#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
AGRP	181	genome.wustl.edu	37	16	67517232	67517233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr16:67517232_67517233insT	ENST00000290953.2	-	2	368_369	c.69_70insA	c.(67-72)atgggcfs	p.G24fs	ATP6V0D1_ENST00000540149.1_5'Flank|ATP6V0D1_ENST00000290949.3_5'Flank|RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related neuropeptide	24					adult feeding behavior (GO:0008343)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|hormone-mediated signaling pathway (GO:0009755)|maternal process involved in female pregnancy (GO:0060135)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of feeding behavior (GO:2000253)|regulation of feeding behavior (GO:0060259)|response to insulin (GO:0032868)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		GGGGCCAAGCCCATCTGGGCTC	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U88063	CCDS10839.1	16q22	2014-07-15	2014-07-15		ENSG00000159723	ENSG00000159723		"""Endogenous ligands"""	330	protein-coding gene	gene with protein product		602311	"""agouti (mouse) related protein"", ""agouti related protein homolog (mouse)"""			9119224, 9311920	Standard	NM_001138		Approved	Agrt, ART, ASIP2	uc002etg.1	O00253	OTTHUMG00000137509	ENST00000290953.2:c.69_70insA	16.37:g.67517232_67517233insT	ENSP00000290953:p.Gly24fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15459|Q2TBD9	Frame_Shift_Ins	INS	pfam_Agouti,superfamily_Agouti,smart_Agouti,pfscan_Agouti	p.G23fs	ENST00000290953.2	37	c.70_69	CCDS10839.1	16																																																																																			AGRP	-	pfam_Agouti,smart_Agouti	ENSG00000159723		0.653	AGRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRP	HGNC	protein_coding	OTTHUMT00000268828.1	16	0.00	0	-			67517232	67517233	-1	no_errors	ENST00000290953	ensembl	human	known	69_37n	frame_shift_ins	13	35.00	7	INS	0.003:0.003	T
AJAP1	55966	genome.wustl.edu	37	1	4772340	4772340	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr1:4772340C>T	ENST00000378191.4	+	2	791	c.410C>T	c.(409-411)tCg>tTg	p.S137L	AJAP1_ENST00000378190.3_Missense_Mutation_p.S137L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	137					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCCTCGTCCTCGTCCTCCGCG	0.716																																						dbGAP											0													8.0	8.0	8.0					1																	4772340		2097	4138	6235	-	-	-	SO:0001583	missense	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.410C>T	1.37:g.4772340C>T	ENSP00000367433:p.Ser137Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y229	Missense_Mutation	SNP	NULL	p.S137L	ENST00000378191.4	37	c.410	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383411	0.25031	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.47177	0.85;0.85	3.38	2.44	0.29823	.	1.418800	0.04673	N	0.411082	T	0.32496	0.0831	N	0.19112	0.55	0.09310	N	1	B	0.31413	0.322	B	0.23018	0.043	T	0.22417	-1.0217	10	0.35671	T	0.21	-0.0707	8.787	0.34827	0.0:0.7691:0.2309:0.0	.	137	Q9UKB5	AJAP1_HUMAN	L	137	ENSP00000367432:S137L;ENSP00000367433:S137L	ENSP00000367432:S137L	S	+	2	0	AJAP1	4672200	0.027000	0.19231	0.002000	0.10522	0.609000	0.37215	2.383000	0.44354	0.944000	0.37579	0.563000	0.77884	TCG	AJAP1	-	NULL	ENSG00000196581		0.716	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	9	0.00	0	C	NM_018836		4772340	4772340	+1	no_errors	ENST00000378190	ensembl	human	known	69_37n	missense	1	80.00	4	SNP	0.005	T
ALDOB	229	genome.wustl.edu	37	9	104184143	104184143	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr9:104184143G>A	ENST00000374855.4	-	9	1167	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	348				S -> C (in Ref. 4; BAA00125). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGCCCCAGAAGAACCCGTGTG	0.542																																						dbGAP											0													103.0	98.0	100.0					9																	104184143		2203	4300	6503	-	-	-	SO:0001583	missense	0			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.1043C>T	9.37:g.104184143G>A	ENSP00000363988:p.Ser348Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	pfam_Aldolase_I	p.S348F	ENST00000374855.4	37	c.1043	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	G	9.890	1.203858	0.22121	.	.	ENSG00000136872	ENST00000374855	D	0.86366	-2.11	5.7	5.7	0.88788	.	0.228491	0.47455	D	0.000239	T	0.82167	0.4978	L	0.45352	1.415	0.35550	D	0.803762	P	0.35959	0.53	B	0.33750	0.169	D	0.86667	0.1908	10	0.59425	D	0.04	-16.4874	12.4512	0.55679	0.0:0.0:0.7363:0.2637	.	348	P05062	ALDOB_HUMAN	F	348	ENSP00000363988:S348F	ENSP00000363988:S348F	S	-	2	0	ALDOB	103223964	0.969000	0.33509	0.954000	0.39281	0.005000	0.04900	4.195000	0.58400	2.680000	0.91292	0.563000	0.77884	TCT	ALDOB	-	pfam_Aldolase_I	ENSG00000136872		0.542	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	191	0.00	0	G			104184143	104184143	-1	no_errors	ENST00000374855	ensembl	human	known	69_37n	missense	297	21.84	83	SNP	0.538	A
ARR3	407	genome.wustl.edu	37	X	69501557	69501557	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chrX:69501557C>T	ENST00000307959.8	+	17	1159	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	RAB41_ENST00000276066.4_5'Flank|RAB41_ENST00000374473.2_5'Flank	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	370					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GGAGTTTACGCGGAAAGGCGA	0.587																																						dbGAP											0													75.0	52.0	60.0					X																	69501557		2198	4291	6489	-	-	-	SO:0001583	missense	0				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.1108C>T	X.37:g.69501557C>T	ENSP00000311538:p.Arg370Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.R370W	ENST00000307959.8	37	c.1108	CCDS14399.1	X	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774586	0.49786	.	.	ENSG00000120500	ENST00000374480;ENST00000307959	T	0.12039	2.72	3.4	-1.87	0.07737	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.999489	0.08098	N	0.998335	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	P	0.53146	0.719	T	0.17623	-1.0363	10	0.87932	D	0	-22.4671	3.9798	0.09490	0.1725:0.3879:0.0:0.4396	.	370	P36575	ARRC_HUMAN	W	370	ENSP00000311538:R370W	ENSP00000311538:R370W	R	+	1	2	ARR3	69418282	0.047000	0.20315	0.000000	0.03702	0.020000	0.10135	0.528000	0.23002	-0.664000	0.05324	0.600000	0.82982	CGG	ARR3	-	superfamily_Ig_E-set,prints_Arrestin	ENSG00000120500		0.587	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARR3	HGNC	protein_coding	OTTHUMT00000057055.2	243	0.00	0	C	NM_004312		69501557	69501557	+1	no_errors	ENST00000307959	ensembl	human	known	69_37n	missense	359	21.27	97	SNP	0.002	T
BCAS1	8537	genome.wustl.edu	37	20	52644991	52644991	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr20:52644991T>G	ENST00000395961.3	-	4	829	c.663A>C	c.(661-663)caA>caC	p.Q221H	BCAS1_ENST00000371440.3_Missense_Mutation_p.Q221H|BCAS1_ENST00000371435.2_Missense_Mutation_p.Q221H|BCAS1_ENST00000411563.1_Missense_Mutation_p.Q124H	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	221						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCACCTTGTCTTGATGCTCTG	0.512																																						dbGAP											0													324.0	280.0	295.0					20																	52644991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.663A>C	20.37:g.52644991T>G	ENSP00000379290:p.Gln221His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG5|Q68CZ3	Missense_Mutation	SNP	NULL	p.Q221H	ENST00000395961.3	37	c.663	CCDS13444.1	20	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085122	0.36758	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	5.11	-10.2	0.00374	.	1.136100	0.06540	N	0.743009	T	0.02688	0.0081	N	0.16478	0.41	0.09310	N	1	B;B;B;B;B;B	0.17852	0.002;0.002;0.002;0.024;0.006;0.006	B;B;B;B;B;B	0.14578	0.005;0.002;0.002;0.011;0.009;0.009	T	0.40572	-0.9556	10	0.28530	T	0.3	3.1236	3.2162	0.06700	0.1935:0.4456:0.1958:0.1651	.	124;221;221;221;221;221	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	H	83;221;99;221;221;124	ENSP00000396361:Q83H;ENSP00000360495:Q221H;ENSP00000379290:Q221H;ENSP00000360490:Q221H;ENSP00000397442:Q124H	ENSP00000360490:Q221H	Q	-	3	2	BCAS1	52078398	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-3.179000	0.00569	-1.825000	0.01207	0.460000	0.39030	CAA	BCAS1	-	NULL	ENSG00000064787		0.512	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	288	0.00	0	T	NM_003657		52644991	52644991	-1	no_errors	ENST00000371440	ensembl	human	known	69_37n	missense	362	17.91	79	SNP	0.000	G
C15orf39	56905	genome.wustl.edu	37	15	75503112	75503113	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr15:75503112_75503113insT	ENST00000360639.2	+	3	3119_3120	c.2799_2800insT	c.(2800-2802)gctfs	p.A934fs	C15orf39_ENST00000567617.1_3'UTR|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000394987.4_Frame_Shift_Ins_p.A934fs			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	934						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGAGGCTGGAGCTGTGTCCTC	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	Exception_encountered	15.37:g.75503112_75503113insT	ENSP00000353854:p.Ala934fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Frame_Shift_Ins	INS	NULL	p.A933fs	ENST00000360639.2	37	c.2799_2800	CCDS10276.1	15																																																																																			C15orf39	-	NULL	ENSG00000167173		0.594	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1	110	0.00	0	-	NM_015492		75503112	75503113	+1	no_errors	ENST00000360639	ensembl	human	known	69_37n	frame_shift_ins	24	29.41	10	INS	0.003:0.002	T
C15orf39	56905	genome.wustl.edu	37	15	75503113	75503114	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr15:75503113_75503114insC	ENST00000360639.2	+	3	3120_3121	c.2800_2801insC	c.(2800-2802)gctfs	p.A934fs	C15orf39_ENST00000567617.1_3'UTR|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000394987.4_Frame_Shift_Ins_p.A934fs			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	934						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGAGGCTGGAGCTGTGTCCTCC	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2801dupC	15.37:g.75503114_75503114dupC	ENSP00000353854:p.Ala934fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Frame_Shift_Ins	INS	NULL	p.V935fs	ENST00000360639.2	37	c.2800_2801	CCDS10276.1	15																																																																																			C15orf39	-	NULL	ENSG00000167173		0.594	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1	106	0.00	0	-	NM_015492		75503113	75503114	+1	no_errors	ENST00000360639	ensembl	human	known	69_37n	frame_shift_ins	24	29.41	10	INS	0.002:0.004	C
CD4	920	genome.wustl.edu	37	12	6926435	6926435	+	Silent	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr12:6926435G>A	ENST00000011653.4	+	7	1353	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	365	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	ACCCTGAGGCGGGGATGTGGC	0.592																																						dbGAP											0													73.0	59.0	63.0					12																	6926435		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1095G>A	12.37:g.6926435G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4	p.A365	ENST00000011653.4	37	c.1095	CCDS8562.1	12																																																																																			CD4	-	pfam_Ig_C2-set,prints_Ag_CD4	ENSG00000010610		0.592	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	204	0.00	0	G	NM_000616		6926435	6926435	+1	no_errors	ENST00000011653	ensembl	human	known	69_37n	silent	688	39.17	445	SNP	0.001	A
CNTNAP5	129684	genome.wustl.edu	37	2	125555732	125555732	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr2:125555732C>T	ENST00000431078.1	+	19	3413	c.3049C>T	c.(3049-3051)Cct>Tct	p.P1017S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1017	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGAACCCTATCCTGTGACCAA	0.438																																						dbGAP											0													135.0	124.0	128.0					2																	125555732		1920	4120	6040	-	-	-	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3049C>T	2.37:g.125555732C>T	ENSP00000399013:p.Pro1017Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.P1017S	ENST00000431078.1	37	c.3049	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	2.283	-0.364333	0.05103	.	.	ENSG00000155052	ENST00000431078	T	0.38722	1.12	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.135008	0.33364	N	0.004998	T	0.31734	0.0806	L	0.27053	0.805	0.18873	N	0.999986	B	0.16396	0.017	B	0.12156	0.007	T	0.12319	-1.0552	10	0.08599	T	0.76	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	1017	Q8WYK1	CNTP5_HUMAN	S	1017	ENSP00000399013:P1017S	ENSP00000399013:P1017S	P	+	1	0	CNTNAP5	125272202	0.870000	0.30015	0.846000	0.33378	0.989000	0.77384	3.572000	0.53849	2.814000	0.96858	0.655000	0.94253	CCT	CNTNAP5	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000155052		0.438	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	463	0.00	0	C			125555732	125555732	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	missense	233	17.96	51	SNP	0.210	T
