#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CEP57	9702	genome.wustl.edu	37	11	95561001	95561002	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr11:95561001_95561002insT	ENST00000325542.5	+	9	1175_1176	c.937_938insT	c.(937-939)ctafs	p.L313fs	CEP57_ENST00000537677.1_Frame_Shift_Ins_p.L286fs|CEP57_ENST00000541150.1_Frame_Shift_Ins_p.L304fs|CEP57_ENST00000325486.5_Frame_Shift_Ins_p.L287fs	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	313	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTCTTGCATCTAATGAAGCAA	0.396									Mosaic Variegated Aneuploidy Syndrome																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.938dupT	11.37:g.95561002_95561002dupT	ENSP00000317902:p.Leu313fs		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Frame_Shift_Ins	INS	pfam_Cep57_MT-bd_dom	p.M314fs	ENST00000325542.5	37	c.937_938	CCDS8304.1	11																																																																																			CEP57	-	pfam_Cep57_MT-bd_dom	ENSG00000166037		0.396	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	86	0.00	0	-	NM_014679		95561001	95561002	+1	no_errors	ENST00000325542	ensembl	human	known	69_37n	frame_shift_ins	38	36.67	22	INS	1.000:0.997	T
DUSP19	142679	genome.wustl.edu	37	2	183943684	183943684	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr2:183943684T>C	ENST00000354221.4	+	1	198	c.23T>C	c.(22-24)aTt>aCt	p.I8T	DUSP19_ENST00000342619.6_Missense_Mutation_p.I8T	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	8					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AACCAGGAAATTAAAGCATTC	0.418																																						dbGAP											0													67.0	66.0	67.0					2																	183943684		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.23T>C	2.37:g.183943684T>C	ENSP00000346160:p.Ile8Thr		B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP	p.I8T	ENST00000354221.4	37	c.23	CCDS2289.1	2	.	.	.	.	.	.	.	.	.	.	T	27.9	4.869100	0.91587	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	T;T	0.23552	1.9;3.4	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.66351	0.943;0.917	T	0.46721	-0.9171	10	0.87932	D	0	.	16.4957	0.84242	0.0:0.0:0.0:1.0	.	8;8	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	T	8	ENSP00000343905:I8T;ENSP00000346160:I8T	ENSP00000343905:I8T	I	+	2	0	DUSP19	183651929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.082000	0.76851	2.371000	0.80710	0.533000	0.62120	ATT	DUSP19	-	NULL	ENSG00000162999		0.418	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP19	HGNC	protein_coding	OTTHUMT00000255866.1	78	0.00	0	T			183943684	183943684	+1	no_errors	ENST00000354221	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	C
FAM154A	158297	genome.wustl.edu	37	9	19032889	19032889	+	Silent	SNP	G	G	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr9:19032889G>A	ENST00000380534.4	-	1	297	c.18C>T	c.(16-18)atC>atT	p.I6I	FAM154A_ENST00000380530.1_Silent_p.I6I|FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	6										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ACAGTTCACAGATGCACTTCG	0.642																																						dbGAP											0													108.0	76.0	87.0					9																	19032889		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.18C>T	9.37:g.19032889G>A			Q5VY58	Silent	SNP	NULL	p.I6	ENST00000380534.4	37	c.18	CCDS6487.1	9																																																																																			FAM154A	-	NULL	ENSG00000155875		0.642	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1	46	0.00	0	G	NM_153707		19032889	19032889	-1	no_errors	ENST00000380534	ensembl	human	known	69_37n	silent	26	16.13	5	SNP	1.000	A
HIST1H3B	8358	genome.wustl.edu	37	6	26032071	26032071	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr6:26032071C>G	ENST00000244661.2	-	1	217	c.218G>C	c.(217-219)cGa>cCa	p.R73P		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	73					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GGCGATTTCTCGCACCAGGCG	0.607																																						dbGAP											0													72.0	78.0	76.0					6																	26032071		2203	4300	6503	-	-	-	SO:0001583	missense	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.218G>C	6.37:g.26032071C>G	ENSP00000244661:p.Arg73Pro		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R73P	ENST00000244661.2	37	c.218	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	15.63	2.891539	0.52014	.	.	ENSG00000124693	ENST00000244661	T	0.77358	-1.09	5.24	5.24	0.73138	.	.	.	.	.	D	0.85128	0.5626	.	.	.	0.45502	D	0.998463	.	.	.	.	.	.	D	0.86798	0.1990	6	0.87932	D	0	.	18.166	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	P	73	ENSP00000244661:R73P	ENSP00000244661:R73P	R	-	2	0	HIST1H3B	26140050	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	5.705000	0.68355	2.595000	0.87683	0.561000	0.74099	CGA	HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.607	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	75	0.00	0	C	NM_003537		26032071	26032071	-1	no_errors	ENST00000244661	ensembl	human	known	69_37n	missense	64	10.96	8	SNP	1.000	G
