#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CDH1	999	genome.wustl.edu	37	16	68849641	68849642	+	In_Frame_Ins	INS	-	-	ATA			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr16:68849641_68849642insATA	ENST00000261769.5	+	10	1735_1736	c.1544_1545insATA	c.(1543-1548)acattt>acATAattt	p.515_516TF>T*F	CDH1_ENST00000422392.2_In_Frame_Ins_p.454_455TF>T*F|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	515	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGCCAGACACATTTATGGAAC	0.416			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	1	Unknown(1)	breast(1)																																								-	-	-	SO:0001652	inframe_insertion	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	Exception_encountered	16.37:g.68849641_68849642insATA	ENSP00000261769:p.Phe516*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	In_Frame_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.FME516in_frame_ins*	ENST00000261769.5	37	c.1544_1545	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.416	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	72	0.00	0	-	NM_004360		68849641	68849642	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	in_frame_ins	51	20.31	13	INS	0.000:0.000	ATA
CDR1	1038	genome.wustl.edu	37	X	139865867	139865867	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chrX:139865867C>T	ENST00000370532.2	-	1	856	c.665G>A	c.(664-666)gGa>gAa	p.G222E		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	222										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCTACGTCTTCCACCAAATCC	0.438																																						dbGAP											0													119.0	113.0	115.0					X																	139865867		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.665G>A	X.37:g.139865867C>T	ENSP00000359563:p.Gly222Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXH6	Missense_Mutation	SNP	NULL	p.G222E	ENST00000370532.2	37	c.665	CCDS14670.1	X	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019101	0.75275	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.58	3.71	0.42584	.	.	.	.	.	T	0.20373	0.0490	N	0.08118	0	0.25759	N	0.984966	D	0.55385	0.971	P	0.47786	0.557	T	0.05402	-1.0887	7	.	.	.	.	10.3451	0.43901	0.0:0.8962:0.0:0.1037	.	222	P51861	CDR1_HUMAN	E	222	.	.	G	-	2	0	CDR1	139693533	0.977000	0.34250	0.958000	0.39756	0.275000	0.26752	0.895000	0.28363	0.988000	0.38734	0.422000	0.28245	GGA	CDR1	-	NULL	ENSG00000184258		0.438	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	HGNC	protein_coding	OTTHUMT00000058583.1	94	0.00	0	C	NM_004065		139865867	139865867	-1	no_errors	ENST00000370532	ensembl	human	known	69_37n	missense	107	13.71	17	SNP	0.999	T
COMT	1312	genome.wustl.edu	37	22	19956088	19956088	+	Silent	SNP	G	G	T			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr22:19956088G>T	ENST00000361682.6	+	6	1027	c.645G>T	c.(643-645)gtG>gtT	p.V215V	COMT_ENST00000449653.1_Silent_p.V165V|COMT_ENST00000407537.1_Silent_p.V165V|COMT_ENST00000406520.3_Silent_p.V215V|COMT_ENST00000403710.1_Silent_p.V215V	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	215					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	AGGGGACAGTGCTACTGGCTG	0.617																																						dbGAP											0													82.0	64.0	70.0					22																	19956088		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.645G>T	22.37:g.19956088G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk	p.V215	ENST00000361682.6	37	c.645	CCDS13770.1	22																																																																																			COMT	-	pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk	ENSG00000093010		0.617	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	COMT	HGNC	protein_coding	OTTHUMT00000318936.2	40	0.00	0	G	NM_000754		19956088	19956088	+1	no_errors	ENST00000361682	ensembl	human	known	69_37n	silent	35	10.26	4	SNP	1.000	T