COL11A1	1301	genome.wustl.edu	37	1	103474022	103474022	+	Silent	SNP	A	A	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr1:103474022A>C	ENST00000370096.3	-	15	1992	c.1680T>G	c.(1678-1680)ccT>ccG	p.P560P	COL11A1_ENST00000353414.4_Silent_p.P521P|COL11A1_ENST00000512756.1_Silent_p.P444P|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Silent_p.P572P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	560	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTTACCTGAGGACCTGGAT	0.358																																						dbGAP											0													43.0	51.0	48.0					1																	103474022		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1680T>G	1.37:g.103474022A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.P572	ENST00000370096.3	37	c.1716	CCDS778.1	1																																																																																			COL11A1	-	pfam_Collagen	ENSG00000060718		0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	113	0.00	0	A	NM_080630		103474022	103474022	-1	no_errors	ENST00000358392	ensembl	human	known	69_37n	silent	111	22.76	33	SNP	1.000	C
DAP	1611	genome.wustl.edu	37	5	10681194	10681195	+	In_Frame_Ins	INS	-	-	CTC			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr5:10681194_10681195insCTC	ENST00000230895.6	-	4	485_486	c.282_283insGAG	c.(280-285)acccag>accGAGcag	p.94_95TQ>TEQ	DAP_ENST00000432074.2_In_Frame_Ins_p.81_82insS	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	94					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cellular response to amino acid starvation (GO:0034198)|negative regulation of autophagy (GO:0010507)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)		death domain binding (GO:0070513)			endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				TGGATGTGCTGGGTTCTTGGGG	0.614																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			X76105	CCDS3880.1	5p15.2	2008-07-18			ENSG00000112977	ENSG00000112977			2672	protein-coding gene	gene with protein product		600954				8530096, 7828849	Standard	NM_004394		Approved		uc003jez.4	P51397	OTTHUMG00000131041	ENST00000230895.6:c.282_283insGAG	5.37:g.10681194_10681195insCTC	ENSP00000230895:p.Thr94_Gln95insGlu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGC3|Q9BUC9	In_Frame_Ins	INS	NULL	p.94in_frame_insE	ENST00000230895.6	37	c.283_282	CCDS3880.1	5																																																																																			DAP	-	NULL	ENSG00000112977		0.614	DAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP	HGNC	protein_coding	OTTHUMT00000253687.1	222	0.00	0	-	NM_004394		10681194	10681195	-1	no_errors	ENST00000230895	ensembl	human	known	69_37n	in_frame_ins	103	29.45	43	INS	0.997:0.801	CTC
DCC	1630	genome.wustl.edu	37	18	50731687	50731687	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr18:50731687C>A	ENST00000442544.2	+	10	2291	c.1675C>A	c.(1675-1677)Caa>Aaa	p.Q559K	DCC_ENST00000581580.1_Missense_Mutation_p.Q214K|DCC_ENST00000412726.1_Missense_Mutation_p.Q407K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	559	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGGTCCAGTCCAAGGTTACAG	0.488																																						dbGAP											0													200.0	186.0	191.0					18																	50731687		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1675C>A	18.37:g.50731687C>A	ENSP00000389140:p.Gln559Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q559K	ENST00000442544.2	37	c.1675	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882619	0.51908	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56444	0.46;0.46	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.081826	0.52532	D	0.000078	T	0.54822	0.1882	L	0.58925	1.835	0.43444	D	0.995622	B;B;B	0.33612	0.016;0.016;0.419	B;B;B	0.42361	0.02;0.02;0.385	T	0.49679	-0.8914	10	0.02654	T	1	.	18.7793	0.91925	0.0:1.0:0.0:0.0	.	407;407;559	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	559;492;407	ENSP00000389140:Q559K;ENSP00000397322:Q407K	ENSP00000304146:Q492K	Q	+	1	0	DCC	48985685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.458000	0.73509	2.722000	0.93159	0.655000	0.94253	CAA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	347	0.29	1	C	NM_005215		50731687	50731687	+1	no_errors	ENST00000442544	ensembl	human	known	69_37n	missense	236	18.34	53	SNP	1.000	A
DCHS1	8642	genome.wustl.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs188153920|rs143767864	byFrequency	TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)cggfs	p.R235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)								14,4250		0,14,2118						4.7	0.9			101	0,8254		0,0,4127	no	frameshift	DCHS1	NM_003737.2		0,14,6245	A1A1,A1R,RR		0.0,0.3283,0.1118				14,12504				-	-	-	SO:0001589	frameshift_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704dupC	11.37:g.6662148_6662148dupG	ENSP00000299441:p.Arg235fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Frame_Shift_Ins	INS	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R235fs	ENST00000299441.3	37	c.704_703	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.589	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	70	0.00	0	-	NM_003737		6662141	6662142	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	frame_shift_ins	43	14.00	7	INS	0.999:0.606	G
DIDO1	11083	genome.wustl.edu	37	20	61537437	61537438	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr20:61537437_61537438insT	ENST00000266070.4	-	6	1714_1715	c.1389_1390insA	c.(1387-1392)atctctfs	p.S464fs	DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.S464fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.S464fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.S464fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.S464fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.S464fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.S464fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.S464fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.S464fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	464					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCACAGAAGAGATTTTAATAC	0.465																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1389_1390insA	20.37:g.61537437_61537438insT	ENSP00000266070:p.Ser464fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.S463fs	ENST00000266070.4	37	c.1390_1389	CCDS33506.1	20																																																																																			DIDO1	-	NULL	ENSG00000101191		0.465	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	84	0.00	0	-	NM_080796		61537437	61537438	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	frame_shift_ins	136	57.63	185	INS	0.995:0.993	T
DNM1P46	196968	genome.wustl.edu	37	15	100340123	100340125	+	RNA	DEL	AGA	AGA	-	rs368425453		TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr15:100340123_100340125delAGA	ENST00000341853.1	-	0	801_803					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										AGCAGCTCCGAGAAGATGAACTC	0.611																																						dbGAP											0																																										-	-	-			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340126_100340128delAGA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCN3	RNA	DEL	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.611	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	8	0.00	0	AGA	NR_003260		100340123	100340125	-1	no_errors	ENST00000341853	ensembl	human	known	69_37n	rna	3	50.00	3	DEL	0.899:0.883:0.880	-
DOCK11	139818	genome.wustl.edu	37	X	117742260	117742260	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chrX:117742260A>G	ENST00000276202.7	+	26	2881	c.2818A>G	c.(2818-2820)Acg>Gcg	p.T940A	DOCK11_ENST00000276204.6_Missense_Mutation_p.T940A	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	940					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCTGGCTACTACGATGATAGC	0.378																																						dbGAP											0													77.0	76.0	76.0					X																	117742260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2818A>G	X.37:g.117742260A>G	ENSP00000276202:p.Thr940Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T940A	ENST00000276202.7	37	c.2818	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	A	0.161	-1.081534	0.01888	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.04083	3.71;3.71	5.72	3.0	0.34707	.	0.260386	0.44902	D	0.000403	T	0.01489	0.0048	N	0.01751	-0.74	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47169	-0.9138	10	0.07030	T	0.85	-25.2575	4.7611	0.13108	0.591:0.0:0.1109:0.2981	.	940;940	A6NIW2;Q5JSL3	.;DOC11_HUMAN	A	940	ENSP00000276204:T940A;ENSP00000276202:T940A	ENSP00000276202:T940A	T	+	1	0	DOCK11	117626288	0.818000	0.29161	0.318000	0.25279	0.134000	0.20937	1.414000	0.34736	0.839000	0.34971	0.486000	0.48141	ACG	DOCK11	-	NULL	ENSG00000147251		0.378	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	134	0.00	0	A	NM_144658		117742260	117742260	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	missense	206	19.53	50	SNP	0.197	G
ENPP1	5167	genome.wustl.edu	37	6	132201019	132201019	+	Splice_Site	SNP	G	G	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr6:132201019G>C	ENST00000360971.2	+	20	1965		c.e20-1			NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGTGACCCAAGAGAAGATTAT	0.353																																					Colon(104;336 1535 5856 11019 33782)	dbGAP											0													96.0	94.0	95.0					6																	132201019		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1946-1G>C	6.37:g.132201019G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Splice_Site	SNP	-	e20-1	ENST00000360971.2	37	c.1946-1	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777084	0.31411	.	.	ENSG00000197594	ENST00000360971	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.245	0.73499	0.0:0.1401:0.8599:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENPP1	132242712	1.000000	0.71417	0.999000	0.59377	0.200000	0.23975	4.435000	0.59941	2.761000	0.94854	0.563000	0.77884	.	ENPP1	-	-	ENSG00000197594		0.353	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	164	0.00	0	G		Intron	132201019	132201019	+1	no_errors	ENST00000360971	ensembl	human	known	69_37n	splice_site	137	71.84	352	SNP	1.000	C
FAM47B	170062	genome.wustl.edu	37	X	34962204	34962204	+	Missense_Mutation	SNP	G	G	A	rs146264202	byFrequency	TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chrX:34962204G>A	ENST00000329357.5	+	1	1292	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	419										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAGACTCGTCGGGTGTCCAGT	0.562																																						dbGAP											0													69.0	62.0	65.0					X																	34962204		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1256G>A	X.37:g.34962204G>A	ENSP00000328307:p.Arg419Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	NULL	p.R419Q	ENST00000329357.5	37	c.1256	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	G	4.508	0.094292	0.08632	.	.	ENSG00000189132	ENST00000329357	T	0.15487	2.42	0.158	0.158	0.14942	.	.	.	.	.	T	0.11665	0.0284	L	0.47716	1.5	0.09310	N	1	B	0.26258	0.145	B	0.13407	0.009	T	0.37220	-0.9715	8	0.14252	T	0.57	.	.	.	.	.	419	Q8NA70	FA47B_HUMAN	Q	419	ENSP00000328307:R419Q	ENSP00000328307:R419Q	R	+	2	0	FAM47B	34872125	0.021000	0.18746	0.001000	0.08648	0.002000	0.02628	0.287000	0.18920	0.187000	0.20147	0.190000	0.17370	CGG	FAM47B	-	NULL	ENSG00000189132		0.562	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	146	0.00	0	G	NM_152631		34962204	34962204	+1	no_errors	ENST00000329357	ensembl	human	known	69_37n	missense	155	19.27	37	SNP	0.001	A
