#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
ADNP	23394	genome.wustl.edu	37	20	49509507	49509508	+	Frame_Shift_Ins	INS	-	-	GTAA			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr20:49509507_49509508insGTAA	ENST00000396029.3	-	5	2310_2311	c.1743_1744insTTAC	c.(1741-1746)taccatfs	p.H582fs	ADNP_ENST00000371602.4_Frame_Shift_Ins_p.H582fs|ADNP_ENST00000396032.3_Frame_Shift_Ins_p.H582fs|ADNP_ENST00000349014.3_Frame_Shift_Ins_p.H582fs	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	582					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTTTGGGCATGGTAAGCAACAG	0.46																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1740_1743dupTTAC	20.37:g.49509508_49509511dupGTAA	ENSP00000379346:p.His582fs		E1P5Y2|O94881|Q5BKU2|Q9UG34	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.H581fs	ENST00000396029.3	37	c.1744_1743	CCDS13433.1	20																																																																																			ADNP	-	NULL	ENSG00000101126		0.460	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	83	0.00	0	-	NM_181442		49509507	49509508	-1	no_errors	ENST00000349014	ensembl	human	known	69_37n	frame_shift_ins	49	28.99	20	INS	1.000:0.989	GTAA
ASIC1	41	genome.wustl.edu	37	12	50474963	50474964	+	Splice_Site	INS	-	-	T			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr12:50474963_50474964insT	ENST00000447966.2	+	10	1605_1606	c.1376_1377insT	c.(1375-1380)gaggtc>gaTggtc	p.EV459fs	ASIC1_ENST00000228468.4_Splice_Site_p.EV505fs|ASIC1_ENST00000552438.1_Splice_Site_p.EV493fs	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	459					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TACGCCTACGAGGTAAGCGGGG	0.708																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1377+1->T	12.37:g.50474963_50474964insT			A3KN86|E5KBL7|P78349|Q96CV2	Frame_Shift_Ins	INS	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.E505fs	ENST00000447966.2	37	c.1514_1515	CCDS44876.1	12																																																																																			ASIC1	-	NULL	ENSG00000110881		0.708	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	12	0.00	0	-	NM_020039	Frame_Shift_Ins	50474963	50474964	+1	no_errors	ENST00000228468	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	1.000:1.000	T
BCL9L	283149	genome.wustl.edu	37	11	118779066	118779066	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr11:118779066C>T	ENST00000334801.3	-	2	1289	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	BCL9L_ENST00000526143.1_5'UTR|MIR4492_ENST00000581627.1_RNA	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	109					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TTCACCTTGCCCTTGAGCGAG	0.622																																						dbGAP											0													76.0	70.0	72.0					11																	118779066		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.325G>A	11.37:g.118779066C>T	ENSP00000335320:p.Gly109Ser		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.G109S	ENST00000334801.3	37	c.325	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185509	0.57909	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085;ENST00000532899	T;T	0.61859	0.07;0.07	5.62	5.62	0.85841	.	0.000000	0.52532	D	0.000079	T	0.66733	0.2819	L	0.46157	1.445	0.35858	D	0.827311	D;D	0.65815	0.995;0.991	P;P	0.56088	0.791;0.622	T	0.70182	-0.4942	10	0.40728	T	0.16	-13.2764	19.6415	0.95760	0.0:1.0:0.0:0.0	.	104;109	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	109;72;109;109;109	ENSP00000335320:G109S;ENSP00000432804:G109S	ENSP00000335320:G109S	G	-	1	0	BCL9L	118284276	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.802000	0.69122	2.651000	0.90000	0.561000	0.74099	GGC	BCL9L	-	NULL	ENSG00000186174		0.622	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	31	0.00	0	C	NM_182557		118779066	118779066	-1	no_errors	ENST00000334801	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	1.000	T