IQGAP1	8826	genome.wustl.edu	37	15	90969467	90969470	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	AAAT	AAAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr15:90969467_90969470delAAAT	ENST00000268182.5	+	3	405_408	c.281_284delAAAT	c.(280-285)aaaatcfs	p.KI94fs	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	94	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TCCCTGAAAAAAATCTATGATCGA	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.281_284delAAAT	15.37:g.90969467_90969470delAAAT	ENSP00000268182:p.Lys94fs		A7MBM3	Frame_Shift_Del	DEL	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.K94fs	ENST00000268182.5	37	c.281_284	CCDS10362.1	15																																																																																			IQGAP1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000140575		0.446	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	81	0.00	0	AAAT	NM_003870		90969467	90969470	+1	no_errors	ENST00000268182	ensembl	human	known	69_37n	frame_shift_del	47	16.07	9	DEL	1.000:1.000:1.000:1.000	-
KCNJ14	3770	genome.wustl.edu	37	19	48967521	48967521	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr19:48967521C>G	ENST00000391884.1	+	2	1274	c.798C>G	c.(796-798)atC>atG	p.I266M	CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.6_ENST00000597574.1_lincRNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.I266M|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	266					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CCGATCGTATCTTCCTCGTGT	0.607																																					NSCLC(148;170 3504 35216)	dbGAP											0													134.0	96.0	109.0					19																	48967521		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.798C>G	19.37:g.48967521C>G	ENSP00000375756:p.Ile266Met			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	p.I266M	ENST00000391884.1	37	c.798	CCDS12721.1	19	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033417	0.75504	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94758	-3.51;-3.51	5.4	4.36	0.52297	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97368	0.9139	M	0.88241	2.94	0.52099	D	0.999945	D	0.63046	0.992	D	0.71870	0.975	D	0.98130	1.0430	10	0.87932	D	0	.	14.4646	0.67475	0.0:0.8521:0.1479:0.0	.	266	Q9UNX9	IRK14_HUMAN	M	266	ENSP00000341479:I266M;ENSP00000375756:I266M	ENSP00000341479:I266M	I	+	3	3	KCNJ14	53659333	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.222000	0.42926	1.430000	0.47334	0.655000	0.94253	ATC	KCNJ14	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	ENSG00000182324		0.607	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	88	0.00	0	C	NM_013348		48967521	48967521	+1	no_errors	ENST00000342291	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	G
LAIR2	3904	genome.wustl.edu	37	19	55019321	55019321	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr19:55019321G>A	ENST00000301202.2	+	3	408	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	LAIR2_ENST00000351841.2_Missense_Mutation_p.A96T	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	96	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TGAAGGAAATGCCGGGCTTTA	0.498																																						dbGAP											0													122.0	112.0	116.0					19																	55019321		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.286G>A	19.37:g.55019321G>A	ENSP00000301202:p.Ala96Thr		Q6PEZ4	Missense_Mutation	SNP	smart_Ig_sub	p.A96T	ENST00000301202.2	37	c.286	CCDS12897.1	19	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785867	0.49997	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.14766	2.48;2.48	3.63	-2.23	0.06930	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.695030	0.03481	N	0.215046	T	0.31389	0.0795	M	0.70275	2.135	0.09310	N	1	D;D	0.71674	0.998;0.985	D;P	0.81914	0.995;0.716	T	0.27938	-1.0059	10	0.46703	T	0.11	.	3.6875	0.08334	0.4451:0.1945:0.3604:0.0	.	96;96	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	T	96	ENSP00000301202:A96T;ENSP00000301203:A96T	ENSP00000301202:A96T	A	+	1	0	LAIR2	59711133	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	1.158000	0.31737	-0.450000	0.07107	0.313000	0.20887	GCC	LAIR2	-	smart_Ig_sub	ENSG00000167618		0.498	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR2	HGNC	protein_coding	OTTHUMT00000140801.1	86	0.00	0	G			55019321	55019321	+1	no_errors	ENST00000301202	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	0.000	A
LRRC37A2	474170	genome.wustl.edu	37	17	44623731	44623731	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr17:44623731C>T	ENST00000576629.1	+	9	3659	c.3164C>T	c.(3163-3165)aCa>aTa	p.T1055I	ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.T1055I			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1055						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ACAAACACCACACATTGTCGT	0.368																																						dbGAP											0													1.0	2.0	2.0					17																	44623731		518	1407	1925	-	-	-	SO:0001583	missense	0			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3164C>T	17.37:g.44623731C>T	ENSP00000459551:p.Thr1055Ile		B7ZMC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T1055I	ENST00000576629.1	37	c.3164	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	c	4.323	0.059256	0.08339	.	.	ENSG00000238083	ENST00000333412	T	0.60920	0.15	3.66	1.55	0.23275	.	.	.	.	.	T	0.27027	0.0662	N	0.02158	-0.66	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.19811	-1.0294	9	0.29301	T	0.29	.	6.1629	0.20373	0.182:0.7024:0.0:0.1157	.	1055	A6NM11	L37A2_HUMAN	I	1055	ENSP00000333071:T1055I	ENSP00000333071:T1055I	T	+	2	0	LRRC37A2	41979047	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.973000	0.03798	-0.048000	0.13401	-1.514000	0.00941	ACA	LRRC37A2	-	NULL	ENSG00000238083		0.368	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	11	0.00	0	C	NM_001006607		44623731	44623731	+1	no_errors	ENST00000333412	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.001	T