FBXO21	23014	genome.wustl.edu	37	12	117624363	117624363	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr12:117624363C>T	ENST00000330622.5	-	3	388	c.389G>A	c.(388-390)gGc>gAc	p.G130D	FBXO21_ENST00000427718.2_Missense_Mutation_p.G130D|FBXO21_ENST00000549689.1_5'UTR			O94952	FBX21_HUMAN	F-box protein 21	130					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTCACTGAAGCCATTACAAGG	0.378																																					GBM(168;452 2038 13535 17701 43680)	dbGAP											0													79.0	78.0	78.0					12																	117624363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.389G>A	12.37:g.117624363C>T	ENSP00000328187:p.Gly130Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMF0|Q5BJG0|Q9H087	Nonsense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,tigrfam_Hemimethylated_DNA-bd_dom	p.W73*	ENST00000330622.5	37	c.219	CCDS9184.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.442008|4.442008	0.83993|0.83993	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622|ENST00000550180	T;T|.	0.39229|.	1.09;1.1|.	5.4|5.4	5.4|5.4	0.78164|0.78164	F-box domain, Skp2-like (1);|.	0.187962|.	0.46758|.	D|.	0.000275|.	T|.	0.67942|.	0.2947|.	L|L	0.44542|0.44542	1.39|1.39	0.50171|0.50171	D|D	0.999851|0.999851	P;D;D|.	0.69078|.	0.919;0.997;0.98|.	P;P;P|.	0.57152|.	0.477;0.792;0.814|.	T|.	0.63800|.	-0.6555|.	10|.	0.16896|.	T|.	0.51|.	-3.0642|-3.0642	18.7754|18.7754	0.91910|0.91910	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	46;130;130|.	Q8IUQ5;O94952;O94952-1|.	.;FBX21_HUMAN;.|.	D|X	130;46;46;130|73	ENSP00000414468:G130D;ENSP00000328187:G130D|.	ENSP00000257563:G46D|.	G|W	-|-	2|3	0|0	FBXO21|FBXO21	116108746|116108746	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	4.803000|4.803000	0.62546|0.62546	2.520000|2.520000	0.84964|0.84964	0.655000|0.655000	0.94253|0.94253	GGC|TGG	FBXO21	-	NULL	ENSG00000135108		0.378	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	289	0.00	0	C	NM_033624		117624363	117624363	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000550180	ensembl	human	novel	69_37n	nonsense	104	28.77	42	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40370213	40370213	+	Silent	SNP	G	G	A	rs28465604	byFrequency	TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr19:40370213G>A	ENST00000221347.6	-	27	12460	c.12453C>T	c.(12451-12453)gaC>gaT	p.D4151D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4151	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCGATCTCGTCCTTGTGGA	0.617																																						dbGAP											0													6.0	8.0	8.0					19																	40370213		1740	3730	5470	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12453C>T	19.37:g.40370213G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.D4151	ENST00000221347.6	37	c.12453	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	12	0.00	0	G	NM_003890		40370213	40370213	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	16	40.74	11	SNP	0.059	A
FMNL3	91010	genome.wustl.edu	37	12	50050614	50050614	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr12:50050614C>G	ENST00000293590.5	-	8	1016	c.783G>C	c.(781-783)aaG>aaC	p.K261N	FMNL3_ENST00000550488.1_Missense_Mutation_p.K261N|FMNL3_ENST00000335154.5_Missense_Mutation_p.K261N|FMNL3_ENST00000352151.5_Missense_Mutation_p.K210N			Q8IVF7	FMNL3_HUMAN	formin-like 3	261	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ACCTTGGATTCTTGTTATTGA	0.522																																						dbGAP											0													166.0	181.0	176.0					12																	50050614		2013	4192	6205	-	-	-	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.783G>C	12.37:g.50050614C>G	ENSP00000293590:p.Lys261Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.K261N	ENST00000293590.5	37	c.783		12	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608598	0.46527	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.43	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.87613	0.6221	N	0.20401	0.57	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.99	D	0.87762	0.2599	10	0.44086	T	0.13	.	13.302	0.60330	0.0:0.9222:0.0:0.0778	.	210;261	Q8IVF7-2;Q8IVF7-3	.;.	N	261;261;210;261	ENSP00000335655:K261N;ENSP00000447479:K261N;ENSP00000344311:K210N;ENSP00000293590:K261N	ENSP00000293590:K261N	K	-	3	2	FMNL3	48336881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.196000	0.51020	1.457000	0.47850	0.655000	0.94253	AAG	FMNL3	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold	ENSG00000161791		0.522	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		506	0.00	0	C	NM_175736		50050614	50050614	-1	no_errors	ENST00000293590	ensembl	human	known	69_37n	missense	352	35.29	192	SNP	1.000	G
GIMAP1	170575	genome.wustl.edu	37	7	150417637	150417637	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr7:150417637G>T	ENST00000307194.5	+	3	685	c.545G>T	c.(544-546)gGg>gTg	p.G182V		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	182	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGAGTGCGGGGGCCGGGTC	0.672																																						dbGAP											0													32.0	39.0	37.0					7																	150417637		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.545G>T	7.37:g.150417637G>T	ENSP00000302833:p.Gly182Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI3|Q8NAZ0	Missense_Mutation	SNP	pfam_AIG1	p.G182V	ENST00000307194.5	37	c.545	CCDS5906.1	7	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839752	0.32513	.	.	ENSG00000213203	ENST00000307194	T	0.06768	3.26	4.81	3.03	0.35002	AIG1 (1);	0.983461	0.08271	U	0.971370	T	0.39572	0.1083	H	0.95982	3.75	0.19300	N	0.999979	D	0.69078	0.997	D	0.74674	0.984	T	0.09015	-1.0694	10	0.72032	D	0.01	.	7.1906	0.25824	0.2:0.0:0.8:0.0	.	182	Q8WWP7	GIMA1_HUMAN	V	182	ENSP00000302833:G182V	ENSP00000302833:G182V	G	+	2	0	GIMAP1	150048570	0.000000	0.05858	0.727000	0.30756	0.261000	0.26267	-0.035000	0.12205	0.667000	0.31107	-0.142000	0.14014	GGG	GIMAP1	-	pfam_AIG1	ENSG00000213203		0.672	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP1	HGNC	protein_coding	OTTHUMT00000348951.2	42	0.00	0	G	NM_130759		150417637	150417637	+1	no_errors	ENST00000307194	ensembl	human	known	69_37n	missense	41	20.75	11	SNP	0.000	T
GPC4	2239	genome.wustl.edu	37	X	132458221	132458221	+	Silent	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chrX:132458221G>A	ENST00000370828.3	-	3	1187	c.663C>T	c.(661-663)ttC>ttT	p.F221F	GPC4_ENST00000535467.1_Silent_p.F151F	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	221					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					AGCCTTGAGCGAAAGTACGGG	0.478																																						dbGAP											0													91.0	83.0	86.0					X																	132458221		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.663C>T	X.37:g.132458221G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Silent	SNP	pfam_Glypican	p.F221	ENST00000370828.3	37	c.663	CCDS14637.1	X																																																																																			GPC4	-	pfam_Glypican	ENSG00000076716		0.478	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC4	HGNC	protein_coding	OTTHUMT00000058338.1	133	0.00	0	G	NM_001448		132458221	132458221	-1	no_errors	ENST00000370828	ensembl	human	known	69_37n	silent	218	11.38	28	SNP	0.999	A
GRIK5	2901	genome.wustl.edu	37	19	42558011	42558011	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr19:42558011C>T	ENST00000262895.3	-	9	1126	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	GRIK5_ENST00000301218.4_Missense_Mutation_p.R376H|GRIK5_ENST00000593562.1_Missense_Mutation_p.R376H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	376					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R376H(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TTCTAGGATGCGCAGGGTGTA	0.662																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											79.0	68.0	72.0					19																	42558011		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1127G>A	19.37:g.42558011C>T	ENSP00000262895:p.Arg376His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWG8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R376H	ENST00000262895.3	37	c.1127	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658932	0.67586	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.20463	2.07;2.07	5.44	5.44	0.79542	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	N	0.02916	-0.46	0.39684	D	0.970941	B	0.24675	0.109	B	0.15870	0.014	T	0.17653	-1.0362	10	0.72032	D	0.01	.	18.0289	0.89277	0.0:1.0:0.0:0.0	.	376	Q16478	GRIK5_HUMAN	H	376	ENSP00000262895:R376H;ENSP00000301218:R376H	ENSP00000262895:R376H	R	-	2	0	GRIK5	47249851	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	2.407000	0.44565	2.546000	0.85860	0.655000	0.94253	CGC	GRIK5	-	pfam_ANF_lig-bd_rcpt	ENSG00000105737		0.662	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	157	0.00	0	C			42558011	42558011	-1	no_errors	ENST00000301218	ensembl	human	known	69_37n	missense	90	13.46	14	SNP	1.000	T
GRIN2C	2905	genome.wustl.edu	37	17	72848644	72848644	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr17:72848644G>C	ENST00000293190.5	-	3	652	c.506C>G	c.(505-507)aCc>aGc	p.T169S	GRIN2C_ENST00000578159.1_5'UTR|GRIN2C_ENST00000347612.4_Missense_Mutation_p.T169S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	169					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTGCAGGCTGGTGATGACGGC	0.692																																						dbGAP											0													14.0	17.0	16.0					17																	72848644		2177	4277	6454	-	-	-	SO:0001583	missense	0				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.506C>G	17.37:g.72848644G>C	ENSP00000293190:p.Thr169Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T169S	ENST00000293190.5	37	c.506	CCDS32724.1	17	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702087	0.48307	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	D	0.82344	-1.6	4.1	3.12	0.35913	Extracellular ligand-binding receptor (1);	0.183244	0.46145	D	0.000307	D	0.82379	0.5024	L	0.51422	1.61	0.45883	D	0.998732	B;P	0.39352	0.388;0.669	B;P	0.46543	0.305;0.52	T	0.82462	-0.0445	10	0.54805	T	0.06	.	12.199	0.54313	0.0846:0.0:0.9154:0.0	.	203;169	Q8IW23;Q14957	.;NMDE3_HUMAN	S	169;203	ENSP00000293190:T169S	ENSP00000293190:T169S	T	-	2	0	GRIN2C	70360239	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.255000	0.95524	1.072000	0.40860	-0.266000	0.10368	ACC	GRIN2C	-	pfam_ANF_lig-bd_rcpt	ENSG00000161509		0.692	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	10	0.00	0	G			72848644	72848644	-1	no_errors	ENST00000293190	ensembl	human	known	69_37n	missense	0	100.00	10	SNP	1.000	C
HECTD4	283450	genome.wustl.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs	Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.D4198fs	ENST00000430131.2	37	c.12591_12590		12																																																																																			HECTD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000173064		0.629	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		38	0.00	0	-	NM_173813		112600859	112600860	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	frame_shift_ins	13	23.53	4	INS	0.555:1.000	G
HEXDC	284004	genome.wustl.edu	37	17	80400297	80400298	+	3'UTR	INS	-	-	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr17:80400297_80400298insG	ENST00000327949.9	+	0	1509_1510				HEXDC_ENST00000337014.6_Frame_Shift_Ins_p.G530fs|HEXDC_ENST00000577944.1_Frame_Shift_Ins_p.LG502fs			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing						carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGCTGGAGGCTGGGGGGGCTCT	0.693																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.*38->G	17.37:g.80400304_80400304dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	B7UUP6|Q8IYN4|Q8TE81	Frame_Shift_Ins	INS	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.A531fs	ENST00000327949.9	37	c.1587_1588		17																																																																																			HEXDC	-	NULL	ENSG00000169660		0.693	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	15	0.00	0	-	NM_173620		80400297	80400298	+1	no_errors	ENST00000337014	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.001:0.000	G
HEXIM2	124790	genome.wustl.edu	37	17	43246972	43246972	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr17:43246972delG	ENST00000307275.3	+	4	1093	c.657delG	c.(655-657)gagfs	p.E219fs	HEXIM2_ENST00000592695.1_Frame_Shift_Del_p.E219fs|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000591576.1_Frame_Shift_Del_p.E219fs|RP13-890H12.2_ENST00000589796.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	219					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						ACTACCTGGAGCTGGAGAAGC	0.652																																						dbGAP											0													11.0	8.0	9.0					17																	43246972		2087	4075	6162	-	-	-	SO:0001589	frameshift_variant	0			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.657delG	17.37:g.43246972delG	ENSP00000302276:p.Glu219fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX66	Frame_Shift_Del	DEL	NULL	p.E219fs	ENST00000307275.3	37	c.657	CCDS11496.1	17																																																																																			HEXIM2	-	NULL	ENSG00000168517		0.652	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM2	HGNC	protein_coding	OTTHUMT00000450181.1	9	0.00	0	G	NM_144608		43246972	43246972	+1	no_errors	ENST00000307275	ensembl	human	known	69_37n	frame_shift_del	7	63.16	12	DEL	0.998	-
HFE2	148738	genome.wustl.edu	37	1	145415808	145415808	+	Silent	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr1:145415808G>A	ENST00000336751.5	+	3	865	c.627G>A	c.(625-627)gcG>gcA	p.A209A	HFE2_ENST00000357836.5_Silent_p.A96A|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	209					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCCATGGCGTTGGGGGCCA	0.577																																						dbGAP											0													94.0	99.0	97.0					1																	145415808		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.627G>A	1.37:g.145415808G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Silent	SNP	pfam_RGM_N,pfam_RGM_C	p.A209	ENST00000336751.5	37	c.627	CCDS910.1	1																																																																																			HFE2	-	pfam_RGM_N	ENSG00000168509		0.577	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HFE2	HGNC	protein_coding	OTTHUMT00000038527.1	71	0.00	0	G	NM_145277		145415808	145415808	+1	no_errors	ENST00000336751	ensembl	human	known	69_37n	silent	37	22.92	11	SNP	0.002	A