SLC35F6	54978	genome.wustl.edu	37	2	26997949	26997949	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr2:26997949C>T	ENST00000344420.5	+	3	250	c.188C>T	c.(187-189)gCt>gTt	p.A63V	SLC35F6_ENST00000482746.1_Intron|SLC35F6_ENST00000416475.2_Intron|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	63					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											TCCTGCCTGGCTGCCTTCTAC	0.577																																						dbGAP											0													69.0	64.0	65.0					2																	26997949		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.188C>T	2.37:g.26997949C>T	ENSP00000345528:p.Ala63Val		D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	pfam_DUF914_euk,pfam_Nuc_sug_transpt,pfam_DMT,pfam_DUF250,pfam_UAA,pirsf_UCP036436	p.A63V	ENST00000344420.5	37	c.188	CCDS1728.1	2	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425714	0.25639	.	.	ENSG00000213699	ENST00000344420	.	.	.	5.2	4.31	0.51392	.	0.215605	0.47852	D	0.000203	T	0.35422	0.0931	N	0.13327	0.33	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16660	-1.0395	9	0.08837	T	0.75	.	11.9092	0.52729	0.0:0.9153:0.0:0.0847	.	63	Q8N357	CB018_HUMAN	V	63	.	ENSP00000345528:A63V	A	+	2	0	C2orf18	26851453	0.216000	0.23585	1.000000	0.80357	0.999000	0.98932	0.573000	0.23699	2.424000	0.82194	0.655000	0.94253	GCT	C2orf18	-	pirsf_UCP036436	ENSG00000213699		0.577	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf18	HGNC	protein_coding	OTTHUMT00000250187.2	37	0.00	0	C	NM_017877		26997949	26997949	+1	no_errors	ENST00000344420	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	0.999	T
CARNS1	57571	genome.wustl.edu	37	11	67186488	67186488	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr11:67186488T>C	ENST00000307823.3	+	4	709	c.257T>C	c.(256-258)cTg>cCg	p.L86P	CARNS1_ENST00000423745.2_Missense_Mutation_p.L86P|CARNS1_ENST00000445895.2_Missense_Mutation_p.L209P|CARNS1_ENST00000531040.1_Missense_Mutation_p.L209P	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	86					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CTGGCCCGGCTGCTGGAGGAC	0.701																																						dbGAP											0													5.0	7.0	7.0					11																	67186488		2023	4117	6140	-	-	-	SO:0001583	missense	0				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.257T>C	11.37:g.67186488T>C	ENSP00000308268:p.Leu86Pro		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp	p.L209P	ENST00000307823.3	37	c.626	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587185	0.66105	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000539452;ENST00000423745;ENST00000445895	T;T;T;T	0.34472	1.36;1.39;1.39;1.4	4.06	4.06	0.47325	.	.	.	.	.	T	0.40743	0.1129	N	0.19112	0.55	0.58432	D	0.999996	D;D;D	0.64830	0.994;0.978;0.994	P;P;P	0.62740	0.906;0.694;0.906	T	0.39482	-0.9612	9	0.66056	D	0.02	.	12.1453	0.54020	0.0:0.0:0.0:1.0	.	209;86;225	F5H427;A5YM72;A5YM72-3	.;CRNS1_HUMAN;.	P	209;86;209;225;86;209	ENSP00000431670:L209P;ENSP00000308268:L86P;ENSP00000401519:L86P;ENSP00000389009:L209P	ENSP00000308268:L86P	L	+	2	0	CARNS1	66943064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.840000	0.48215	1.707000	0.51288	0.459000	0.35465	CTG	CARNS1	-	NULL	ENSG00000172508		0.701	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	11	0.00	0	T	NM_020811		67186488	67186488	+1	no_errors	ENST00000445895	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	1.000	C
CASZ1	54897	genome.wustl.edu	37	1	10714015	10714015	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr1:10714015G>A	ENST00000377022.3	-	11	2416	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	CASZ1_ENST00000344008.5_Missense_Mutation_p.S700L|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	700					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGCGCGCCCGAGGAGCGGAT	0.672																																						dbGAP											0													46.0	49.0	48.0					1																	10714015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2099C>T	1.37:g.10714015G>A	ENSP00000366221:p.Ser700Leu		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S700L	ENST00000377022.3	37	c.2099	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796732	0.90453	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.84	4.84	0.62591	.	