LLGL2	3993	genome.wustl.edu	37	17	73566549	73566549	+	Silent	SNP	G	G	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr17:73566549G>A	ENST00000392550.3	+	16	2112	c.1995G>A	c.(1993-1995)cgG>cgA	p.R665R	LLGL2_ENST00000577200.1_Silent_p.R665R|LLGL2_ENST00000167462.5_Silent_p.R665R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	665					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGTCCAGCCGGAAGCGGCACC	0.706																																						dbGAP											0													12.0	12.0	12.0					17																	73566549		2159	4258	6417	-	-	-	SO:0001819	synonymous_variant	0			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1995G>A	17.37:g.73566549G>A			Q14521|Q9BR62	Silent	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.R665	ENST00000392550.3	37	c.1995	CCDS32733.1	17																																																																																			LLGL2	-	NULL	ENSG00000073350		0.706	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	23	0.00	0	G	NM_004524		73566549	73566549	+1	no_errors	ENST00000392550	ensembl	human	known	69_37n	silent	14	25.00	5	SNP	0.925	A
LRRTM3	347731	genome.wustl.edu	37	10	68857462	68857462	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr10:68857462G>C	ENST00000361320.4	+	3	2232	c.1654G>C	c.(1654-1656)Gat>Cat	p.D552H	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	552					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.D552H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGCACAGGAAGATACGATGGA	0.473																																						dbGAP											2	Substitution - Missense(2)	breast(2)											172.0	148.0	156.0					10																	68857462		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1654G>C	10.37:g.68857462G>C	ENSP00000355187:p.Asp552His		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.D552H	ENST00000361320.4	37	c.1654	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187417	0.38609	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.75260	-0.92	5.92	5.92	0.95590	.	0.130684	0.34802	N	0.003674	T	0.57417	0.2052	N	0.08118	0	0.43164	D	0.994954	B	0.27316	0.175	B	0.12837	0.008	T	0.58719	-0.7587	10	0.59425	D	0.04	.	17.2511	0.87042	0.0:0.0:1.0:0.0	.	552	Q86VH5	LRRT3_HUMAN	H	552	ENSP00000355187:D552H	ENSP00000355187:D552H	D	+	1	0	LRRTM3	68527468	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.780000	0.75063	2.822000	0.97130	0.650000	0.86243	GAT	LRRTM3	-	NULL	ENSG00000198739		0.473	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	80	0.00	0	G	NM_178011		68857462	68857462	+1	no_errors	ENST00000361320	ensembl	human	known	69_37n	missense	51	12.07	7	SNP	1.000	C
C7orf55-LUC7L2	100996928	genome.wustl.edu	37	7	139097295	139097295	+	Splice_Site	SNP	A	A	G	rs78245886		TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr7:139097295A>G	ENST00000354926.4	+	8	1133		c.e8-1		LUC7L2_ENST00000541515.3_Splice_Site|C7orf55-LUC7L2_ENST00000263545.6_Splice_Site|C7orf55-LUC7L2_ENST00000541170.3_Splice_Site	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		TTTTTTTTTTAGGTCCCGATC	0.284																																						dbGAP											0													95.0	94.0	94.0					7																	139097295		1799	4066	5865	-	-	-	SO:0001630	splice_region_variant	0				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.780-1A>G	7.37:g.139097295A>G				Splice_Site	SNP	-	e9-2	ENST00000354926.4	37	c.978-2	CCDS43656.1	7	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271195	0.80469	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1756	0.65539	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LUC7L2	138747835	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.250000	0.72435	2.089000	0.63090	0.528000	0.53228	.	LUC7L2	-	-	ENSG00000146963		0.284	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L2	HGNC	protein_coding	OTTHUMT00000323618.2	120	0	0	A		Intron	139097295	139097295	+1	no_errors	ENST00000541515	ensembl	human	known	69_37n	splice_site	55	43.3	42	SNP	1.000	G
KMT2C	58508	genome.wustl.edu	37	7	151859625	151859625	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr7:151859625delT	ENST00000262189.6	-	43	11255	c.11037delA	c.(11035-11037)gaafs	p.E3679fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.E3679fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3679					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGTTCTCTAATTCTGTACATA	0.493																																						dbGAP											0													162.0	165.0	164.0					7																	151859625		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11037delA	7.37:g.151859625delT	ENSP00000262189:p.Glu3679fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E3679fs	ENST00000262189.6	37	c.11037	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.493	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	125	0.00	0	T			151859625	151859625	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	91	17.86	20	DEL	0.004	-
NOSIP	51070	genome.wustl.edu	37	19	50059664	50059664	+	Silent	SNP	G	G	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr19:50059664G>A	ENST00000596358.1	-	8	802	c.744C>T	c.(742-744)ctC>ctT	p.L248L	NOSIP_ENST00000339093.3_Silent_p.L251L|NOSIP_ENST00000391853.3_Silent_p.L248L	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	248					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CCACGCATTCGAGGGTGACCA	0.627																																						dbGAP											0													96.0	75.0	82.0					19																	50059664		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.744C>T	19.37:g.50059664G>A			Q96FD2	Silent	SNP	pirsf_Nitric_oxide_synth-interacting	p.L248	ENST00000596358.1	37	c.744	CCDS12772.1	19																																																																																			NOSIP	-	pirsf_Nitric_oxide_synth-interacting	ENSG00000142546		0.627	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOSIP	HGNC	protein_coding	OTTHUMT00000465423.1	30	0.00	0	G			50059664	50059664	-1	no_errors	ENST00000339093	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	0.003	A