IRS4	8471	genome.wustl.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						dbGAP											0										32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				-	-	-	SO:0001589	frameshift_variant	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.K592fs	ENST00000372129.2	37	c.1773_1772	CCDS14544.1	X																																																																																			IRS4	-	NULL	ENSG00000133124		0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	269	0.00	0	-	NM_003604		107977802	107977803	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	frame_shift_ins	117	13.33	18	INS	0.031:0.016	C
JPH4	84502	genome.wustl.edu	37	14	24040435	24040436	+	Frame_Shift_Ins	INS	-	-	C	rs144738828		TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr14:24040435_24040436insC	ENST00000397118.3	-	6	2406_2407	c.1504_1505insG	c.(1504-1506)gcafs	p.A502fs	JPH4_ENST00000544177.1_Frame_Shift_Ins_p.A167fs|JPH4_ENST00000356300.4_Frame_Shift_Ins_p.A502fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	502					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.A502fs*12(2)|p.A502fs*8(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGTGCGCCTGCCCCCCCCCAC	0.688																																						dbGAP											3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1505dupG	14.37:g.24040444_24040444dupC	ENSP00000380307:p.Ala502fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS53|Q8ND44|Q96DQ0	Frame_Shift_Ins	INS	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.A502fs	ENST00000397118.3	37	c.1505_1504	CCDS9603.1	14																																																																																			JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.688	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	21	0.00	0	-	NM_032452		24040435	24040436	-1	no_errors	ENST00000356300	ensembl	human	known	69_37n	frame_shift_ins	101	12.93	15	INS	0.051:0.057	C
KAT8	84148	genome.wustl.edu	37	16	31131549	31131549	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr16:31131549G>A	ENST00000543774.2	+	3	589	c.254G>A	c.(253-255)gGc>gAc	p.G85D	RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000448516.2_Missense_Mutation_p.G85D|KAT8_ENST00000219797.4_Missense_Mutation_p.G85D			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	85	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										GACCAGGAGGGCCGAGAGGAA	0.547																																						dbGAP											0													154.0	139.0	144.0					16																	31131549		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.254G>A	16.37:g.31131549G>A	ENSP00000456933:p.Gly85Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.G85D	ENST00000543774.2	37	c.254	CCDS10706.1	16	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284428	0.59867	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.54479	0.57;0.57	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	L	0.32530	0.975	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.15870	0.014;0.003	T	0.23691	-1.0181	10	0.44086	T	0.13	-27.5152	15.091	0.72195	0.0:0.1423:0.8577:0.0	.	85;85	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	D	85	ENSP00000219797:G85D;ENSP00000406037:G85D	ENSP00000219797:G85D	G	+	2	0	KAT8	31039050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.610000	0.54125	2.769000	0.95229	0.655000	0.94253	GGC	KAT8	-	pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	ENSG00000103510		0.547	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KAT8	HGNC	protein_coding	OTTHUMT00000255546.3	219	0.00	0	G	NM_032188		31131549	31131549	+1	no_errors	ENST00000448516	ensembl	human	known	69_37n	missense	127	11.81	17	SNP	1.000	A
KCNB1	3745	genome.wustl.edu	37	20	47990079	47990079	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr20:47990079T>C	ENST00000371741.4	-	2	2184	c.2018A>G	c.(2017-2019)aAa>aGa	p.K673R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	673					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GAAGTTGACTTTAAGTGCTCG	0.562																																						dbGAP											0													52.0	52.0	52.0					20																	47990079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2018A>G	20.37:g.47990079T>C	ENSP00000360806:p.Lys673Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14193	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.K673R	ENST00000371741.4	37	c.2018	CCDS13418.1	20	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475118	0.43942	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.37584	1.19	5.7	5.7	0.88788	.	0.854041	0.10782	N	0.634803	T	0.39682	0.1087	L	0.48362	1.52	0.38964	D	0.958615	P	0.36010	0.532	B	0.38954	0.286	T	0.19679	-1.0298	10	0.36615	T	0.2	.	15.6259	0.76855	0.0:0.0:0.0:1.0	.	673	Q14721	KCNB1_HUMAN	R	673;628	ENSP00000360806:K673R	ENSP00000360806:K673R	K	-	2	0	KCNB1	47423486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.173000	0.68751	0.533000	0.62120	AAA	KCNB1	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000158445		0.562	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	58	0.00	0	T	NM_004975		47990079	47990079	-1	no_errors	ENST00000371741	ensembl	human	known	69_37n	missense	59	22.37	17	SNP	1.000	C
KCND1	3750	genome.wustl.edu	37	X	48826431	48826431	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chrX:48826431A>C	ENST00000218176.3	-	1	1545	c.248T>G	c.(247-249)tTc>tGc	p.F83C	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	83					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GCGATCGAAGAAGTACTCGCC	0.572																																						dbGAP											0													55.0	39.0	44.0					X																	48826431		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.248T>G	X.37:g.48826431A>C	ENSP00000218176:p.Phe83Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.F83C	ENST00000218176.3	37	c.248	CCDS14314.1	X	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815005	0.50527	.	.	ENSG00000102057	ENST00000218176	D	0.84800	-1.9	4.8	3.6	0.41247	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.93481	0.7920	H	0.96111	3.77	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	D	0.93850	0.7144	10	0.87932	D	0	.	9.0074	0.36120	0.9064:0.0:0.0936:0.0	.	83	Q9NSA2	KCND1_HUMAN	C	83	ENSP00000218176:F83C	ENSP00000218176:F83C	F	-	2	0	KCND1	48711375	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	9.087000	0.94110	1.780000	0.52325	0.417000	0.27973	TTC	KCND1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	ENSG00000102057		0.572	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND1	HGNC	protein_coding	OTTHUMT00000060774.1	42	0.00	0	A	NM_004979		48826431	48826431	-1	no_errors	ENST00000218176	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	1.000	C
KDM3B	51780	genome.wustl.edu	37	5	137721990	137721990	+	Missense_Mutation	SNP	A	A	T	rs200556196		TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr5:137721990A>T	ENST00000314358.5	+	7	1260	c.1060A>T	c.(1060-1062)Att>Ttt	p.I354F	KDM3B_ENST00000394866.1_Missense_Mutation_p.I10F|KDM3B_ENST00000542866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	354					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAACCGCAACATTCGCTTTGC	0.552																																						dbGAP											0													206.0	213.0	210.0					5																	137721990		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1060A>T	5.37:g.137721990A>T	ENSP00000326563:p.Ile354Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.I354F	ENST00000314358.5	37	c.1060	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	A	15.25	2.777726	0.49786	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.74737	-0.03;-0.87	5.6	5.6	0.85130	.	0.123295	0.52532	D	0.000062	T	0.73830	0.3637	L	0.27053	0.805	0.80722	D	1	D;D	0.64830	0.994;0.989	P;P	0.53912	0.737;0.648	T	0.77362	-0.2616	10	0.62326	D	0.03	-9.8711	15.758	0.78051	1.0:0.0:0.0:0.0	.	10;354	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	F	354;144;10	ENSP00000326563:I354F;ENSP00000378335:I10F	ENSP00000326563:I354F	I	+	1	0	KDM3B	137749889	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.915000	0.63355	2.115000	0.64714	0.460000	0.39030	ATT	KDM3B	-	NULL	ENSG00000120733		0.552	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	222	0.00	0	A	NM_016604		137721990	137721990	+1	no_errors	ENST00000314358	ensembl	human	known	69_37n	missense	203	13.62	32	SNP	1.000	T
ZSWIM8	23053	genome.wustl.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						dbGAP											0									,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				-	-	-	SO:0001589	frameshift_variant	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	pfscan_Znf_SWIM	p.Y1701fs	ENST00000605216.1	37	c.5092_5093		10																																																																																			KIAA0913	-	NULL	ENSG00000214655		0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	345	0.00	0	-	NM_001242487		75560463	75560464	+1	no_errors	ENST00000398706	ensembl	human	known	69_37n	frame_shift_ins	143	10.06	16	INS	1.000:1.000	C
TLDC1	57707	genome.wustl.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C	rs549073767		TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)gggcagfs	p.Q364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.Q337fs	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	364	TLD.					lysosomal membrane (GO:0005765)											TAATTGTGCTGCCCCCCCATAC	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1090dupG	16.37:g.84514309_84514309dupC	ENSP00000343635:p.Gln364fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZ64|Q9HCG3|Q9NTE8	Frame_Shift_Ins	INS	pfam_TLDc,smart_TLDc	p.Q363fs	ENST00000343629.6	37	c.1090_1089	CCDS32498.1	16																																																																																			KIAA1609	-	pfam_TLDc,smart_TLDc	ENSG00000140950		0.550	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	KIAA1609	HGNC	protein_coding	OTTHUMT00000433421.1	74	0.00	0	-	NM_020947		84514302	84514303	-1	no_errors	ENST00000343629	ensembl	human	known	69_37n	frame_shift_ins	36	12.20	5	INS	1.000:0.148	C
KIR3DL1	3811	genome.wustl.edu	37	19	55325455	55325455	+	Intron	SNP	G	G	A	rs1051457	byFrequency	TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr19:55325455G>A	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000346587.4_Silent_p.L211L|KIR2DL4_ENST00000396293.1_Silent_p.L194L|KIR2DL4_ENST00000359085.4_3'UTR|KIR3DL1_ENST00000326542.7_5'Flank|KIR2DL4_ENST00000357494.4_Silent_p.L289L|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000345540.5_Silent_p.L306L|KIR3DL1_ENST00000358178.4_5'Flank|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000396284.2_Silent_p.L361L|KIR3DL1_ENST00000391728.4_5'Flank			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGAGCGTTGTCTCCTGCCC	0.522													g|||	1141	0.227835	0.0197	0.3199	5008	,	,		10104	0.4712		0.1839	False		,,,				2504	0.2382					dbGAP											0													5.0	6.0	6.0					19																	55325455		1012	3024	4036	-	-	-	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-3534G>A	19.37:g.55325455G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.L361	ENST00000538269.1	37	c.1083		19																																																																																			KIR2DL4	-	NULL	ENSG00000189013		0.522	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL4	HGNC	protein_coding		21	0.00	0	G	NM_013289		55325455	55325455	+1	no_errors	ENST00000396284	ensembl	human	known	69_37n	silent	40	35.48	22	SNP	0.001	A
KPRP	448834	genome.wustl.edu	37	1	152733639	152733639	+	Silent	SNP	C	C	G	rs373854606		TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr1:152733639C>G	ENST00000606109.1	+	1	1603	c.1575C>G	c.(1573-1575)acC>acG	p.T525T	KPRP_ENST00000368773.1_Silent_p.T525T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	525						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTAGACACCGAAGCTCCCT	0.607																																						dbGAP											0													73.0	69.0	70.0					1																	152733639		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1575C>G	1.37:g.152733639C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.T525	ENST00000606109.1	37	c.1575	CCDS30862.1	1																																																																																			KPRP	-	NULL	ENSG00000203786		0.607	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	HGNC	protein_coding	OTTHUMT00000034522.2	101	0.00	0	C	NM_001025231		152733639	152733639	+1	no_errors	ENST00000368773	ensembl	human	known	69_37n	silent	66	42.11	48	SNP	0.015	G