0.239068	0.43579	D	0.000543	T	0.74831	0.3768	L	0.47716	1.5	0.58432	D	0.999993	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.77557	0.99;0.986;0.988	T	0.77059	-0.2728	9	0.72032	D	0.01	-13.5041	18.842	0.92188	0.0:0.0:1.0:0.0	.	724;700;700	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	L	700	.	ENSP00000339445:S700L	S	-	2	0	CASZ1	10636602	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	7.480000	0.81109	2.619000	0.88677	0.561000	0.74099	TCG	CASZ1	-	NULL	ENSG00000130940		0.672	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	16	0.00	0	G	NM_017766		10714015	10714015	-1	no_errors	ENST00000377022	ensembl	human	known	69_37n	missense	22	42.11	16	SNP	1.000	A
CDH8	1006	genome.wustl.edu	37	16	62055218	62055218	+	Silent	SNP	A	A	G			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr16:62055218A>G	ENST00000577390.1	-	2	1044	c.90T>C	c.(88-90)gcT>gcC	p.A30A	CDH8_ENST00000584337.1_Silent_p.A30A|CDH8_ENST00000299345.6_Silent_p.A30A|CDH8_ENST00000577730.1_Silent_p.A30A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	30					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATTCATCGGAGCCATGTAAA	0.463																																						dbGAP											0													77.0	78.0	78.0					16																	62055218		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.90T>C	16.37:g.62055218A>G			B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A30	ENST00000577390.1	37	c.90	CCDS10802.1	16																																																																																			CDH8	-	NULL	ENSG00000150394		0.463	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	63	0.00	0	A	NM_001796		62055218	62055218	-1	no_errors	ENST00000577390	ensembl	human	known	69_37n	silent	8	80.95	34	SNP	1.000	G
CBFB	865	genome.wustl.edu	37	16	67100608	67100608	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr16:67100608T>G	ENST00000290858.6	+	4	567	c.306T>G	c.(304-306)atT>atG	p.I102M	CBFB_ENST00000412916.2_Missense_Mutation_p.I102M|CBFB_ENST00000561924.2_Missense_Mutation_p.I2M	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	102					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		CTCCCATGATTCTGAATGGAG	0.393			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0													150.0	135.0	140.0					16																	67100608		2200	4300	6500	-	-	-	SO:0001583	missense	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.306T>G	16.37:g.67100608T>G	ENSP00000290858:p.Ile102Met		A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.I102M	ENST00000290858.6	37	c.306	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	T	11.74	1.727946	0.30593	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.59	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.78104	0.4231	M	0.80332	2.49	0.80722	D	1	P;P	0.49447	0.924;0.823	D;D	0.73380	0.98;0.974	T	0.80612	-0.1305	9	0.87932	D	0	-10.4475	10.8132	0.46559	0.0:0.0765:0.0:0.9235	.	102;102	Q13951-2;Q13951	.;PEBB_HUMAN	M	102	.	ENSP00000290858:I102M	I	+	3	3	CBFB	65658109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.360000	0.44151	2.140000	0.66376	0.459000	0.35465	ATT	CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.393	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	131	0.76	1	T	NM_001755		67100608	67100608	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	missense	20	75.00	60	SNP	1.000	G
CERS1	10715	genome.wustl.edu	37	19	18994907	18994907	+	Silent	SNP	G	G	A			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr19:18994907G>A	ENST00000427170.2	-	3	650	c.579C>T	c.