PCDHGA3	56112	genome.wustl.edu	37	5	140725783	140725783	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr5:140725783C>T	ENST00000253812.6	+	1	2183	c.2183C>T	c.(2182-2184)tCg>tTg	p.S728L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	728					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGCTTCGGGAGGCGGC	0.687																																						dbGAP											0													59.0	66.0	63.0					5																	140725783		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2183C>T	5.37:g.140725783C>T	ENSP00000253812:p.Ser728Leu		Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S728L	ENST00000253812.6	37	c.2183	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259076	0.39896	.	.	ENSG00000254245	ENST00000253812	T	0.49139	0.79	5.33	5.33	0.75918	.	0.757856	0.10135	U	0.711549	T	0.54127	0.1839	M	0.86805	2.84	0.09310	N	1	B;B	0.21688	0.059;0.003	B;B	0.20767	0.031;0.008	T	0.55755	-0.8091	10	0.12103	T	0.63	.	13.9224	0.63940	0.191:0.809:0.0:0.0	.	728;728	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	L	728	ENSP00000253812:S728L	ENSP00000253812:S728L	S	+	2	0	PCDHGA3	140705967	0.000000	0.05858	0.005000	0.12908	0.059000	0.15707	0.655000	0.24933	2.653000	0.90120	0.563000	0.77884	TCG	PCDHGA3	-	NULL	ENSG00000254245		0.687	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	109	0.00	0	C	NM_018916		140725783	140725783	+1	no_errors	ENST00000253812	ensembl	human	known	69_37n	missense	58	33.33	29	SNP	0.067	T
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		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)	CCTACGTGAATGTAAATATTC	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"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	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.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys		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.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	36	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	15	77.27	51	SNP	1.000	A
PLEKHG1	57480	genome.wustl.edu	37	6	151152648	151152648	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr6:151152648C>G	ENST00000358517.2	+	15	2612	c.2401C>G	c.(2401-2403)Cag>Gag	p.Q801E	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q801E			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	801							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCCTTACCATCAGGCCACTCC	0.512																																						dbGAP											0													110.0	107.0	108.0					6																	151152648		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2401C>G	6.37:g.151152648C>G	ENSP00000351318:p.Gln801Glu		Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q801E	ENST00000358517.2	37	c.2401	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	C	7.575	0.667508	0.14710	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58358	0.34;0.34	5.79	5.79	0.91817	.	0.381617	0.32640	N	0.005836	T	0.31389	0.0795	L	0.47716	1.5	0.09310	N	1	B;B;B	0.26672	0.156;0.156;0.156	B;B;B	0.21917	0.023;0.026;0.037	T	0.16988	-1.0384	10	0.59425	D	0.04	.	14.2168	0.65797	0.0:0.9288:0.0:0.0712	.	608;801;801	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	E	801	ENSP00000356297:Q801E;ENSP00000351318:Q801E	ENSP00000351318:Q801E	Q	+	1	0	PLEKHG1	151194341	0.954000	0.32549	0.042000	0.18584	0.012000	0.07955	2.761000	0.47589	2.743000	0.94032	0.609000	0.83330	CAG	PLEKHG1	-	NULL	ENSG00000120278		0.512	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	86	0.00	0	C			151152648	151152648	+1	no_errors	ENST00000358517	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	0.126	G
POLE2	5427	genome.wustl.edu	37	14	50118020	50118020	+	Silent	SNP	A	A	T			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr14:50118020A>T	ENST00000216367.5	-	16	1386	c.1287T>A	c.(1285-1287)cgT>cgA	p.R429R	POLE2_ENST00000539565.2_Silent_p.R403R|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Silent_p.R429R	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	429					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	TGCTAGGAAAACGGACGCAGT	0.328																																						dbGAP											0													79.0	80.0	80.0					14																	50118020		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1287T>A	14.37:g.50118020A>T			A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu	p.R429	ENST00000216367.5	37	c.1287	CCDS32073.1	14																																																																																			POLE2	-	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_e_bsu	ENSG00000100479		0.328	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	POLE2	HGNC	protein_coding	OTTHUMT00000410512.1	71	0.00	0	A	NM_002692		50118020	50118020	-1	no_errors	ENST00000216367	ensembl	human	known	69_37n	silent	79	44.37	63	SNP	0.997	T