EPAS1	2034	genome.wustl.edu	37	2	46524981	46524981	+	5'UTR	SNP	G	G	A			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr2:46524981G>A	ENST00000263734.3	+	0	441				EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1						angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCGGACGAGGGCCACAGCCCC	0.706																																						dbGAP											0													29.0	36.0	34.0					2																	46524981		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.-70G>A	2.37:g.46524981G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VA2|Q99630	RNA	SNP	-	NULL	ENST00000263734.3	37	NULL	CCDS1825.1	2																																																																																			EPAS1	-	-	ENSG00000116016		0.706	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	45	0.00	0	G	NM_001430		46524981	46524981	+1	no_errors	ENST00000467888	ensembl	human	putative	69_37n	rna	32	13.51	5	SNP	0.243	A
EPB41	2035	genome.wustl.edu	37	1	29445598	29445598	+	3'UTR	SNP	A	A	G	rs9578	byFrequency	TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr1:29445598A>G	ENST00000343067.4	+	0	4996				EPB41_ENST00000373798.1_3'UTR|EPB41_ENST00000398863.2_3'UTR|EPB41_ENST00000356093.2_3'UTR|EPB41_ENST00000460378.1_3'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1						actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CGTTTCCCTCAGCTCTGTCAC	0.463													A|||	701	0.139976	0.0946	0.1599	5008	,	,		21038	0.0724		0.2714	False		,,,				2504	0.1217					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.*2274A>G	1.37:g.29445598A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	RNA	SNP	-	NULL	ENST00000343067.4	37	NULL	CCDS53288.1	1																																																																																			EPB41	-	-	ENSG00000159023		0.463	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	9	0.00	0	A	NM_203342		29445598	29445598	+1	no_errors	ENST00000460378	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	0.000	G
EXOC3L2	90332	genome.wustl.edu	37	19	45735069	45735069	+	Silent	SNP	G	G	A			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr19:45735069G>A	ENST00000252482.3	-	1	69	c.42C>T	c.(40-42)tcC>tcT	p.S14S	EXOC3L2_ENST00000413988.1_Silent_p.S14S			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	14					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GGGTGCCAGGGGAGAGAAGGG	0.592																																						dbGAP											0													51.0	48.0	49.0					19																	45735069		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.42C>T	19.37:g.45735069G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9W2|Q96GV2	Silent	SNP	pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C	p.S14	ENST00000252482.3	37	c.42	CCDS12657.1	19																																																																																			EXOC3L2	-	pfam_Sec6	ENSG00000130201		0.592	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L2	HGNC	protein_coding	OTTHUMT00000338073.1	53	0.00	0	G	NM_138568		45735069	45735069	-1	no_errors	ENST00000252482	ensembl	human	known	69_37n	silent	71	21.98	20	SNP	0.339	A
GABBR1	2550	genome.wustl.edu	37	6	29598304	29598304	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr6:29598304G>A	ENST00000377034.4	-	4	741	c.406C>T	c.(406-408)Cat>Tat	p.H136Y	GABBR1_ENST00000355973.3_5'Flank|GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000376977.3_Missense_Mutation_p.H136Y|GABBR1_ENST00000377012.4_5'Flank	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	136	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CCCACCAGATGGAAGTCGGGG	0.622																																						dbGAP											0													54.0	60.0	58.0					6																	29598304		1509	2709	4218	-	-	-	SO:0001583	missense	0			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.406C>T	6.37:g.29598304G>A	ENSP00000366233:p.His136Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.H136Y	ENST00000377034.4	37	c.406	CCDS4663.1	6	.	.	.	.	.	.	.	.	.	.	G	5.831	0.337501	0.11013	.	.	ENSG00000204681	ENST00000376977;ENST00000377034;ENST00000462632	T;T;T	0.63255	-0.03;-0.03;-0.03	4.73	4.73	0.59995	Complement control module (2);Sushi/SCR/CCP (3);	0.173029	0.36972	N	0.002315	T	0.22627	0.0546	N	0.11131	0.1	0.29571	N	0.849896	P;P	0.37176	0.531;0.586	B;B	0.32677	0.099;0.15	T	0.08994	-1.0695	10	0.27785	T	0.31	-35.3805	13.2298	0.59936	0.0:0.0:1.0:0.0	.	136;136	Q9UBS5-5;Q9UBS5	.;GABR1_HUMAN	Y	136	ENSP00000366176:H136Y;ENSP00000366233:H136Y;ENSP00000419755:H136Y	ENSP00000366176:H136Y	H	-	1	0	GABBR1	29706283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.680000	0.68168	2.189000	0.69895	0.561000	0.74099	CAT	GABBR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000204681		0.622	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	45	0.00	0	G			29598304	29598304	-1	no_errors	ENST00000377034	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	A