(577-579)tcC>tcT	p.S193S	AC005197.2_ENST00000597769.1_RNA|CERS1_ENST00000542296.2_Silent_p.S95S|CERS1_ENST00000429504.2_Silent_p.S193S|GDF1_ENST00000247005.6_5'UTR	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	193	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular response to dithiothreitol (GO:0072721)|cellular response to drug (GO:0035690)|cellular response to mycotoxin (GO:0036146)|cellular response to UV-A (GO:0071492)|ceramide biosynthetic process (GO:0046513)|negative regulation of telomerase activity (GO:0051974)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	sphingosine N-acyltransferase activity (GO:0050291)			endometrium(3)|lung(2)	5						GGAAGGCGTAGGAGGAGACGA	0.632																																						dbGAP											0													59.0	70.0	66.0					19																	18994907		2174	4288	6462	-	-	-	SO:0001819	synonymous_variant	0			AF105005	CCDS46021.1	19p12	2011-07-08	2011-07-08	2011-07-08		ENSG00000223802			14253	protein-coding gene	gene with protein product		606919	"""longevity assurance (LAG1, S. cerevisiae) homolog 1"", ""LAG1 longevity assurance homolog 1 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 1"""	LASS1		9872981, 2034669	Standard	NM_198207		Approved	LAG1, UOG1	uc002nkj.3	P27544		ENST00000427170.2:c.579C>T	19.37:g.18994907G>A				Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom	p.S193	ENST00000427170.2	37	c.579	CCDS46020.1	19																																																																																			CERS1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom	ENSG00000223802		0.632	CERS1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERS1	HGNC	protein_coding		26	0.00	0	G			18994907	18994907	-1	no_errors	ENST00000427170	ensembl	human	known	69_37n	silent	20	31.03	9	SNP	1.000	A
CROCCP2	84809	genome.wustl.edu	37	1	16950807	16950807	+	lincRNA	SNP	C	C	T	rs11590427	byFrequency	TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr1:16950807C>T	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCTGCCTTCACGCTCCGCAGG	0.692													.|||	1027	0.205072	0.2587	0.1196	5008	,	,		59386	0.2748		0.162	False		,,,				2504	0.1656					dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950807C>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.692	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	8	0.00	0	C	NR_026752.1		16950807	16950807	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	15	21.05	4	SNP	0.483	T
DMD	1756	genome.wustl.edu	37	X	31200940	31200940	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chrX:31200940C>T	ENST00000357033.4	-	68	10095	c.9889G>A	c.(9889-9891)Gtc>Atc	p.V3297I	DMD_ENST00000474231.1_Missense_Mutation_p.V837I|DMD_ENST00000359836.1_Missense_Mutation_p.V837I|DMD_ENST00000361471.4_Missense_Mutation_p.V229I|DMD_ENST00000378702.4_Missense_Mutation_p.V229I|DMD_ENST00000378677.2_Missense_Mutation_p.V3293I|DMD_ENST00000378680.2_Missense_Mutation_p.V229I|DMD_ENST00000378707.3_Missense_Mutation_p.V837I|DMD_ENST00000343523.2_Missense_Mutation_p.V837I|DMD_ENST00000378723.3_Missense_Mutation_p.V229I|DMD_ENST00000541735.1_Missense_Mutation_p.V837I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3297	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGTGCAGGACGGGCAGCCAC	0.512																																						dbGAP											0													86.0	71.0	76.0					X																	31200940		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9889G>A	X.37:g.31200940C>T	ENSP00000354923:p.Val3297Ile		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.V3297I	ENST00000357033.4	37	c.9889	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.413763|4.413763	0.83449|0.83449	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.73681	.|-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.41|5.41	5.41|5.41	0.78517|0.78517	.|EF-hand domain, type 2 (1);	.|0.000000	.|0.33477	.|U	.|0.004867	D|D	0.89753|0.89753	0.6806|0.6806	M|M	0.92317|0.92317	3.295|3.295	0.80722|0.80722	D|D	1|1	.|P;P;D;D;D;D;D;D;D;D;D;B;P;D;P;D	.|0.89917	.|0.871;0.914;0.995;0.995;0.995;0.995;0.994;0.986;0.986;0.996;0.995;0.15;0.843;1.0;0.943;0.987	.|D;D;D;D;D;D;D;D;D;D;D;B;P;D;P;D	.|0.91635	.|0.914;0.916;0.992;0.992;0.992;0.992;0.988;0.962;0.945;0.993;0.988;0.332;0.902;0.999;0.901;0.984	D|D	0.92051|0.92051	0.5648|0.5648	5|10	.|0.87932	.|D	.|0	.|.	18.2593|18.2593	0.90030|0.90030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|229;3289;3297;3293;1956;1953;837;837;837;837;837;3174;229;229;229;229	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	H|I	1025|3289;1956;1953;229;993;3293;3297;837;837;3297;3174;837;837;229;837;229;229;87	.