LRP1	4035	genome.wustl.edu	37	12	57603939	57603940	+	Frame_Shift_Ins	INS	-	-	C	rs374957759|rs368578321		TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr12:57603939_57603940insC	ENST00000243077.3	+	81	13033_13034	c.12567_12568insC	c.(12568-12570)cccfs	p.P4190fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4190					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTCCAACGCCCCCCCCAGA	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12575dupC	12.37:g.57603947_57603947dupC	ENSP00000243077:p.Pro4190fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D4192fs	ENST00000243077.3	37	c.12567_12568	CCDS8932.1	12																																																																																			LRP1	-	superfamily_Growth_fac_rcpt	ENSG00000123384		0.639	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	61	0.00	0	-	NM_002332		57603939	57603940	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	frame_shift_ins	36	12.20	5	INS	0.037:0.113	C
LRP1B	53353	genome.wustl.edu	37	2	141762944	141762944	+	Silent	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr2:141762944G>A	ENST00000389484.3	-	15	3434	c.2463C>T	c.(2461-2463)gcC>gcT	p.A821A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	821	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTGATTATCGGCACAAGCAC	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													78.0	75.0	76.0					2																	141762944		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2463C>T	2.37:g.141762944G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A821	ENST00000389484.3	37	c.2463	CCDS2182.1	2																																																																																			LRP1B	-	smart_EGF-like	ENSG00000168702		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	143	0.00	0	G	NM_018557		141762944	141762944	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	silent	112	13.74	18	SNP	0.814	A
LRRC41	10489	genome.wustl.edu	37	1	46744688	46744688	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr1:46744688G>T	ENST00000343304.6	-	10	2573	c.2288C>A	c.(2287-2289)gCc>gAc	p.A763D	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	763					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTGACCAAAGGCTCCACGGCC	0.602																																						dbGAP											0													39.0	44.0	42.0					1																	46744688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2288C>A	1.37:g.46744688G>T	ENSP00000343298:p.Ala763Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.A763D	ENST00000343304.6	37	c.2288	CCDS533.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.567549|1.567549	0.28003|0.28003	.|.	.|.	ENSG00000132128|ENSG00000132128	ENST00000343304|ENST00000371972	T|.	0.53857|.	0.6|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.381500|.	0.24492|.	N|.	0.038047|.	T|T	0.36524|0.36524	0.0970|0.0970	N|N	0.08118|0.08118	0|0	0.32640|0.32640	N|N	0.520884|0.520884	P|.	0.36874|.	0.572|.	B|.	0.29716|.	0.106|.	T|T	0.53767|0.53767	-0.8392|-0.8392	10|6	0.27785|0.87932	T|D	0.31|0	-8.8675|-8.8675	12.9607|12.9607	0.58455|0.58455	0.0:0.0:0.8389:0.1611|0.0:0.0:0.8389:0.1611	.|.	763|.	Q15345|.	LRC41_HUMAN|.	D|T	763|593	ENSP00000343298:A763D|.	ENSP00000343298:A763D|ENSP00000361040:P593T	A|P	-|-	2|1	0|0	LRRC41|LRRC41	46517275|46517275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.682000|1.682000	0.37628|0.37628	2.505000|2.505000	0.84491|0.84491	0.484000|0.484000	0.47621|0.47621	GCC|CCT	LRRC41	-	NULL	ENSG00000132128		0.602	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	49	0.00	0	G	NM_006369		46744688	46744688	-1	no_errors	ENST00000343304	ensembl	human	known	69_37n	missense	56	13.85	9	SNP	1.000	T
MAP3K13	9175	genome.wustl.edu	37	3	185146578	185146578	+	Missense_Mutation	SNP	C	C	T	rs548832664	byFrequency	TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr3:185146578C>T	ENST00000265026.3	+	2	543	c.209C>T	c.(208-210)aCg>aTg	p.T70M	MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.T70M	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACAGTGTTGACGAGCGTAAGT	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		22610	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													91.0	68.0	76.0					3																	185146578		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.209C>T	3.37:g.185146578C>T	ENSP00000265026:p.Thr70Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T70M	ENST00000265026.3	37	c.209	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895469	0.52121	.	.	ENSG00000073803	ENST00000447637;ENST00000424227;ENST00000428617;ENST00000265026	T;T;T;T	0.79033	0.08;-1.23;0.57;-1.23	5.61	4.74	0.60224	.	0.159071	0.43260	D	0.000597	T	0.58595	0.2133	N	0.08118	0	0.80722	D	1	B	0.31485	0.325	B	0.22386	0.039	T	0.60949	-0.7161	10	0.49607	T	0.09	.	14.4867	0.67622	0.0:0.9295:0.0:0.0705	.	70	O43283	M3K13_HUMAN	M	70	ENSP00000389495:T70M;ENSP00000399910:T70M;ENSP00000405163:T70M;ENSP00000265026:T70M	ENSP00000265026:T70M	T	+	2	0	MAP3K13	186629272	1.000000	0.71417	0.906000	0.35671	0.250000	0.25880	4.675000	0.61619	1.375000	0.46248	0.655000	0.94253	ACG	MAP3K13	-	pirsf_MAP3K12_MAP3K13	ENSG00000073803		0.552	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	165	0.00	0	C	NM_004721		185146578	185146578	+1	no_errors	ENST00000265026	ensembl	human	known	69_37n	missense	86	35.82	48	SNP	0.998	T
KMT2D	8085	genome.wustl.edu	37	12	49427612	49427612	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr12:49427612G>A	ENST00000301067.7	-	39	10875	c.10876C>T	c.(10876-10878)Cgg>Tgg	p.R3626W	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3626	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGAGCAGCCGGGGACTCTGG	0.642																																						dbGAP											0													10.0	12.0	11.0					12																	49427612		2189	4284	6473	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10876C>T	12.37:g.49427612G>A	ENSP00000301067:p.Arg3626Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R3626W	ENST00000301067.7	37	c.10876	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767142	0.31320	.	.	ENSG00000167548	ENST00000301067	D	0.91295	-2.82	5.34	4.4	0.53042	.	0.000000	0.33496	N	0.004859	D	0.90202	0.6937	N	0.14661	0.345	0.35871	D	0.828232	D	0.89917	1.0	D	0.70935	0.971	D	0.93203	0.6593	10	0.87932	D	0	.	15.0025	0.71486	0.0:0.0:0.8576:0.1424	.	3626	O14686	MLL2_HUMAN	W	3626	ENSP00000301067:R3626W	ENSP00000301067:R3626W	R	-	1	2	MLL2	47713879	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.391000	0.73208	2.673000	0.90976	0.563000	0.77884	CGG	MLL2	-	NULL	ENSG00000167548		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	17	0.00	0	G			49427612	49427612	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	A
MRPL24	79590	genome.wustl.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24	p.H18fs	ENST00000361531.2	37	c.53_52	CCDS1155.1	1																																																																																			MRPL24	-	NULL	ENSG00000143314		0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL24	HGNC	protein_coding	OTTHUMT00000098955.1	39	0.00	0	-	NM_145729		156708444	156708445	-1	no_errors	ENST00000361531	ensembl	human	known	69_37n	frame_shift_ins	41	10.87	5	INS	0.438:0.034	G
MTHFD1	4522	genome.wustl.edu	37	14	64879189	64879189	+	Splice_Site	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr14:64879189G>A	ENST00000545908.1	+	4	583		c.e4-1		MTHFD1_ENST00000216605.8_Splice_Site			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase						folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CTGTTTTGCAGATTGGGATCA	0.393																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	dbGAP											0													156.0	140.0	146.0					14																	64879189		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.355-1G>A	14.37:g.64879189G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Splice_Site	SNP	-	e4-1	ENST00000545908.1	37	c.355-1		14	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235172	0.39498	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7508	0.91814	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTHFD1	63948942	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	8.888000	0.92464	2.432000	0.82394	0.561000	0.74099	.	MTHFD1	-	-	ENSG00000100714		0.393	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	MTHFD1	HGNC	protein_coding	OTTHUMT00000412167.1	530	0.00	0	G		Intron	64879189	64879189	+1	no_errors	ENST00000216605	ensembl	human	known	69_37n	splice_site	267	14.65	46	SNP	1.000	A
MYO7A	4647	genome.wustl.edu	37	11	76924905	76924905	+	Splice_Site	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr11:76924905G>A	ENST00000409709.3	+	48	6711	c.6439G>A	c.(6439-6441)Gat>Aat	p.D2147N	MYO7A_ENST00000409619.2_Splice_Site_p.D2098N|MYO7A_ENST00000458637.2_Splice_Site_p.D2107N|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2147	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTCCCCCAGGATATCCTCAC	0.597																																						dbGAP											0													117.0	123.0	121.0					11																	76924905		2100	4204	6304	-	-	-	SO:0001630	splice_region_variant	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6439-1G>A	11.37:g.76924905G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.D2147N	ENST00000409709.3	37	c.6439	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829706	0.91036	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.87	5.87	0.94306	FERM domain (1);Pleckstrin homology-type (1);	0.137974	0.64402	D	0.000005	T	0.77274	0.4106	L	0.56199	1.76	0.80722	D	1	P;B	0.37824	0.609;0.042	B;B	0.44224	0.444;0.097	T	0.73094	-0.4091	9	.	.	.	.	20.2227	0.98327	0.0:0.0:1.0:0.0	.	2107;2147	F8VUN5;Q13402	.;MYO7A_HUMAN	N	2147;2107;2098;1320;2146;2116;2023;1289	ENSP00000386331:D2147N;ENSP00000392185:D2107N;ENSP00000386635:D2098N;ENSP00000417017:D1289N	.	D	+	1	0	MYO7A	76602553	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.476000	0.97823	2.778000	0.95560	0.650000	0.86243	GAT	MYO7A	-	pfscan_FERM_domain	ENSG00000137474		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	169	0.00	0	G	NM_000260	Missense_Mutation	76924905	76924905	+1	no_errors	ENST00000409709	ensembl	human	known	69_37n	missense	57	27.85	22	SNP	1.000	A
NDST3	9348	genome.wustl.edu	37	4	119176789	119176789	+	Silent	SNP	G	G	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr4:119176789G>T	ENST00000296499.5	+	14	2947	c.2544G>T	c.(2542-2544)gtG>gtT	p.V848V		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	848	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATCACAACGTGGAACTCTCAA	0.433																																						dbGAP											0													79.0	72.0	74.0					4																	119176789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2544G>T	4.37:g.119176789G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.V848	ENST00000296499.5	37	c.2544	CCDS3708.1	4																																																																																			NDST3	-	NULL	ENSG00000164100		0.433	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	139	0.00	0	G	NM_004784		119176789	119176789	+1	no_errors	ENST00000296499	ensembl	human	known	69_37n	silent	79	22.55	23	SNP	1.000	T
NKTR	4820	genome.wustl.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1840-1842)cccfs	p.P614fs	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	614					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1847dupC	3.37:g.42679043_42679043dupC	ENSP00000232978:p.Pro614fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	p.S616fs	ENST00000232978.8	37	c.1839_1840	CCDS2702.1	3																																																																																			NKTR	-	NULL	ENSG00000114857		0.421	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	82	0.00	0	-	NM_005385		42679035	42679036	+1	no_errors	ENST00000232978	ensembl	human	known	69_37n	frame_shift_ins	49	10.91	6	INS	0.992:1.000	C
NOBOX	135935	genome.wustl.edu	37	7	144098495	144098496	+	Frame_Shift_Ins	INS	-	-	G	rs558507338|rs372165690	byFrequency	TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr7:144098495_144098496insG	ENST00000467773.1	-	4	486_487	c.487_488insC	c.(487-489)cgcfs	p.R163fs	NOBOX_ENST00000483238.1_Frame_Shift_Ins_p.R163fs|NOBOX_ENST00000223140.5_Frame_Shift_Ins_p.R78fs	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	163					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCCCTGGAGCGGGGGGGCGGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.488dupC	7.37:g.144098502_144098502dupG	ENSP00000419457:p.Arg163fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCD3|A8MZN5	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R163fs	ENST00000467773.1	37	c.488_487		7																																																																																			NOBOX	-	NULL	ENSG00000106410		0.629	NOBOX-002	KNOWN	basic	protein_coding	NOBOX	HGNC	protein_coding	OTTHUMT00000350095.1	47	0.00	0	-	XM_001134420		144098495	144098496	-1	no_errors	ENST00000467773	ensembl	human	known	69_37n	frame_shift_ins	24	20.00	6	INS	0.116:0.001	G