KIF20B	9585	genome.wustl.edu	37	10	91474824	91474824	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr10:91474824C>G	ENST00000371728.3	+	8	890	c.825C>G	c.(823-825)ttC>ttG	p.F275L	KIF20B_ENST00000394289.2_Missense_Mutation_p.F275L|KIF20B_ENST00000416354.1_Missense_Mutation_p.F275L|KIF20B_ENST00000260753.4_Missense_Mutation_p.F275L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	275	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGGTTTCTTTCTTTGAAATTT	0.318																																						dbGAP											0													47.0	52.0	50.0					10																	91474824		2198	4285	6483	-	-	-	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.825C>G	10.37:g.91474824C>G	ENSP00000360793:p.Phe275Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F275L	ENST00000371728.3	37	c.825		10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076779	0.76415	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.66	2.45	0.29901	Kinesin, motor domain (4);	0.000000	0.49916	D	0.000123	T	0.80127	0.4566	L	0.61387	1.9	0.58432	D	0.999997	D;P	0.76494	0.999;0.84	D;P	0.76071	0.987;0.75	T	0.78094	-0.2338	10	0.72032	D	0.01	-9.2621	5.2725	0.15632	0.0:0.4412:0.0:0.5588	.	275;275	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	L	275	ENSP00000260753:F275L;ENSP00000411545:F275L;ENSP00000377830:F275L;ENSP00000360793:F275L	ENSP00000260753:F275L	F	+	3	2	KIF20B	91464804	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.015000	0.29963	0.757000	0.33036	0.650000	0.86243	TTC	KIF20B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000138182		0.318	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	43	0.00	0	C	NM_016195		91474824	91474824	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	1.000	G
LMBRD1	55788	genome.wustl.edu	37	6	70500244	70500244	+	Silent	SNP	G	G	A			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr6:70500244G>A	ENST00000370577.3	-	2	419	c.190C>T	c.(190-192)Cta>Tta	p.L64L	LMBRD1_ENST00000370570.1_5'UTR	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	64					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TCCACTGGTAGAAGTGCTGAT	0.318																																						dbGAP											0													94.0	100.0	98.0					6																	70500244		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.190C>T	6.37:g.70500244G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	pfam_LMBR1-like_membr_prot	p.L64	ENST00000370577.3	37	c.190	CCDS4969.1	6																																																																																			LMBRD1	-	pfam_LMBR1-like_membr_prot	ENSG00000168216		0.318	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	56	0.00	0	G	NM_018368		70500244	70500244	-1	no_errors	ENST00000370577	ensembl	human	known	69_37n	silent	56	16.42	11	SNP	1.000	A
LRRC4B	94030	genome.wustl.edu	37	19	51021608	51021608	+	Silent	SNP	C	C	T			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr19:51021608C>T	ENST00000599957.1	-	3	1559	c.1362G>A	c.(1360-1362)tcG>tcA	p.S454S	LRRC4B_ENST00000389201.3_Silent_p.S454S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	454					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGTCCACGGCCGAGACGTTGA	0.692																																						dbGAP											0													35.0	39.0	38.0					19																	51021608		2078	4191	6269	-	-	-	SO:0001819	synonymous_variant	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1362G>A	19.37:g.51021608C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S454	ENST00000599957.1	37	c.1362	CCDS42595.1	19																																																																																			LRRC4B	-	smart_Ig_sub	ENSG00000131409		0.692	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	50	0.00	0	C	NM_001080457		51021608	51021608	-1	no_errors	ENST00000389201	ensembl	human	known	69_37n	silent	77	14.44	13	SNP	0.967	T