RMI1	80010	genome.wustl.edu	37	9	86616967	86616967	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr9:86616967C>A	ENST00000325875.3	+	3	1398	c.1066C>A	c.(1066-1068)Cct>Act	p.P356T		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	356					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.P356>?(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TTCACATAATCCTAATACTAC	0.313																																						dbGAP											1	Complex(1)	skin(1)											45.0	48.0	47.0					9																	86616967		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1066C>A	9.37:g.86616967C>A	ENSP00000317039:p.Pro356Thr		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	pfam_DUF1767	p.P356T	ENST00000325875.3	37	c.1066	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.884708	0.00532	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.43294	0.95;1.55	5.52	-0.0995	0.13624	.	0.442410	0.23435	N	0.048202	T	0.28200	0.0696	L	0.29908	0.895	0.09310	N	1	B	0.28713	0.22	B	0.30495	0.116	T	0.16689	-1.0394	10	0.40728	T	0.16	-0.0949	9.6077	0.39643	0.0:0.4546:0.0:0.5454	.	356	Q9H9A7	RMI1_HUMAN	T	356	ENSP00000402433:P356T;ENSP00000317039:P356T	ENSP00000317039:P356T	P	+	1	0	RMI1	85806787	0.008000	0.16893	0.006000	0.13384	0.134000	0.20937	0.151000	0.16283	-0.194000	0.10399	0.655000	0.94253	CCT	RMI1	-	NULL	ENSG00000178966		0.313	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	57	0.00	0	C	NM_024945		86616967	86616967	+1	no_errors	ENST00000325875	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.004	A
RRP1	8568	genome.wustl.edu	37	21	45222219	45222219	+	Silent	SNP	G	G	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr21:45222219G>A	ENST00000497547.1	+	12	1191	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GGAGGCGGCAGAAGAAGACGA	0.597																																						dbGAP											0													91.0	108.0	102.0					21																	45222219		1972	4152	6124	-	-	-	SO:0001819	synonymous_variant	0			U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.1074G>A	21.37:g.45222219G>A			A6NIB2	Silent	SNP	pfam_Nop52	p.Q358	ENST00000497547.1	37	c.1074	CCDS42951.1	21																																																																																			RRP1	-	NULL	ENSG00000160214		0.597	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1	HGNC	protein_coding	OTTHUMT00000195680.1	73	0.00	0	G	NM_003683		45222219	45222219	+1	no_errors	ENST00000497547	ensembl	human	known	69_37n	silent	36	14.29	6	SNP	0.000	A
SGK3	23678	genome.wustl.edu	37	8	67716646	67716646	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr8:67716646C>A	ENST00000396596.1	+	4	431	c.217C>A	c.(217-219)Cct>Act	p.P73T	SGK3_ENST00000522398.1_Missense_Mutation_p.P73T|SGK3_ENST00000345714.4_Missense_Mutation_p.P73T|SGK3_ENST00000521198.2_Missense_Mutation_p.P73T|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.P73T|SGK3_ENST00000520976.1_Missense_Mutation_p.P73T	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	73	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCTGAAGATTCCTGCCAAGAG	0.303																																						dbGAP											0													74.0	78.0	77.0					8																	67716646		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.217C>A	8.37:g.67716646C>A	ENSP00000379842:p.Pro73Thr		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.P73T	ENST00000396596.1	37	c.217	CCDS6195.1	8	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697662	0.88830	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000521960;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000518388;ENST00000345714;ENST00000521152	T;T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.39	5.39	0.77823	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.90208	0.6939	H	0.97635	4.045	0.50313	D	0.999862	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93340	0.6709	9	0.87932	D	0	.	18.2904	0.90127	0.0:1.0:0.0:0.0	.	73;73	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	T	73;73;73;6;73;73;73;73;73;73;6	ENSP00000429022:P73T;ENSP00000430463:P73T;ENSP00000430475:P6T;ENSP00000430256:P73T;ENSP00000429606:P73T;ENSP00000430691:P73T;ENSP00000379842:P73T;ENSP00000428972:P73T;ENSP00000331816:P73T;ENSP00000429565:P6T	ENSP00000262211:P73T	P	+	1	0	SGK3	67879200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.988000	0.76212	2.695000	0.91970	0.655000	0.94253	CCT	SGK3	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000104205		0.303	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	77	0.00	0	C			67716646	67716646	+1	no_errors	ENST00000262211	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	A
SLC17A8	246213	genome.wustl.edu	37	12	100795586	100795586	+	Silent	SNP	C	C	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr12:100795586C>A	ENST00000323346.5	+	6	1021	c.708C>A	c.(706-708)ccC>ccA	p.P236P	SLC17A8_ENST00000392989.3_Silent_p.P236P|snoU13_ENST00000459038.1_RNA	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	236					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTGCCATGCCCCTGGCTGGGG	0.448																																						dbGAP											0													293.0	278.0	283.0					12																	100795586		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.708C>A	12.37:g.100795586C>A			B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P236	ENST00000323346.5	37	c.708	CCDS9077.1	12																																																																																			SLC17A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000179520		0.448	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	191	0.00	0	C	NM_139319		100795586	100795586	+1	no_errors	ENST00000323346	ensembl	human	known	69_37n	silent	121	24.22	39	SNP	0.736	A
