6637	0.05034	0.398:0.3911:0.0:0.2109	.	78;46	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	C	78;78;46	ENSP00000393835:Y78C;ENSP00000440625:Y78C;ENSP00000408892:Y46C	ENSP00000393835:Y78C	Y	-	2	0	ZNF506	19767463	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.269000	0.08596	-2.194000	0.00753	-2.287000	0.00268	TAT	ZNF506	-	NULL	ENSG00000081665		0.294	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	HGNC	protein_coding	OTTHUMT00000460794.1	76	0.00	0	T	XM_036218		19906463	19906463	-1	no_errors	ENST00000443905	ensembl	human	known	69_37n	missense	86	22.52	25	SNP	0.000	C
ZNF506	440515	genome.wustl.edu	37	19	19906463	19906463	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr19:19906463T>C	ENST00000540806.2	-	4	321	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.Y46C|ZNF506_ENST00000443905.2_Missense_Mutation_p.Y78C|ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AAAATGAGAATACATAACTGA	0.294																																						dbGAP											0													29.0	30.0	30.0					19																	19906463		2091	4232	6323	-	-	-	SO:0001583	missense	0			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.233A>G	19.37:g.19906463T>C	ENSP00000440625:p.Tyr78Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTH6	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.Y78C	ENST00000540806.2	37	c.233	CCDS42531.1	19	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.942465	0.00003	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.06294	3.38;3.38;3.32	1.27	-2.55	0.06288	.	.	.	.	.	T	0.01523	0.0049	N	0.01242	-0.935	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.34229	-0.9837	9	0.06625	T	0.88	.	2.6637	0.05034	0.398:0.3911:0.0:0.2109	.	78;46	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	C	78;78;46	ENSP00000393835:Y78C;ENSP00000440625:Y78C;ENSP00000408892:Y46C	ENSP00000393835:Y78C	Y	-	2	0	ZNF506	19767463	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.269000	0.08596	-2.194000	0.00753	-2.287000	0.00268	TAT	ZNF506	-	NULL	ENSG00000081665		0.294	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	HGNC	protein_coding	OTTHUMT00000460794.1	115	0.00	0	T	XM_036218		19906463	19906463	-1	no_errors	ENST00000443905	ensembl	human	known	69_37n	missense	187	25.79	65	SNP	0.000	C
ZNF506	440515	genome.wustl.edu	37	19	19906463	19906463	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr19:19906463T>C	ENST00000540806.2	-	4	321	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.Y46C|ZNF506_ENST00000443905.2_Missense_Mutation_p.Y78C|ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AAAATGAGAATACATAACTGA	0.294																																						dbGAP											0													29.0	30.0	30.0					19																	19906463		2091	4232	6323	-	-	-	SO:0001583	missense	0			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.233A>G	19.37:g.19906463T>C	ENSP00000440625:p.Tyr78Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTH6	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.Y78C	ENST00000540806.2	37	c.233	CCDS42531.1	19	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.942465	0.00003	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.06294	3.38;3.38;3.32	1.27	-2.55	0.06288	.	.	.	.	.	T	0.01523	0.0049	N	0.01242	-0.935	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.34229	-0.9837	9	0.06625	T	0.88	.	2.6637	0.05034	0.398:0.3911:0.0:0.2109	.	78;46	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	C	78;78;46	ENSP00000393835:Y78C;ENSP00000440625:Y78C;ENSP00000408892:Y46C	ENSP00000393835:Y78C	Y	-	2	0	ZNF506	19767463	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.269000	0.08596	-2.194000	0.00753	-2.287000	0.00268	TAT	ZNF506	-	NULL	ENSG00000081665		0.294	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	HGNC	protein_coding	OTTHUMT00000460794.1	245	0.41	1	T	XM_036218		19906463	19906463	-1	no_errors	ENST00000443905	ensembl	human	known	69_37n	missense	187	25.79	65	SNP	0.000	C
ZNF432	9668	genome.wustl.edu	37	19	52537525	52537525	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr19:52537525C>G	ENST00000594154.1	-	5	1619	c.1407G>C	c.(1405-1407)aaG>aaC	p.K469N	ZNF432_ENST00000221315.5_Missense_Mutation_p.K469N			O94892	ZN432_HUMAN	zinc finger protein 432	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCAGCCGACTCTTCAAGGGGA	0.453																																						dbGAP											0													69.0	64.0	65.0					19																	52537525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1407G>C	19.37:g.52537525C>G	ENSP00000470488:p.Lys469Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		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.K469N	ENST00000594154.1	37	c.1407	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042527	0.35989	.	.	ENSG00000256087	ENST00000221315	T	0.13778	2.56	2.81	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25082	0.0609	M	0.66506	2.035	0.09310	N	1	D	0.69078	0.997	P	0.59643	0.861	T	0.08146	-1.0736	9	0.34782	T	0.22	.	5.8772	0.18836	0.0:0.7368:0.0:0.2632	.	469	O94892	ZN432_HUMAN	N	469	ENSP00000221315:K469N	ENSP00000221315:K469N	K	-	3	2	ZNF432	57229337	0.000000	0.05858	0.997000	0.53966	0.960000	0.62799	-0.476000	0.06591	0.513000	0.28278	0.655000	0.94253	AAG	ZNF432	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256087		0.453	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	77	0.00	0	C	NM_014650		52537525	52537525	-1	no_errors	ENST00000221315	ensembl	human	known	69_37n	missense	74	10.84	9	SNP	0.007	G