MYOF	26509	genome.wustl.edu	37	10	95088666	95088666	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr10:95088666G>C	ENST00000359263.4	-	45	4984	c.4985C>G	c.(4984-4986)tCt>tGt	p.S1662C	MYOF_ENST00000358334.5_Missense_Mutation_p.S1649C|MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000371501.4_Missense_Mutation_p.S1662C|MYOF_ENST00000371502.4_Missense_Mutation_p.S1681C	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1662					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTGACTCCAGAACTGTGAAT	0.493																																						dbGAP											0													253.0	238.0	243.0					10																	95088666		1965	4151	6116	-	-	-	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4985C>G	10.37:g.95088666G>C	ENSP00000352208:p.Ser1662Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.S1662C	ENST00000359263.4	37	c.4985	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529800	0.85706	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.84800	-1.89;-1.89;-1.89;-1.9	4.79	4.79	0.61399	C2 calcium/lipid-binding domain, CaLB (1);	0.165679	0.56097	D	0.000032	D	0.92984	0.7767	M	0.88640	2.97	0.80722	D	1	D;D	0.61080	0.989;0.984	D;P	0.63381	0.914;0.653	D	0.94332	0.7563	10	0.87932	D	0	-2.2198	18.0262	0.89270	0.0:0.0:1.0:0.0	.	1649;1662	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	C	1649;1662;1662;1681	ENSP00000351094:S1649C;ENSP00000352208:S1662C;ENSP00000360556:S1662C;ENSP00000360557:S1681C	ENSP00000351094:S1649C	S	-	2	0	MYOF	95078656	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.177000	0.94849	2.496000	0.84212	0.561000	0.74099	TCT	MYOF	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000138119		0.493	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	87	0.00	0	G	NM_013451		95088666	95088666	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	missense	89	18.35	20	SNP	1.000	C
NSL1	25936	genome.wustl.edu	37	1	212965024	212965024	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr1:212965024C>G	ENST00000366977.3	-	1	100	c.82G>C	c.(82-84)Gtc>Ctc	p.V28L	TATDN3_ENST00000530441.1_5'Flank|NSL1_ENST00000422588.2_Missense_Mutation_p.V28L|TATDN3_ENST00000532324.1_5'Flank|NSL1_ENST00000366978.1_5'Flank|TATDN3_ENST00000366974.4_5'Flank|NSL1_ENST00000473995.1_5'Flank|TATDN3_ENST00000531963.1_5'Flank|TATDN3_ENST00000526641.1_5'Flank|TATDN3_ENST00000526997.1_5'Flank|NSL1_ENST00000366976.1_Missense_Mutation_p.V28L|NSL1_ENST00000366975.6_Missense_Mutation_p.V28L|TATDN3_ENST00000366973.4_5'Flank	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	28					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GTGGCGGAGACCAAGGCCTGG	0.622																																						dbGAP											0													27.0	32.0	30.0					1																	212965024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.82G>C	1.37:g.212965024C>G	ENSP00000355944:p.Val28Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	pfam_Kinetochore_Mis14	p.V28L	ENST00000366977.3	37	c.82	CCDS1509.1	1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346087	0.24426	.	.	ENSG00000117697	ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	T;T;T;T	0.48522	1.49;0.81;1.5;0.89	4.17	2.19	0.27852	.	1.833780	0.02819	N	0.125385	T	0.40423	0.1116	L	0.46157	1.445	0.09310	N	1	B;B;P	0.34662	0.02;0.083;0.462	B;B;B	0.28553	0.011;0.027;0.091	T	0.25363	-1.0134	9	.	.	.	0.6398	6.8825	0.24181	0.2025:0.6019:0.1956:0.0	.	28;28;28	B4E071;Q96IY1;E7ETD5	.;NSL1_HUMAN;.	L	28	ENSP00000355944:V28L;ENSP00000388406:V28L;ENSP00000355942:V28L;ENSP00000355943:V28L	.	V	-	1	0	NSL1	211031647	0.044000	0.20184	0.002000	0.10522	0.002000	0.02628	3.228000	0.51270	0.643000	0.30638	-0.302000	0.09304	GTC	NSL1	-	NULL	ENSG00000117697		0.622	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSL1	HGNC	protein_coding	OTTHUMT00000089398.2	81	0.00	0	C	NM_015471		212965024	212965024	-1	no_errors	ENST00000366977	ensembl	human	known	69_37n	missense	91	16.51	18	SNP	0.005	G