SLC37A2	219855	genome.wustl.edu	37	11	124949049	124949049	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr11:124949049C>T	ENST00000403796.2	+	5	657	c.356C>T	c.(355-357)tCa>tTa	p.S119L	SLC37A2_ENST00000407458.1_Missense_Mutation_p.S119L|SLC37A2_ENST00000298280.5_Missense_Mutation_p.S119L|SLC37A2_ENST00000308074.4_Missense_Mutation_p.S119L	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	119					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TACTACCTCTCAGCTGGAATG	0.532																																					Melanoma(11;373 620 21213 26083 47768)	dbGAP											0													152.0	145.0	148.0					11																	124949049		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.356C>T	11.37:g.124949049C>T	ENSP00000384407:p.Ser119Leu		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S119L	ENST00000403796.2	37	c.356	CCDS44757.1	11	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026795	0.54683	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000532000;ENST00000308074	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	4.59	3.59	0.41128	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.308780	0.32002	N	0.006739	T	0.53626	0.1808	M	0.68593	2.085	0.19775	N	0.999957	P;B	0.41366	0.747;0.27	P;B	0.47299	0.543;0.41	T	0.52924	-0.8510	10	0.66056	D	0.02	-3.7723	12.8892	0.58061	0.0:0.9061:0.0:0.0939	.	119;119	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	L	119;119;119;82;119	ENSP00000384407:S119L;ENSP00000385126:S119L;ENSP00000298280:S119L;ENSP00000432254:S82L;ENSP00000311833:S119L	ENSP00000298280:S119L	S	+	2	0	SLC37A2	124454259	0.273000	0.24181	0.040000	0.18447	0.750000	0.42670	1.915000	0.39976	2.387000	0.81309	0.655000	0.94253	TCA	SLC37A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000134955		0.532	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	HGNC	protein_coding	OTTHUMT00000386837.1	89	0.00	0	C	XM_166184		124949049	124949049	+1	no_errors	ENST00000308074	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	0.044	T
SPOPL	339745	genome.wustl.edu	37	2	139316712	139316712	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr2:139316712G>T	ENST00000280098.4	+	6	980	c.601G>T	c.(601-603)Gac>Tac	p.D201Y		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	201	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AAGATTTACAGACTGCAGTTT	0.348																																						dbGAP											0													107.0	118.0	114.0					2																	139316712		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.601G>T	2.37:g.139316712G>T	ENSP00000280098:p.Asp201Tyr			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.D201Y	ENST00000280098.4	37	c.601	CCDS33298.1	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574777	0.86542	.	.	ENSG00000144228	ENST00000280098	D	0.91464	-2.85	5.06	5.06	0.68205	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.97773	0.9269	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99761	1.1021	9	.	.	.	-3.2466	18.7941	0.91987	0.0:0.0:1.0:0.0	.	201	Q6IQ16	SPOPL_HUMAN	Y	201	ENSP00000280098:D201Y	.	D	+	1	0	SPOPL	139033182	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.498000	0.84270	0.591000	0.81541	GAC	SPOPL	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000144228		0.348	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1	106	0.00	0	G			139316712	139316712	+1	no_errors	ENST00000280098	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	1.000	T
STAP2	55620	genome.wustl.edu	37	19	4324465	4324465	+	Silent	SNP	G	G	C			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr19:4324465G>C	ENST00000594605.1	-	12	1257	c.1134C>G	c.(1132-1134)ctC>ctG	p.L378L	STAP2_ENST00000600324.1_Silent_p.L424L|STAP2_ENST00000597593.1_5'Flank	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	378						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGGGGAAGAGAGGCTGGG	0.612																																						dbGAP											0													19.0	19.0	19.0					19																	4324465		2177	4252	6429	-	-	-	SO:0001819	synonymous_variant	0			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.1134C>G	19.37:g.4324465G>C			A6NKK3|Q9NXI2	Silent	SNP	pfscan_SH2	p.L424	ENST00000594605.1	37	c.1272	CCDS45926.1	19																																																																																			STAP2	-	NULL	ENSG00000178078		0.612	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2	21	0.00	0	G	NM_001013841		4324465	4324465	-1	no_errors	ENST00000314714	ensembl	human	known	69_37n	silent	28	17.65	6	SNP	0.000	C
TACC1	6867	genome.wustl.edu	37	8	38693781	38693781	+	Silent	SNP	C	C	T			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr8:38693781C>T	ENST00000317827.4	+	7	2194	c.1815C>T	c.(1813-1815)gcC>gcT	p.A605A	TACC1_ENST00000330691.6_Silent_p.A179A|TACC1_ENST00000519416.1_Silent_p.A409A|TACC1_ENST00000348567.4_Silent_p.A167A|TACC1_ENST00000520340.1_Silent_p.A540A|TACC1_ENST00000520973.1_Silent_p.A381A|TACC1_ENST00000520615.1_Silent_p.A410A|TACC1_ENST00000443286.2_Silent_p.A592A|TACC1_ENST00000276520.8_Silent_p.A195A|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000518415.1_Silent_p.A531A|TACC1_ENST00000520611.1_Silent_p.A43A|TACC1_ENST00000379931.3_Silent_p.A617A	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	605					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ACAAGACAGCCGTGCTCACCT	0.527																																						dbGAP											0													87.0	92.0	90.0					8																	38693781		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1815C>T	8.37:g.38693781C>T			B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.P363L	ENST00000317827.4	37	c.1088	CCDS6109.1	8	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346405	0.24426	.	.	ENSG00000147526	ENST00000521866;ENST00000518809	.	.	.	5.02	-7.38	0.01407	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49725	-0.8909	4	.	.	.	-9.8434	6.7585	0.23528	0.088:0.2289:0.087:0.5961	.	.	.	.	L	363;255	.	.	P	+	2	0	TACC1	38812938	0.000000	0.05858	0.535000	0.28026	0.966000	0.64601	-5.142000	0.00147	-1.536000	0.01738	-0.691000	0.03719	CCG	TACC1	-	pfam_TACC	ENSG00000147526		0.527	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	57	0.00	0	C	NM_006283		38693781	38693781	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000521866	ensembl	human	putative	69_37n	missense	37	15.91	7	SNP	0.223	T