OXCT2	64064	genome.wustl.edu	37	1	40236329	40236330	+	In_Frame_Ins	INS	-	-	CCA			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr1:40236329_40236330insCCA	ENST00000327582.5	-	1	690_691	c.598_599insTGG	c.(598-600)gag>gTGGag	p.199_200insV	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	199					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GATGGCGCGCTCCAAAAGGAAG	0.663											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.596_598dupTGG	1.37:g.40236330_40236332dupCCA	ENSP00000361914:p.Leu199_Glu200insVal	Somatic	891	WXS	Illumina GAIIx	Phase_IV	B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	In_Frame_Ins	INS	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.200in_frame_insV	ENST00000327582.5	37	c.599_598	CCDS445.1	1																																																																																			OXCT2	-	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase	ENSG00000198754		0.663	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT2	HGNC	protein_coding	OTTHUMT00000025656.1	27	0.00	0	-	NM_022120		40236329	40236330	-1	no_errors	ENST00000327582	ensembl	human	known	69_37n	in_frame_ins	14	22.22	4	INS	0.978:0.997	CCA
PAPD7	11044	genome.wustl.edu	37	5	6739853	6739853	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr5:6739853A>G	ENST00000230859.6	+	4	275	c.146A>G	c.(145-147)gAc>gGc	p.D49G		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	279	Ala-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCGACATAGACCTGGTGGTC	0.577																																					NSCLC(7;212 333 5667 23379 46547)	dbGAP											0													79.0	66.0	71.0					5																	6739853		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.146A>G	5.37:g.6739853A>G	ENSP00000230859:p.Asp49Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.D49G	ENST00000230859.6	37	c.146	CCDS3871.1	5	.	.	.	.	.	.	.	.	.	.	A	22.4	4.285172	0.80803	.	.	ENSG00000112941	ENST00000230859	D	0.99912	-7.95	5.1	5.1	0.69264	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	D	0.99937	0.9972	H	0.98594	4.275	0.80722	D	1	D;D	0.56287	0.975;0.975	D;D	0.70487	0.969;0.969	D	0.95666	0.8719	10	0.87932	D	0	-13.354	14.9061	0.70721	1.0:0.0:0.0:0.0	.	49;49	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	G	49	ENSP00000230859:D49G	ENSP00000230859:D49G	D	+	2	0	PAPD7	6792853	1.000000	0.71417	0.992000	0.48379	0.718000	0.41266	8.264000	0.89866	1.916000	0.55485	0.533000	0.62120	GAC	PAPD7	-	pfam_Nucleotidyltransferase	ENSG00000112941		0.577	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD7	HGNC	protein_coding	OTTHUMT00000206904.1	59	0.00	0	A	NM_006999		6739853	6739853	+1	no_errors	ENST00000230859	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	1.000	G
PCDH9	5101	genome.wustl.edu	37	13	67801018	67801018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr13:67801018G>A	ENST00000377865.2	-	1	1689	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	PCDH9_ENST00000456367.1_Nonsense_Mutation_p.R519*|PCDH9_ENST00000377861.3_Nonsense_Mutation_p.R519*|PCDH9_ENST00000544246.1_Nonsense_Mutation_p.R519*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.R519*			Q9HC56	PCDH9_HUMAN	protocadherin 9	519	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCTGTTTTTCGGTCCAGATCA	0.433																																						dbGAP											0													93.0	97.0	96.0					13																	67801018		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1555C>T	13.37:g.67801018G>A	ENSP00000367096:p.Arg519*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R519*	ENST00000377865.2	37	c.1555	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799939	0.90538	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	.	.	.	6.08	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	11.2742	0.49157	0.0618:0.0:0.5966:0.3416	.	.	.	.	X	519	.	ENSP00000332060:R519X	R	-	1	2	PCDH9	66699019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.607000	0.67648	0.420000	0.25954	0.655000	0.94253	CGA	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000184226		0.433	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	177	0.56	1	G	NM_203487		67801018	67801018	-1	no_errors	ENST00000377865	ensembl	human	known	69_37n	nonsense	67	19.28	16	SNP	1.000	A
PCDHB10	56126	genome.wustl.edu	37	5	140573649	140573649	+	Silent	SNP	G	G	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr5:140573649G>T	ENST00000239446.4	+	1	1708	c.1524G>T	c.(1522-1524)gcG>gcT	p.A508A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCAACGCGGACAACGGCC	0.692																																						dbGAP											0													104.0	121.0	115.0					5																	140573649		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1524G>T	5.37:g.140573649G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96T99	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A508	ENST00000239446.4	37	c.1524	CCDS4252.1	5																																																																																			PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120324		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	86	0.00	0	G	NM_018930		140573649	140573649	+1	no_errors	ENST00000239446	ensembl	human	known	69_37n	silent	33	35.85	19	SNP	0.743	T
PIK3CA	5290	genome.wustl.edu	37	3	178937498	178937498	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr3:178937498C>G	ENST00000263967.3	+	12	2043	c.1886C>G	c.(1885-1887)tCt>tGt	p.S629C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	629	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			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)	GACAAACTTTCTCAGTATTTA	0.308		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"""	0													45.0	39.0	41.0					3																	178937498		1799	4062	5861	-	-	-	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.1886C>G	3.37:g.178937498C>G	ENSP00000263967:p.Ser629Cys	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.S629C	ENST00000263967.3	37	c.1886	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497498	0.85069	.	.	ENSG00000121879	ENST00000263967	T	0.63580	-0.05	5.97	5.97	0.96955	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.72371	-0.4314	10	0.38643	T	0.18	0.6519	20.4324	0.99085	0.0:1.0:0.0:0.0	.	629	P42336	PK3CA_HUMAN	C	629	ENSP00000263967:S629C	ENSP00000263967:S629C	S	+	2	0	PIK3CA	180420192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.772000	0.68889	2.833000	0.97629	0.585000	0.79938	TCT	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	119	0.00	0	C			178937498	178937498	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	99	51.71	106	SNP	1.000	G
PNMA2	10687	genome.wustl.edu	37	8	26365956	26365956	+	Silent	SNP	A	A	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr8:26365956A>G	ENST00000522362.2	-	3	1210	c.316T>C	c.(316-318)Ttg>Ctg	p.L106L	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	106					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aacaggttcaatctttcaaga	0.542																																						dbGAP											0													72.0	72.0	72.0					8																	26365956		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.316T>C	8.37:g.26365956A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNY9|O94959|O95145|Q49A18|Q9UL43	Silent	SNP	pfam_Retrotrans_gag	p.L106	ENST00000522362.2	37	c.316	CCDS34868.1	8																																																																																			PNMA2	-	NULL	ENSG00000240694		0.542	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA2	HGNC	protein_coding	OTTHUMT00000375709.2	158	0.00	0	A	NM_007257		26365956	26365956	-1	no_errors	ENST00000522362	ensembl	human	known	69_37n	silent	56	18.84	13	SNP	0.999	G
POLR2B	5431	genome.wustl.edu	37	4	57852532	57852532	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr4:57852532A>T	ENST00000381227.1	+	3	445	c.32A>T	c.(31-33)gAt>gTt	p.D11V	POLR2B_ENST00000314595.5_Missense_Mutation_p.D11V|POLR2B_ENST00000441246.2_Missense_Mutation_p.D4V|POLR2B_ENST00000431623.2_De_novo_Start_OutOfFrame			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	11					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATGCAATATGATGAGGATGAT	0.368																																						dbGAP											0													137.0	134.0	135.0					4																	57852532		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.32A>T	4.37:g.57852532A>T	ENSP00000370625:p.Asp11Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.D11V	ENST00000381227.1	37	c.32	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329644	0.60743	.	.	ENSG00000047315	ENST00000450656;ENST00000381227;ENST00000441246;ENST00000433463;ENST00000314595	T;T;T	0.79033	-1.12;-1.23;-1.12	5.5	5.5	0.81552	.	0.048666	0.85682	D	0.000000	T	0.78679	0.4321	N	0.19112	0.55	0.80722	D	1	D	0.61697	0.99	D	0.67900	0.954	T	0.77302	-0.2638	10	0.27785	T	0.31	.	15.2672	0.73672	1.0:0.0:0.0:0.0	.	11	P30876	RPB2_HUMAN	V	11;11;4;4;11	ENSP00000370625:D11V;ENSP00000391452:D4V;ENSP00000312735:D11V	ENSP00000312735:D11V	D	+	2	0	POLR2B	57547289	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.091000	0.94151	2.082000	0.62665	0.477000	0.44152	GAT	POLR2B	-	NULL	ENSG00000047315		0.368	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	271	0.00	0	A	NM_000938		57852532	57852532	+1	no_errors	ENST00000314595	ensembl	human	known	69_37n	missense	114	16.18	22	SNP	1.000	T
PUS1	80324	genome.wustl.edu	37	12	132426023	132426023	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr12:132426023A>G	ENST00000376649.3	+	5	1231	c.731A>G	c.(730-732)aAc>aGc	p.N244S	PUS1_ENST00000440818.2_Missense_Mutation_p.N216S|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.N216S|PUS1_ENST00000542167.2_Missense_Mutation_p.N191S	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	244					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GGCACGCACAACTTCCACAAT	0.627																																					Esophageal Squamous(102;671 2009 17384 45666)	dbGAP											0													77.0	68.0	71.0					12																	132426023		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.731A>G	12.37:g.132426023A>G	ENSP00000365837:p.Asn244Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	p.N244S	ENST00000376649.3	37	c.731	CCDS9275.2	12	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720211	0.48728	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.37	-2.87	0.05700	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.238087	0.48767	N	0.000172	T	0.58764	0.2145	M	0.73598	2.24	0.52099	D	0.999947	P;P	0.40534	0.627;0.72	B;P	0.50934	0.329;0.654	T	0.61481	-0.7054	10	0.52906	T	0.07	-28.2433	11.2971	0.49284	0.6058:0.0:0.3942:0.0	.	191;244	F5H1S9;Q9Y606	.;TRUA_HUMAN	S	216;244;216;216;191	ENSP00000392451:N216S;ENSP00000365837:N244S;ENSP00000324726:N216S;ENSP00000400032:N216S;ENSP00000438948:N191S	ENSP00000324726:N216S	N	+	2	0	PUS1	130991976	1.000000	0.71417	0.987000	0.45799	0.669000	0.39330	3.208000	0.51114	-0.466000	0.06943	0.459000	0.35465	AAC	PUS1	-	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	ENSG00000177192		0.627	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUS1	HGNC	protein_coding	OTTHUMT00000250313.2	110	0.00	0	A	NM_025215		132426023	132426023	+1	no_errors	ENST00000376649	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	1.000	G
RCN1	5954	genome.wustl.edu	37	11	32125021	32125021	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr11:32125021A>T	ENST00000054950.3	+	5	1176	c.883A>T	c.(883-885)Aac>Tac	p.N295Y	RCN1_ENST00000532942.1_Missense_Mutation_p.N244Y|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	295	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					ATCAGACAAAAACAAGGTATT	0.438																																						dbGAP											0													79.0	82.0	81.0					11																	32125021		2202	4299	6501	-	-	-	SO:0001583	missense	0			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.883A>T	11.37:g.32125021A>T	ENSP00000054950:p.Asn295Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1M1|D3DR00	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.N295Y	ENST00000054950.3	37	c.883	CCDS7876.1	11	.	.	.	.	.	.	.	.	.	.	a	12.63	1.996884	0.35226	.	.	ENSG00000049449	ENST00000532942;ENST00000054950	T;T	0.61274	0.18;0.12	5.9	2.3	0.28687	EF-hand-like domain (1);	0.125201	0.64402	D	0.000001	T	0.65217	0.2670	M	0.83223	2.63	0.51767	D	0.999934	P;B	0.38167	0.621;0.064	P;B	0.47786	0.557;0.091	T	0.64927	-0.6292	10	0.87932	D	0	-48.0793	6.2999	0.21107	0.4565:0.0:0.5435:0.0	.	295;244	Q15293;B7Z1M1	RCN1_HUMAN;.	Y	244;295	ENSP00000436422:N244Y;ENSP00000054950:N295Y	ENSP00000054950:N295Y	N	+	1	0	RCN1	32081597	1.000000	0.71417	0.631000	0.29282	0.501000	0.33797	4.073000	0.57570	0.504000	0.28082	-0.256000	0.11100	AAC	RCN1	-	NULL	ENSG00000049449		0.438	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN1	HGNC	protein_coding	OTTHUMT00000388510.1	121	0.00	0	A	NM_002901		32125021	32125021	+1	no_errors	ENST00000054950	ensembl	human	known	69_37n	missense	108	16.92	22	SNP	0.986	T