ZNF432	9668	genome.wustl.edu	37	19	52537525	52537525	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr19:52537525C>G	ENST00000594154.1	-	5	1619	c.1407G>C	c.(1405-1407)aaG>aaC	p.K469N	ZNF432_ENST00000221315.5_Missense_Mutation_p.K469N			O94892	ZN432_HUMAN	zinc finger protein 432	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCAGCCGACTCTTCAAGGGGA	0.453																																						dbGAP											0													69.0	64.0	65.0					19																	52537525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1407G>C	19.37:g.52537525C>G	ENSP00000470488:p.Lys469Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		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.K469N	ENST00000594154.1	37	c.1407	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042527	0.35989	.	.	ENSG00000256087	ENST00000221315	T	0.13778	2.56	2.81	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25082	0.0609	M	0.66506	2.035	0.09310	N	1	D	0.69078	0.997	P	0.59643	0.861	T	0.08146	-1.0736	9	0.34782	T	0.22	.	5.8772	0.18836	0.0:0.7368:0.0:0.2632	.	469	O94892	ZN432_HUMAN	N	469	ENSP00000221315:K469N	ENSP00000221315:K469N	K	-	3	2	ZNF432	57229337	0.000000	0.05858	0.997000	0.53966	0.960000	0.62799	-0.476000	0.06591	0.513000	0.28278	0.655000	0.94253	AAG	ZNF432	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256087		0.453	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	255	0.00	0	C	NM_014650		52537525	52537525	-1	no_errors	ENST00000221315	ensembl	human	known	69_37n	missense	252	13.95	41	SNP	0.007	G
ZNF432	9668	genome.wustl.edu	37	19	52537525	52537525	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr19:52537525C>G	ENST00000594154.1	-	5	1619	c.1407G>C	c.(1405-1407)aaG>aaC	p.K469N	ZNF432_ENST00000221315.5_Missense_Mutation_p.K469N			O94892	ZN432_HUMAN	zinc finger protein 432	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCAGCCGACTCTTCAAGGGGA	0.453																																						dbGAP											0													69.0	64.0	65.0					19																	52537525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1407G>C	19.37:g.52537525C>G	ENSP00000470488:p.Lys469Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		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.K469N	ENST00000594154.1	37	c.1407	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042527	0.35989	.	.	ENSG00000256087	ENST00000221315	T	0.13778	2.56	2.81	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25082	0.0609	M	0.66506	2.035	0.09310	N	1	D	0.69078	0.997	P	0.59643	0.861	T	0.08146	-1.0736	9	0.34782	T	0.22	.	5.8772	0.18836	0.0:0.7368:0.0:0.2632	.	469	O94892	ZN432_HUMAN	N	469	ENSP00000221315:K469N	ENSP00000221315:K469N	K	-	3	2	ZNF432	57229337	0.000000	0.05858	0.997000	0.53966	0.960000	0.62799	-0.476000	0.06591	0.513000	0.28278	0.655000	0.94253	AAG	ZNF432	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256087		0.453	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	368	0.00	0	C	NM_014650		52537525	52537525	-1	no_errors	ENST00000221315	ensembl	human	known	69_37n	missense	252	13.95	41	SNP	0.007	G
ZNF749	388567	genome.wustl.edu	37	19	57956493	57956493	+	Silent	SNP	G	G	A	rs569086388		TCGA-A7-A0DB-01A-11D-A272-09	TCGA-A7-A0DB-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1	b9e04a17-821c-4e9f-a161-459e74727817	g.chr19:57956493G>A	ENST00000334181.4	+	3	2227	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTATTCATCAGAGAGTTCATA	0.383																																						dbGAP											0													43.0	45.0	45.0					19																	57956493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1977G>A	19.37:g.57956493G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q659	ENST00000334181.4	37	c.1977	CCDS33132.2	19																																																																																			ZNF749	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186230		0.383	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	16	0.00	0	G	NM_001023561		57956493	57956493	+1	no_errors	ENST00000334181	ensembl	human	known	69_37n	silent	27	27.03	10	SNP	0.020	A
ZNF749	388567	genome.wustl.edu	37	19	57956493	57956493	+	Silent	SNP	G	G	A	rs569086388		TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	3e6c153e-7921-4d16-8d7e-157736e3aa65	g.chr19:57956493G>A	ENST00000334181.4	+	3	2227	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTATTCATCAGAGAGTTCATA	0.383																																						dbGAP											0													43.0	45.0	45.0					19																	57956493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1977G>A	19.37:g.57956493G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q659	ENST00000334181.4	37	c.1977	CCDS33132.2	19																																																																																			ZNF749	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186230		0.383	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	559	0.00	0	G	NM_001023561		57956493	57956493	+1	no_errors	ENST00000334181	ensembl	human	known	69_37n	silent	369	20.22	94	SNP	0.020	A
ZNF749	388567	genome.wustl.edu	37	19	57956493	57956493	+	Silent	SNP	G	G	A	rs569086388		TCGA-A7-A0DB-01A-11W-A019-09	TCGA-A7-A0DB-11A-33W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2	edde29ab-1a7a-4be0-870c-e4256460754e	g.chr19:57956493G>A	ENST00000334181.4	+	3	2227	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTATTCATCAGAGAGTTCATA	0.383																																						dbGAP											0													43.0	45.0	45.0					19																	57956493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1977G>A	19.37:g.57956493G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q659	ENST00000334181.4	37	c.1977	CCDS33132.2	19																																																																																			ZNF749	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186230		0.383	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	323	0.00	0	G	NM_001023561		57956493	57956493	+1	no_errors	ENST00000334181	ensembl	human	known	69_37n	silent	369	20.22	94	SNP	0.020	A