TTN	7273	genome.wustl.edu	37	2	179640219	179640219	+	Silent	SNP	G	G	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr2:179640219G>A	ENST00000591111.1	-	28	6596	c.6372C>T	c.(6370-6372)atC>atT	p.I2124I	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I2078I|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Silent_p.I2078I|TTN_ENST00000589042.1_Silent_p.I2124I|TTN_ENST00000342992.6_Silent_p.I2124I|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Silent_p.I2078I|TTN_ENST00000360870.5_Silent_p.I2124I			Q8WZ42	TITIN_HUMAN	titin	12811	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTACCAGTAGATCCGGTCAG	0.478																																						dbGAP											0													89.0	91.0	91.0					2																	179640219		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6372C>T	2.37:g.179640219G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I2124	ENST00000591111.1	37	c.6372		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	69	0.00	0	G	NM_133378		179640219	179640219	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	0.997	A
UBE4A	9354	genome.wustl.edu	37	11	118255404	118255404	+	Missense_Mutation	SNP	T	T	G			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr11:118255404T>G	ENST00000431736.2	+	14	2345	c.2273T>G	c.(2272-2274)aTc>aGc	p.I758S	UBE4A_ENST00000545354.1_Missense_Mutation_p.I223S|UBE4A_ENST00000252108.3_Missense_Mutation_p.I751S					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATGTATCCTATCCTAAGATAC	0.438																																						dbGAP											0													83.0	76.0	79.0					11																	118255404		2200	4296	6496	-	-	-	SO:0001583	missense	0			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2273T>G	11.37:g.118255404T>G	ENSP00000387362:p.Ile758Ser			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.I758S	ENST00000431736.2	37	c.2273	CCDS8396.1	11	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802312	0.90538	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.67523	-0.27;-0.27;0.7	5.82	5.82	0.92795	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	M	0.74647	2.275	0.80722	D	1	P;P	0.52170	0.951;0.617	P;B	0.54499	0.754;0.308	T	0.80915	-0.1169	10	0.87932	D	0	-14.7567	16.1832	0.81925	0.0:0.0:0.0:1.0	.	751;758	Q14139;Q14139-2	UBE4A_HUMAN;.	S	751;758;223	ENSP00000252108:I751S;ENSP00000387362:I758S;ENSP00000438918:I223S	ENSP00000252108:I751S	I	+	2	0	UBE4A	117760614	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.291000	0.72719	2.228000	0.72767	0.533000	0.62120	ATC	UBE4A	-	pfam_Ub_conjug_fac_E4_core	ENSG00000110344		0.438	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBE4A	HGNC	protein_coding	OTTHUMT00000398143.1	78	0.00	0	T	NM_004788		118255404	118255404	+1	no_errors	ENST00000431736	ensembl	human	known	69_37n	missense	43	20.37	11	SNP	1.000	G
USP5	8078	genome.wustl.edu	37	12	6972518	6972518	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr12:6972518delC	ENST00000229268.8	+	15	1983	c.1931delC	c.(1930-1932)tccfs	p.S644fs	USP5_ENST00000389231.5_Intron|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	644	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TCCTTCTGCTCCCCTCACTTC	0.587																																						dbGAP											0													144.0	150.0	148.0					12																	6972518		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1931delC	12.37:g.6972518delC	ENSP00000229268:p.Ser644fs		D3DUS7|D3DUS8|Q96J22	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.P645fs	ENST00000229268.8	37	c.1931	CCDS41743.1	12																																																																																			USP5	-	pfam_Peptidase_C19,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19	ENSG00000111667		0.587	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1	100	0.00	0	C			6972518	6972518	+1	no_errors	ENST00000229268	ensembl	human	known	69_37n	frame_shift_del	83	13.54	13	DEL	1.000	-
WDR60	55112	genome.wustl.edu	37	7	158734770	158734770	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr7:158734770A>G	ENST00000407559.3	+	24	3091	c.2933A>G	c.(2932-2934)aAc>aGc	p.N978S		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	978					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GACACATCCAACATCTACATC	0.632																																						dbGAP											0													59.0	61.0	61.0					7																	158734770		2020	4179	6199	-	-	-	SO:0001583	missense	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2933A>G	7.37:g.158734770A>G	ENSP00000384290:p.Asn978Ser		Q9NW58	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.N978S	ENST00000407559.3	37	c.2933	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	A	0.044	-1.274530	0.01410	.	.	ENSG00000126870	ENST00000407559	T	0.64260	-0.09	5.57	-2.65	0.06095	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.597438	0.18046	N	0.153443	T	0.31009	0.0783	N	0.11255	0.115	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.21827	-1.0234	10	0.11485	T	0.65	-7.1994	5.987	0.19440	0.3873:0.2354:0.3773:0.0	.	461;978	A4D230;Q8WVS4	.;WDR60_HUMAN	S	978	ENSP00000384290:N978S	ENSP00000384290:N978S	N	+	2	0	WDR60	158427531	0.000000	0.05858	0.003000	0.11579	0.024000	0.10985	-0.159000	0.10056	-0.133000	0.11537	-0.411000	0.06167	AAC	WDR60	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000126870		0.632	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	29	0.00	0	A	NM_018051		158734770	158734770	+1	no_errors	ENST00000407559	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	0.004	G