RNF20	56254	genome.wustl.edu	37	9	104314674	104314674	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr9:104314674C>T	ENST00000389120.3	+	13	1630	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	514					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GACACGCCTGCGTAGTGGTAG	0.478																																						dbGAP											0													170.0	185.0	180.0					9																	104314674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1540C>T	9.37:g.104314674C>T	ENSP00000373772:p.Arg514Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.R514C	ENST00000389120.3	37	c.1540	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917854	0.52546	.	.	ENSG00000155827	ENST00000389120	T	0.32272	1.46	6.17	5.28	0.74379	.	0.240309	0.44902	D	0.000420	T	0.26846	0.0657	L	0.34521	1.04	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.03193	-1.1062	10	0.66056	D	0.02	-8.3933	14.9824	0.71321	0.0:0.9317:0.0:0.0683	.	514	Q5VTR2	BRE1A_HUMAN	C	514	ENSP00000373772:R514C	ENSP00000373772:R514C	R	+	1	0	RNF20	103354495	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.044000	0.49830	1.620000	0.50308	0.655000	0.94253	CGT	RNF20	-	NULL	ENSG00000155827		0.478	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	155	0.00	0	C	NM_019592		104314674	104314674	+1	no_errors	ENST00000389120	ensembl	human	known	69_37n	missense	131	23.70	41	SNP	0.997	T
RPL13A	23521	genome.wustl.edu	37	19	49993509	49993509	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr19:49993509C>G	ENST00000391857.4	+	3	185	c.109C>G	c.(109-111)Cgc>Ggc	p.R37G	SNORD32A_ENST00000364805.1_RNA|SNORD34_ENST00000365633.1_RNA|RPL13A_ENST00000477613.2_3'UTR|SNORD35A_ENST00000363389.1_RNA|SNORD33_ENST00000362761.1_RNA|CTD-3148I10.15_ENST00000595815.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	37					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GGTGGTCGTACGCTGTGAAGG	0.577																																						dbGAP											0													55.0	52.0	53.0					19																	49993509		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.109C>G	19.37:g.49993509C>G	ENSP00000375730:p.Arg37Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K505	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	p.R37G	ENST00000391857.4	37	c.109	CCDS12768.1	19	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597504	0.46318	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	4.92	3.81	0.43845	Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000003	T	0.58652	0.2137	M	0.71581	2.175	0.58432	D	0.999999	B	0.26809	0.16	B	0.17433	0.018	T	0.64202	-0.6463	9	0.62326	D	0.03	.	11.7027	0.51579	0.1775:0.8225:0.0:0.0	.	37	P40429	RL13A_HUMAN	G	37	.	ENSP00000375730:R37G	R	+	1	0	RPL13A	54685321	1.000000	0.71417	0.986000	0.45419	0.732000	0.41865	2.092000	0.41700	2.273000	0.75805	0.655000	0.94253	CGC	RPL13A	-	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	ENSG00000142541		0.577	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL13A	HGNC	protein_coding	OTTHUMT00000258989.1	67	0.00	0	C			49993509	49993509	+1	no_errors	ENST00000391857	ensembl	human	known	69_37n	missense	69	26.60	25	SNP	0.998	G
SCN4A	6329	genome.wustl.edu	37	17	62034540	62034541	+	In_Frame_Ins	INS	-	-	TTG			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr17:62034540_62034541insTTG	ENST00000435607.1	-	13	2433_2434	c.2357_2358insCAA	c.(2356-2358)atg>atCAAg	p.786_786M>IK	SCN4A_ENST00000578147.1_In_Frame_Ins_p.786_786M>IK	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	786					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCCGATGACCATGACCATGAG	0.574																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2357_2358insCAA	17.37:g.62034540_62034541insTTG	ENSP00000396320:p.Met786delinsIleLys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15478|Q16447|Q7Z6B1	In_Frame_Ins	INS	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.M786in_frame_insIK	ENST00000435607.1	37	c.2358_2357	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom	ENSG00000007314		0.574	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		98	0.00	0	-	NM_000334		62034540	62034541	-1	no_errors	ENST00000435607	ensembl	human	known	69_37n	in_frame_ins	42	10.64	5	INS	1.000:1.000	TTG
SETDB1	9869	genome.wustl.edu	37	1	150935080	150935080	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr1:150935080G>A	ENST00000271640.5	+	18	3366	c.3176G>A	c.(3175-3177)cGa>cAa	p.R1059Q	RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000345896.4_5'Flank|SETDB1_ENST00000368969.4_Missense_Mutation_p.R1059Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1059	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAAGCTCTCGAAATTACGGT	0.473																																						dbGAP											0													118.0	112.0	114.0					1																	150935080		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3176G>A	1.37:g.150935080G>A	ENSP00000271640:p.Arg1059Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R1059Q	ENST00000271640.5	37	c.3176	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639087	0.47153	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.87571	-2.27;-2.27;1.21	5.17	4.24	0.50183	SET domain (3);	0.654660	0.14443	N	0.319295	T	0.63498	0.2516	L	0.29908	0.895	0.80722	D	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.12837	0.008;0.002;0.003	T	0.56105	-0.8034	10	0.10111	T	0.7	.	8.9512	0.35790	0.1797:0.0:0.8203:0.0	.	1059;1059;1059	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	Q	1059	ENSP00000271640:R1059Q;ENSP00000357965:R1059Q;ENSP00000432348:R1059Q	ENSP00000271640:R1059Q	R	+	2	0	SETDB1	149201704	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.374000	0.44274	1.392000	0.46585	0.561000	0.74099	CGA	SETDB1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000143379		0.473	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	171	0.00	0	G			150935080	150935080	+1	no_errors	ENST00000271640	ensembl	human	known	69_37n	missense	481	15.38	88	SNP	0.961	A
SIGLEC5	8778	genome.wustl.edu	37	19	52133292	52133292	+	Missense_Mutation	SNP	A	A	G	rs1973019	byFrequency	TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr19:52133292A>G	ENST00000534261.2	-	3	614	c.215T>C	c.(214-216)gTt>gCt	p.V72A	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.V72A|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.V72A			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	72	Ig-like V-type.		V -> A (in dbSNP:rs1973019).		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGTGGCCACAACCTCAGCGTA	0.577													G|||	482	0.096246	0.0121	0.1974	5008	,	,		15121	0.002		0.1988	False		,,,				2504	0.1299					dbGAP											0													6.0	6.0	6.0					19																	52133292		1790	3344	5134	-	-	-	SO:0001583	missense	0			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.215T>C	19.37:g.52133292A>G	ENSP00000473238:p.Val72Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V72A	ENST00000534261.2	37	c.215	CCDS33088.1	19	.	.	.	.	.	.	.	.	.	.	a	5.405	0.259892	0.10239	.	.	ENSG00000105501	ENST00000429354	T	0.68025	-0.3	4.24	-4.0	0.04057	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.544624	0.15369	N	0.265939	T	0.46870	0.1415	N	0.25485	0.75	0.80722	P	0.0	B	0.06786	0.001	B	0.12156	0.007	T	0.27640	-1.0068	9	0.30854	T	0.27	.	10.8806	0.46935	0.6567:0.0:0.3433:0.0	.	72	O15389	SIGL5_HUMAN	A	72	ENSP00000415200:V72A	ENSP00000415200:V72A	V	-	2	0	SIGLEC5	56825104	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.459000	0.06728	-0.793000	0.04475	-0.880000	0.02959	GTT	SIGLEC5	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000105501		0.577	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	25	0.00	0	A	NM_003830		52133292	52133292	-1	no_errors	ENST00000429354	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.000	G
SPATA20	64847	genome.wustl.edu	37	17	48626803	48626805	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr17:48626803_48626805delGAG	ENST00000356488.4	+	6	852_854	c.769_771delGAG	c.(769-771)gagdel	p.E258del	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_In_Frame_Del_p.E274del|SPATA20_ENST00000393244.3_In_Frame_Del_p.E214del	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	258					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGGCTATGATGAGGAATACGGTG	0.635																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.769_771delGAG	17.37:g.48626803_48626805delGAG	ENSP00000348878:p.Glu258del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	In_Frame_Del	DEL	pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold	p.E274in_frame_del	ENST00000356488.4	37	c.817_819	CCDS58563.1	17																																																																																			SPATA20	-	superfamily_6-hairpin_glycosidase-like	ENSG00000006282		0.635	SPATA20-004	KNOWN	basic|CCDS	protein_coding	SPATA20	HGNC	protein_coding	OTTHUMT00000367651.1	9	0.00	0	GAG	NM_022827		48626803	48626805	+1	no_errors	ENST00000006658	ensembl	human	known	69_37n	in_frame_del	18	37.93	11	DEL	1.000:1.000:1.000	-
SUSD5	26032	genome.wustl.edu	37	3	33249409	33249409	+	Silent	SNP	C	C	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr3:33249409C>T	ENST00000309558.3	-	3	717	c.300G>A	c.(298-300)gtG>gtA	p.V100V		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	100	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTTTGCTACACACAGTTGTTC	0.423																																						dbGAP											0													140.0	130.0	133.0					3																	33249409		1894	4125	6019	-	-	-	SO:0001819	synonymous_variant	0			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.300G>A	3.37:g.33249409C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	p.C99Y	ENST00000309558.3	37	c.296	CCDS46787.1	3	.	.	.	.	.	.	.	.	.	.	C	7.903	0.734918	0.15574	.	.	ENSG00000173705	ENST00000412539	.	.	.	5.46	3.67	0.42095	.	.	.	.	.	T	0.59280	0.2182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54682	-0.8257	4	.	.	.	-11.6733	9.5306	0.39191	0.0:0.8341:0.0:0.1659	.	.	.	.	Y	99	.	.	C	-	2	0	SUSD5	33224413	1.000000	0.71417	0.910000	0.35882	0.775000	0.43874	0.938000	0.28965	0.790000	0.33803	0.655000	0.94253	TGT	SUSD5	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000173705		0.423	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	HGNC	protein_coding	OTTHUMT00000341902.1	326	0.00	0	C	XM_171054		33249409	33249409	-1	pseudogene:no_stop_codon	ENST00000412539	ensembl	human	novel	69_37n	missense	285	39.75	188	SNP	0.998	T
TEX15	56154	genome.wustl.edu	37	8	30695197	30695197	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr8:30695197delG	ENST00000256246.2	-	3	7528	c.7454delC	c.(7453-7455)ccafs	p.P2485fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2485					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGTGGGATCTGGGGAATTTTT	0.408																																						dbGAP											0													78.0	83.0	81.0					8																	30695197		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7454delC	8.37:g.30695197delG	ENSP00000256246:p.Pro2485fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.P2485fs	ENST00000256246.2	37	c.7454	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.408	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	59	0.00	0	G			30695197	30695197	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	frame_shift_del	25	37.50	15	DEL	0.002	-
TFE3	7030	genome.wustl.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	dbGAP		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P483fs	ENST00000315869.7	37	c.1446_1445	CCDS14315.3	X																																																																																			TFE3	-	pfam_bHLH_ZIP_TF_MiT/TFE	ENSG00000068323		0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	93	0.00	0	-	NM_006521		48887951	48887952	-1	no_errors	ENST00000315869	ensembl	human	known	69_37n	frame_shift_ins	189	11.68	25	INS	0.035:0.037	C
TMEM132B	114795	genome.wustl.edu	37	12	125834766	125834766	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr12:125834766C>A	ENST00000299308.3	+	2	829	c.821C>A	c.(820-822)tCc>tAc	p.S274Y		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	274						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTGAAGTGGTCCCTGGTGAGC	0.562																																						dbGAP											0													176.0	172.0	174.0					12																	125834766		1994	4158	6152	-	-	-	SO:0001583	missense	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.821C>A	12.37:g.125834766C>A	ENSP00000299308:p.Ser274Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.S274Y	ENST00000299308.3	37	c.821	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306752	0.81247	.	.	ENSG00000139364	ENST00000299308	T	0.13089	2.62	5.34	5.34	0.76211	.	.	.	.	.	T	0.26774	0.0655	L	0.43923	1.385	0.80722	D	1	P	0.48589	0.912	P	0.54759	0.76	T	0.00428	-1.1745	9	0.62326	D	0.03	.	19.0586	0.93078	0.0:1.0:0.0:0.0	.	274	Q14DG7	T132B_HUMAN	Y	274	ENSP00000299308:S274Y	ENSP00000299308:S274Y	S	+	2	0	TMEM132B	124400719	0.686000	0.27661	0.899000	0.35326	0.991000	0.79684	1.271000	0.33098	2.488000	0.83962	0.655000	0.94253	TCC	TMEM132B	-	NULL	ENSG00000139364		0.562	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	153	0.00	0	C	NM_052907		125834766	125834766	+1	no_errors	ENST00000299308	ensembl	human	known	69_37n	missense	144	20.00	36	SNP	0.993	A