NXF2	56001	genome.wustl.edu	37	X	101576790	101576790	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chrX:101576790C>T	ENST00000372758.1	+	20	2136	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	NXF2_ENST00000372763.1_Missense_Mutation_p.P341L|NXF2_ENST00000330252.5_Missense_Mutation_p.P429L|NXF2_ENST00000372757.1_Missense_Mutation_p.P429L|NXF2_ENST00000395088.2_Missense_Mutation_p.P429L|NXF2_ENST00000472029.1_3'UTR			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	429	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|lung(2)	4						CCCTTCGACCCCAAGGACTCA	0.587																																						dbGAP											0													73.0	72.0	73.0					X																	101576790		2002	3723	5725	-	-	-	SO:0001583	missense	0			AJ277526	CCDS14497.1	Xq22.1	2011-05-25			ENSG00000185554				8072	protein-coding gene	gene with protein product	"""cancer/testis antigen 39"", ""TAP like protein 2"""	300315				11073998, 11279525	Standard	NM_022053		Approved	CT39, TAPL-2	uc004eix.4	Q9GZY0		ENST00000372758.1:c.1286C>T	X.37:g.101576790C>T	ENSP00000361844:p.Pro429Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.P429L	ENST00000372758.1	37	c.1286	CCDS14497.1	X	.	.	.	.	.	.	.	.	.	.	.	8.783	0.928662	0.18131	.	.	ENSG00000185554	ENST00000395088;ENST00000330252;ENST00000372763;ENST00000372758;ENST00000372757	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	2.51	0.603	0.17541	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.698448	0.13546	N	0.379821	T	0.55289	0.1911	M	0.88842	2.985	0.09310	N	1	B;B	0.23937	0.094;0.087	B;B	0.36504	0.226;0.081	T	0.52283	-0.8596	10	0.10111	T	0.7	0.1418	4.8113	0.13345	0.0:0.6328:0.22:0.1472	.	341;429	Q5JRM6;Q9GZY0	.;NXF2_HUMAN	L	429;429;341;429;429	ENSP00000378523:P429L;ENSP00000331471:P429L;ENSP00000361849:P341L;ENSP00000361844:P429L;ENSP00000361843:P429L	ENSP00000331471:P429L	P	+	2	0	NXF2	101463446	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.682000	0.37628	0.045000	0.15804	-0.723000	0.03601	CCC	NXF2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000185554		0.587	NXF2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2	HGNC	protein_coding	OTTHUMT00000057618.1	82	0.00	0	C	NM_017809		101576790	101576790	+1	no_errors	ENST00000330252	ensembl	human	known	69_37n	missense	91	18.02	20	SNP	0.005	T
RDH8	50700	genome.wustl.edu	37	19	10124259	10124259	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr19:10124259C>T	ENST00000171214.1	+	1	335	c.86C>T	c.(85-87)cCc>cTc	p.P29L	RDH8_ENST00000591589.1_Missense_Mutation_p.P49L	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	29					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCCCATGACCCCAAGAAGCGC	0.612																																						dbGAP											0													81.0	75.0	77.0					19																	10124259		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.86C>T	19.37:g.10124259C>T	ENSP00000171214:p.Pro29Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H838	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.P49L	ENST00000171214.1	37	c.146		19	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601291	0.46423	.	.	ENSG00000080511	ENST00000171214	D	0.93076	-3.16	4.93	2.62	0.31277	NAD(P)-binding domain (1);	0.402385	0.24859	N	0.035021	D	0.89364	0.6694	N	0.14661	0.345	0.33045	D	0.532015	P	0.35575	0.51	P	0.46299	0.511	D	0.90942	0.4798	10	0.59425	D	0.04	.	11.1117	0.48237	0.3534:0.6466:0.0:0.0	.	29	Q9NYR8	RDH8_HUMAN	L	29	ENSP00000171214:P29L	ENSP00000171214:P29L	P	+	2	0	RDH8	9985259	0.000000	0.05858	0.886000	0.34754	0.512000	0.34134	0.303000	0.19210	1.027000	0.39758	0.591000	0.81541	CCC	RDH8	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_DHB_DH	ENSG00000080511		0.612	RDH8-201	KNOWN	basic|appris_principal	protein_coding	RDH8	HGNC	protein_coding		38	0.00	0	C			10124259	10124259	+1	no_errors	ENST00000591589	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	0.493	T
RUNX1	861	genome.wustl.edu	37	21	36164851	36164852	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr21:36164851_36164852insG	ENST00000344691.4	-	6	2519_2520	c.942_943insC	c.(940-945)tccatcfs	p.I315fs	RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.I342fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.I251fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.I342fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.I330fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	315	Interaction with KAT6A.|Interaction with KAT6B. {ECO:0000250}.|Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGGTCGGAGATGGAGGGCAGCG	0.688			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.943dupC	21.37:g.36164853_36164853dupG	ENSP00000340690:p.Ile315fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.I341fs	ENST00000344691.4	37	c.1024_1023	CCDS42922.1	21																																																																																			RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.688	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	16	0.00	0	-			36164851	36164852	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	frame_shift_ins	28	20.00	7	INS	1.000:1.000	G