WIPF1	7456	genome.wustl.edu	37	2	175446104	175446104	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr2:175446104C>G	ENST00000392547.2	-	3	214	c.115G>C	c.(115-117)Gat>Cat	p.D39H	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.D39H|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.D39H|WIPF1_ENST00000272746.5_Missense_Mutation_p.D39H|WIPF1_ENST00000409415.3_Missense_Mutation_p.D39H|WIPF1_ENST00000409891.1_Missense_Mutation_p.D39H|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.D39H	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	39	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TTGCTGATATCAGAAAGGAGA	0.438																																						dbGAP											0													331.0	304.0	313.0					2																	175446104		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.115G>C	2.37:g.175446104C>G	ENSP00000376330:p.Asp39His		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	smart_WH2_dom,pfscan_WH2_dom	p.D39H	ENST00000392547.2	37	c.115	CCDS2260.1	2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853228	0.91355	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.76	5.76	0.90799	Actin-binding WH2 (2);	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	M	0.92268	3.29	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.84542	0.0639	10	0.87932	D	0	.	19.5527	0.95328	0.0:1.0:0.0:0.0	.	39;39;39;39	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	H	39	ENSP00000376330:D39H;ENSP00000272746:D39H;ENSP00000352802:D39H;ENSP00000376329:D39H;ENSP00000386431:D39H;ENSP00000387150:D39H;ENSP00000391785:D39H;ENSP00000386757:D39H;ENSP00000388454:D39H	ENSP00000272746:D39H	D	-	1	0	WIPF1	175154350	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	7.098000	0.76974	2.736000	0.93811	0.655000	0.94253	GAT	WIPF1	-	smart_WH2_dom,pfscan_WH2_dom	ENSG00000115935		0.438	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	171	0.00	0	C	NM_003387		175446104	175446104	-1	no_errors	ENST00000272746	ensembl	human	known	69_37n	missense	117	13.33	18	SNP	1.000	G
ZFAT	57623	genome.wustl.edu	37	8	135614282	135614282	+	Silent	SNP	C	C	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr8:135614282C>A	ENST00000377838.3	-	6	1854	c.1680G>T	c.(1678-1680)gtG>gtT	p.V560V	ZFAT_ENST00000520214.1_Silent_p.V548V|ZFAT_ENST00000523399.1_Silent_p.V498V|ZFAT_ENST00000520356.1_Silent_p.V548V|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Silent_p.V548V|ZFAT_ENST00000429442.2_Silent_p.V548V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	560					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGGCCAGGTGCACAGCTGGGG	0.642																																						dbGAP											0													16.0	18.0	18.0					8																	135614282		1904	4122	6026	-	-	-	SO:0001819	synonymous_variant	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1680G>T	8.37:g.135614282C>A			B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V560	ENST00000377838.3	37	c.1680	CCDS47924.1	8																																																																																			ZFAT	-	NULL	ENSG00000066827		0.642	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	29	0.00	0	C	NM_001029939		135614282	135614282	-1	no_errors	ENST00000377838	ensembl	human	known	69_37n	silent	7	50.00	7	SNP	0.000	A
ZNF347	84671	genome.wustl.edu	37	19	53643755	53643755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E9-A226-01A-21D-A159-09	TCGA-E9-A226-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	866e5e9b-4e6c-49e2-9ea6-560f9bd99c2b	9636c488-836e-43f1-a9c4-4fbcf7d704fc	g.chr19:53643755G>A	ENST00000334197.7	-	5	2394	c.2326C>T	c.(2326-2328)Caa>Taa	p.Q776*	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Nonsense_Mutation_p.Q777*|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.Q777*	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	776					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)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTTGAAGTTTGACTAAAGGCT	0.428																																					Melanoma(64;205 1597 17324 45721)	dbGAP											0													159.0	158.0	158.0					19																	53643755		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2326C>T	19.37:g.53643755G>A	ENSP00000334146:p.Gln776*		B3KU77|B9EG59|G5E9N4|Q8TCN1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q777*	ENST00000334197.7	37	c.2329	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341364	0.81911	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	.	.	.	2.18	-0.121	0.13535	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	3.7205	0.08454	0.2641:0.2255:0.5104:0.0	.	.	.	.	X	776;777	.	ENSP00000334146:Q776X	Q	-	1	0	ZNF347	58335567	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.746000	0.00377	0.242000	0.21303	0.650000	0.86243	CAA	ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197937		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	126	0.00	0	G	NM_032584		53643755	53643755	-1	no_errors	ENST00000452676	ensembl	human	known	69_37n	nonsense	63	12.50	9	SNP	0.000	A