TMEM175	84286	genome.wustl.edu	37	4	947133	947133	+	Silent	SNP	T	T	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr4:947133T>C	ENST00000264771.4	+	8	803	c.618T>C	c.(616-618)ttT>ttC	p.F206F	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Silent_p.F90F|TMEM175_ENST00000508204.1_Silent_p.F124F	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	206						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTCTCTTCTTTGTCCCCTTGG	0.652																																						dbGAP											0													113.0	99.0	104.0					4																	947133		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.618T>C	4.37:g.947133T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVN4|Q8ND13	Silent	SNP	pfam_DUF1211_TMEM175	p.F206	ENST00000264771.4	37	c.618	CCDS3341.1	4																																																																																			TMEM175	-	NULL	ENSG00000127419		0.652	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	HGNC	protein_coding	OTTHUMT00000239193.2	178	0.00	0	T	NM_032326		947133	947133	+1	no_errors	ENST00000264771	ensembl	human	known	69_37n	silent	42	37.31	25	SNP	1.000	C
TNPO3	23534	genome.wustl.edu	37	7	128610253	128610253	+	Silent	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr7:128610253G>A	ENST00000265388.5	-	20	2690	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	TNPO3_ENST00000393245.1_Silent_p.T883T|TNPO3_ENST00000471234.1_Silent_p.T785T|TNPO3_ENST00000482320.1_Silent_p.T783T|TNPO3_ENST00000471166.1_Silent_p.T883T|RN7SL306P_ENST00000492941.2_RNA			Q9Y5L0	TNPO3_HUMAN	transportin 3	849					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CATCTGGTAGGGTATAGGGGG	0.478																																					Pancreas(147;583 2585 39696 52331)	dbGAP											0													145.0	146.0	146.0					7																	128610253		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2547C>T	7.37:g.128610253G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.T883	ENST00000265388.5	37	c.2649	CCDS5809.1	7																																																																																			TNPO3	-	NULL	ENSG00000064419		0.478	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	114	0.00	0	G	NM_012470		128610253	128610253	-1	no_errors	ENST00000393245	ensembl	human	known	69_37n	silent	48	48.39	45	SNP	0.991	A
TRAPPC10	7109	genome.wustl.edu	37	21	45502669	45502669	+	Splice_Site	SNP	G	G	A			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr21:45502669G>A	ENST00000291574.4	+	14	1899	c.1724G>A	c.(1723-1725)gGt>gAt	p.G575D		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	575					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTATTTACAGGTCATAAGATA	0.507																																						dbGAP											0													146.0	131.0	136.0					21																	45502669		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1724-1G>A	21.37:g.45502669G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	NULL	p.G575D	ENST00000291574.4	37	c.1724	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	G	9.907	1.208335	0.22205	.	.	ENSG00000160218	ENST00000291574	T	0.44482	0.92	5.58	5.58	0.84498	.	0.171017	0.56097	D	0.000038	T	0.23133	0.0559	N	0.08118	0	0.54753	D	0.999981	P	0.36222	0.544	B	0.30251	0.113	T	0.09487	-1.0672	9	.	.	.	.	17.3569	0.87338	0.0:0.0:1.0:0.0	.	575	P48553	TPC10_HUMAN	D	575	ENSP00000291574:G575D	.	G	+	2	0	TRAPPC10	44327097	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	3.836000	0.55813	2.622000	0.88805	0.655000	0.94253	GGT	TRAPPC10	-	NULL	ENSG00000160218		0.507	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	151	0.00	0	G	NM_003274	Missense_Mutation	45502669	45502669	+1	no_errors	ENST00000291574	ensembl	human	known	69_37n	missense	63	24.10	20	SNP	1.000	A
UGGT2	55757	genome.wustl.edu	37	13	96665616	96665616	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr13:96665616delA	ENST00000376747.3	-	5	675	c.605delT	c.(604-606)ttgfs	p.L202fs	UGGT2_ENST00000376712.4_Frame_Shift_Del_p.L202fs|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_Frame_Shift_Del_p.L202fs|UGGT2_ENST00000397618.3_Frame_Shift_Del_p.L202fs	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	202					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTTTCAGACAATACTTTGTG	0.358																																						dbGAP											0													105.0	99.0	101.0					13																	96665616		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.605delT	13.37:g.96665616delA	ENSP00000365938:p.Leu202fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Frame_Shift_Del	DEL	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.L202fs	ENST00000376747.3	37	c.605	CCDS9480.1	13																																																																																			UGGT2	-	NULL	ENSG00000102595		0.358	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	262	0.00	0	A	NM_020121		96665616	96665616	-1	no_errors	ENST00000376747	ensembl	human	known	69_37n	frame_shift_del	183	20.94	49	DEL	1.000	-
UPF2	26019	genome.wustl.edu	37	10	11978707	11978707	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr10:11978707C>T	ENST00000356352.2	-	18	3856	c.3383G>A	c.(3382-3384)cGa>cAa	p.R1128Q	UPF2_ENST00000397053.2_Missense_Mutation_p.R1128Q|UPF2_ENST00000357604.5_Missense_Mutation_p.R1128Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1128	Interaction with UPF1.|Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTCACCACTTCGTTGCTAAAA	0.388																																						dbGAP											0													52.0	54.0	53.0					10																	11978707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3383G>A	10.37:g.11978707C>T	ENSP00000348708:p.Arg1128Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.R1128Q	ENST00000356352.2	37	c.3383	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876430	0.72180	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053;ENST00000359268	T;T;T	0.55234	0.53;0.53;0.53	5.96	5.05	0.67936	Up-frameshift suppressor 2 (1);	0.077955	0.53938	D	0.000053	T	0.53642	0.1809	M	0.79926	2.475	0.49915	D	0.999837	P	0.36874	0.572	B	0.28991	0.097	T	0.61093	-0.7132	10	0.59425	D	0.04	.	15.0852	0.72145	0.0:0.9319:0.0:0.0681	.	1128	Q9HAU5	RENT2_HUMAN	Q	1128;1128;1128;33	ENSP00000348708:R1128Q;ENSP00000350221:R1128Q;ENSP00000380244:R1128Q	ENSP00000348708:R1128Q	R	-	2	0	UPF2	12018713	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.234000	0.78134	1.521000	0.48983	0.650000	0.86243	CGA	UPF2	-	pfam_Up-fram_suppressor-2	ENSG00000151461		0.388	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	119	0.00	0	C			11978707	11978707	-1	no_errors	ENST00000356352	ensembl	human	known	69_37n	missense	242	14.79	42	SNP	1.000	T
UROC1	131669	genome.wustl.edu	37	3	126202222	126202223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr3:126202222_126202223insC	ENST00000290868.2	-	19	1932_1933	c.1879_1880insG	c.(1879-1881)gtcfs	p.V627fs	UROC1_ENST00000383579.3_Frame_Shift_Ins_p.V687fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	627					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACCATTGGAGACATCCCAGCTG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1880dupG	3.37:g.126202223_126202223dupC	ENSP00000290868:p.Val627fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE13|Q14C64|Q68CJ7	Frame_Shift_Ins	INS	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.V627fs	ENST00000290868.2	37	c.1880_1879	CCDS3038.1	3																																																																																			UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	ENSG00000159650		0.619	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	37	0.00	0	-	NM_144639		126202222	126202223	-1	no_errors	ENST00000290868	ensembl	human	known	69_37n	frame_shift_ins	18	48.57	17	INS	1.000:1.000	C
WNT5B	81029	genome.wustl.edu	37	12	1755114	1755116	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr12:1755114_1755116delGCA	ENST00000397196.2	+	5	1008_1010	c.776_778delGCA	c.(775-780)cgcaag>cag	p.259_260RK>Q	WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000310594.3_In_Frame_Del_p.259_260RK>Q|WNT5B_ENST00000537031.1_In_Frame_Del_p.259_260RK>Q	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	259					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)			CGCGTCACCCGCAAGGGCCGGCT	0.68																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	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.776_778delGCA	12.37:g.1755114_1755116delGCA	ENSP00000380379:p.Arg259_Lys260delinsGln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K315|D3DUP9|Q96S49|Q9BV04	In_Frame_Del	DEL	pfam_Wnt,smart_Wnt,prints_Wnt	p.RK259in_frame_delQ	ENST00000397196.2	37	c.776_778	CCDS8510.1	12																																																																																			WNT5B	-	pfam_Wnt,smart_Wnt	ENSG00000111186		0.680	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	14	0.00	0	GCA			1755114	1755116	+1	no_errors	ENST00000310594	ensembl	human	known	69_37n	in_frame_del	7	41.67	5	DEL	0.998:0.585:0.084	-
ZBTB4	57659	genome.wustl.edu	37	17	7370109	7370110	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr17:7370109_7370110insG	ENST00000311403.4	-	3	350_351	c.11_12insC	c.(10-12)cctfs	p.P4fs	ZBTB4_ENST00000380599.4_Frame_Shift_Ins_p.P4fs	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	4					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.A5fs*18(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TCACCTCTGCAGGGGGGGGCAT	0.649																																						dbGAP											2	Insertion - Frameshift(2)	ovary(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.12dupC	17.37:g.7370117_7370117dupG	ENSP00000307858:p.Pro4fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Frame_Shift_Ins	INS	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A5fs	ENST00000311403.4	37	c.12_11	CCDS11107.1	17																																																																																			ZBTB4	-	superfamily_BTB/POZ_fold	ENSG00000174282		0.649	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	31	0.00	0	-	NM_020899		7370109	7370110	-1	no_errors	ENST00000311403	ensembl	human	known	69_37n	frame_shift_ins	17	22.73	5	INS	0.997:1.000	G
ZNF292	23036	genome.wustl.edu	37	6	87965899	87965899	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr6:87965899C>T	ENST00000369577.3	+	8	2595	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	ZNF292_ENST00000339907.4_Missense_Mutation_p.S846F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	851						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCTGGAGATTCCATTCAGCCT	0.413																																						dbGAP											0													48.0	47.0	47.0					6																	87965899		1922	4138	6060	-	-	-	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2552C>T	6.37:g.87965899C>T	ENSP00000358590:p.Ser851Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S851F	ENST00000369577.3	37	c.2552	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	C	4.225	0.040558	0.08196	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08102	3.13;3.14	5.46	4.59	0.56863	.	0.773311	0.12953	N	0.425709	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.23419	0.046	T	0.47560	-0.9108	10	0.17369	T	0.5	.	4.9191	0.13860	0.0:0.6043:0.2088:0.1869	.	851	O60281	ZN292_HUMAN	F	851;846	ENSP00000358590:S851F;ENSP00000342847:S846F	ENSP00000342847:S846F	S	+	2	0	ZNF292	88022618	0.002000	0.14202	0.089000	0.20774	0.781000	0.44180	0.429000	0.21412	1.284000	0.44531	0.655000	0.94253	TCC	ZNF292	-	NULL	ENSG00000188994		0.413	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	93	0.00	0	C	NM_015021		87965899	87965899	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	missense	106	10.17	12	SNP	0.003	T
ZNF791	163049	genome.wustl.edu	37	19	12739846	12739846	+	Silent	SNP	C	C	T			TCGA-AN-A04C-01A-21W-A050-09	TCGA-AN-A04C-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c1302f79-cc50-487a-9db5-016df85e67d7	e0036635-4a4e-485d-8e5d-810964be64a2	g.chr19:12739846C>T	ENST00000343325.4	+	4	1665	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Silent_p.C392C|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000458122.3_Silent_p.C469C|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTAAGGAATGCGGGAAGGCCT	0.388																																						dbGAP											0													74.0	77.0	76.0					19																	12739846		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1503C>T	19.37:g.12739846C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z586|Q8NC99	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.C501	ENST00000343325.4	37	c.1503	CCDS12273.1	19																																																																																			ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.388	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	171	0.00	0	C	NM_153358		12739846	12739846	+1	no_errors	ENST00000343325	ensembl	human	known	69_37n	silent	72	11.11	9	SNP	1.000	T