STAMBP	10617	genome.wustl.edu	37	2	74072326	74072326	+	Missense_Mutation	SNP	A	A	C			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr2:74072326A>C	ENST00000394070.2	+	4	815	c.312A>C	c.(310-312)gaA>gaC	p.E104D	STAMBP_ENST00000536064.1_Missense_Mutation_p.E104D|STAMBP_ENST00000394073.1_Missense_Mutation_p.E104D|STAMBP_ENST00000409707.1_Missense_Mutation_p.E104D|STAMBP_ENST00000339566.3_Missense_Mutation_p.E104D	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	104	Glu-rich.|Interaction with CHMP3.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CCAAAGCAGAAGAGCTGAAGG	0.313																																						dbGAP											0													61.0	62.0	62.0					2																	74072326		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.312A>C	2.37:g.74072326A>C	ENSP00000377633:p.Glu104Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.E104D	ENST00000394070.2	37	c.312	CCDS1929.1	2	.	.	.	.	.	.	.	.	.	.	A	11.91	1.781047	0.31502	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.61158	1.62;1.62;1.58;1.62;1.62;0.13	5.52	3.12	0.35913	.	0.100579	0.64402	D	0.000002	T	0.48502	0.1503	L	0.53561	1.675	0.58432	D	0.999999	B	0.12630	0.006	B	0.19148	0.024	T	0.43798	-0.9369	10	0.36615	T	0.2	-10.8265	7.942	0.29963	0.7686:0.0:0.2314:0.0	.	104	O95630	STABP_HUMAN	D	104	ENSP00000344742:E104D;ENSP00000386548:E104D;ENSP00000413874:E104D;ENSP00000377636:E104D;ENSP00000377633:E104D;ENSP00000443502:E104D	ENSP00000344742:E104D	E	+	3	2	STAMBP	73925834	0.996000	0.38824	1.000000	0.80357	0.981000	0.71138	0.556000	0.23438	1.119000	0.41883	-0.256000	0.11100	GAA	STAMBP	-	NULL	ENSG00000124356		0.313	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBP	HGNC	protein_coding	OTTHUMT00000252048.2	63	0.00	0	A	NM_006463		74072326	74072326	+1	no_errors	ENST00000339566	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	1.000	C
TDRD9	122402	genome.wustl.edu	37	14	104470647	104470647	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr14:104470647C>G	ENST00000409874.4	+	14	1604	c.1556C>G	c.(1555-1557)cCt>cGt	p.P519R	TDRD9_ENST00000339063.5_Missense_Mutation_p.P519R	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	519	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AACTCCATCCCTGATCATGTT	0.393																																						dbGAP											0													128.0	100.0	109.0					14																	104470647		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1556C>G	14.37:g.104470647C>G	ENSP00000387303:p.Pro519Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P519R	ENST00000409874.4	37	c.1556	CCDS9987.2	14	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491913	0.44352	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.02656	4.21;4.21	5.87	4.98	0.66077	Helicase, C-terminal (1);	0.092524	0.46442	D	0.000295	T	0.05090	0.0136	L	0.43757	1.38	0.80722	D	1	P;B	0.37914	0.611;0.113	B;B	0.40901	0.343;0.067	T	0.36359	-0.9751	10	0.87932	D	0	.	14.7436	0.69474	0.0:0.9311:0.0:0.0689	.	519;519	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	R	519	ENSP00000387303:P519R;ENSP00000343545:P519R	ENSP00000343545:P519R	P	+	2	0	TDRD9	103540400	0.996000	0.38824	0.807000	0.32361	0.997000	0.91878	3.379000	0.52440	1.491000	0.48482	0.655000	0.94253	CCT	TDRD9	-	pfscan_Helicase_C	ENSG00000156414		0.393	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	HGNC	protein_coding	OTTHUMT00000328325.3	98	0.00	0	C	NM_153046		104470647	104470647	+1	no_errors	ENST00000409874	ensembl	human	known	69_37n	missense	91	13.33	14	SNP	0.966	G
UBA5	79876	genome.wustl.edu	37	3	132389818	132389818	+	Silent	SNP	G	G	C			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr3:132389818G>C	ENST00000356232.4	+	6	1576	c.504G>C	c.(502-504)ggG>ggC	p.G168G	UBA5_ENST00000264991.4_Silent_p.G112G|UBA5_ENST00000473651.1_Silent_p.G168G|UBA5_ENST00000494238.2_Silent_p.G112G|UBA5_ENST00000493720.2_Silent_p.G168G	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	168					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTAATGGTGGGTTAGAAGAAG	0.338																																						dbGAP											0													180.0	179.0	179.0					3																	132389818		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.504G>C	3.37:g.132389818G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJL3|D3DNC8|Q96ST1	Silent	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.G168	ENST00000356232.4	37	c.504	CCDS3076.1	3																																																																																			UBA5	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000081307		0.338	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA5	HGNC	protein_coding	OTTHUMT00000357187.2	68	0.00	0	G	NM_024818		132389818	132389818	+1	no_errors	ENST00000356232	ensembl	human	known	69_37n	silent	55	15.38	10	SNP	0.298	C
USP12	219333	genome.wustl.edu	37	13	27664065	27664065	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr13:27664065T>C	ENST00000282344.6	-	6	945	c.689A>G	c.(688-690)aAg>aGg	p.K230R		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	230	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		ACAGTAATACTTGTATTCACT	0.318																																					Ovarian(37;808 911 7590 44442 44991)	dbGAP											0													63.0	62.0	62.0					13																	27664065		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.689A>G	13.37:g.27664065T>C	ENSP00000282344:p.Lys230Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.K230R	ENST00000282344.6	37	c.689	CCDS31952.1	13	.	.	.	.	.	.	.	.	.	.	T	26.9	4.781251	0.90282	.	.	ENSG00000152484	ENST00000282344	T	0.06218	3.33	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.043737	0.85682	D	0.000000	T	0.29355	0.0731	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07868	-1.0750	10	0.87932	D	0	-25.1089	15.4004	0.74834	0.0:0.0:0.0:1.0	.	230	O75317	UBP12_HUMAN	R	230	ENSP00000282344:K230R	ENSP00000282344:K230R	K	-	2	0	USP12	26562065	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.565000	0.82337	2.113000	0.64589	0.482000	0.46254	AAG	USP12	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000152484		0.318	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP12	HGNC	protein_coding	OTTHUMT00000044264.1	17	0.00	0	T	NM_182488		27664065	27664065	-1	no_errors	ENST00000282344	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	C
ZNF532	55205	genome.wustl.edu	37	18	56587855	56587855	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A3X8-01A-31D-A22X-09	TCGA-E9-A3X8-10B-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	66af5537-ae26-4931-826c-1a1e1366a61c	504c075a-6994-4a8e-8e61-503d82e241ea	g.chr18:56587855C>T	ENST00000336078.4	+	4	3112	c.2336C>T	c.(2335-2337)aCg>aTg	p.T779M	ZNF532_ENST00000591808.1_Missense_Mutation_p.T779M|ZNF532_ENST00000591230.1_Missense_Mutation_p.T779M|ZNF532_ENST00000591083.1_Missense_Mutation_p.T779M|ZNF532_ENST00000589288.1_Missense_Mutation_p.T779M	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCTGCAGATACGAGTGGACAA	0.428																																						dbGAP											0													67.0	64.0	65.0					18																	56587855		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2336C>T	18.37:g.56587855C>T	ENSP00000338217:p.Thr779Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T779M	ENST00000336078.4	37	c.2336	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	c	19.27	3.795562	0.70452	.	.	ENSG00000074657	ENST00000336078	T	0.28454	1.61	5.68	5.68	0.88126	Zinc finger, C2H2 (1);	0.202090	0.53938	N	0.000052	T	0.32285	0.0824	N	0.19112	0.55	0.42947	D	0.994363	D	0.62365	0.991	P	0.49528	0.614	T	0.10567	-1.0624	10	0.66056	D	0.02	-2.3844	19.5009	0.95093	0.0:1.0:0.0:0.0	.	779	Q9HCE3	ZN532_HUMAN	M	779	ENSP00000338217:T779M	ENSP00000338217:T779M	T	+	2	0	ZNF532	54738835	0.988000	0.35896	0.993000	0.49108	0.987000	0.75469	5.466000	0.66731	2.704000	0.92352	0.639000	0.83563	ACG	ZNF532	-	pfscan_Znf_C2H2	ENSG00000074657		0.428	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	43	0.00	0	C	NM_018181		56587855	56587855	+1	no_errors	ENST00000336078	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	0.998	T