|ENSP00000367997:V229I;ENSP00000350765:V993I;ENSP00000367948:V3293I;ENSP00000354923:V3297I;ENSP00000352894:V837I;ENSP00000340057:V837I;ENSP00000367979:V837I;ENSP00000444119:V837I;ENSP00000367974:V229I;ENSP00000417123:V837I;ENSP00000354464:V229I;ENSP00000367951:V229I;ENSP00000367977:V87I	.|ENSP00000340057:V837I	R|V	-|-	2|1	0|0	DMD|DMD	31110861|31110861	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.997000|0.997000	0.91878|0.91878	7.601000|7.601000	0.82783|0.82783	2.506000|2.506000	0.84524|0.84524	0.600000|0.600000	0.82982|0.82982	CGT|GTC	DMD	-	pfam_EF-hand_dom_typ2,pirsf_Dystrophin/utrophin	ENSG00000198947		0.512	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	54	0.00	0	C	NM_004006		31200940	31200940	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	35	30.00	15	SNP	1.000	T
EML3	256364	genome.wustl.edu	37	11	62378386	62378386	+	Silent	SNP	G	G	A			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr11:62378386G>A	ENST00000394773.2	-	4	838	c.531C>T	c.(529-531)tcC>tcT	p.S177S	EML3_ENST00000531557.1_5'UTR|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000494176.2_Silent_p.S149S|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000529309.1_Silent_p.S177S|EML3_ENST00000278845.4_Silent_p.S178S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	177						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACAGGTTGGCGGAGGAGATTG	0.627																																						dbGAP											0													42.0	45.0	44.0					11																	62378386		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.531C>T	11.37:g.62378386G>A			Q6ZQW7|Q8NA55	Missense_Mutation	SNP	NULL	p.R136C	ENST00000394773.2	37	c.406	CCDS8023.2	11	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575081	0.28092	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.08	-10.2	0.00374	.	.	.	.	.	T	0.31765	0.0807	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-10.5769	0.8297	0.01128	0.2568:0.1568:0.1705:0.4159	.	.	.	.	C	172	.	.	R	-	1	0	EML3	62134962	0.000000	0.05858	0.185000	0.23176	0.482000	0.33219	-7.535000	0.00034	-3.005000	0.00274	0.313000	0.20887	CGC	EML3	-	NULL	ENSG00000149499		0.627	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	25	0.00	0	G	NM_153265		62378386	62378386	-1	no_errors	ENST00000494448	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.252	A
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA				RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	30	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	34	20.93	9	INS	0.033:0.036	GCA
FOXA1	3169	genome.wustl.edu	37	14	38061213	38061213	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr14:38061213T>G	ENST00000250448.2	-	2	837	c.776A>C	c.(775-777)tAc>tCc	p.Y259S	FOXA1_ENST00000540786.1_Missense_Mutation_p.Y226S|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	259					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GCGGCGCAAGTAGCAGCCGTT	0.711																																						dbGAP											0													18.0	18.0	18.0					14																	38061213		2203	4299	6502	-	-	-	SO:0001583	missense	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.776A>C	14.37:g.38061213T>G	ENSP00000250448:p.Tyr259Ser		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Y259S	ENST00000250448.2	37	c.776	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342340	0.81911	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95447	-3.71;-3.71	3.92	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	D	0.96454	0.8843	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96576	0.9427	10	0.87932	D	0	.	11.8486	0.52399	0.0:0.0:0.0:1.0	.	259	P55317	FOXA1_HUMAN	S	259;226	ENSP00000250448:Y259S;ENSP00000440178:Y226S	ENSP00000250448:Y259S	Y	-	2	0	FOXA1	37130964	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.844000	0.62846	1.648000	0.50643	0.329000	0.21502	TAC	FOXA1	-	pfam_TF_fork_head,pfscan_TF_fork_head	ENSG00000129514		0.711	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	8	0.00	0	T			38061213	38061213	-1	no_errors	ENST00000250448	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	G
GON4L	54856	genome.wustl.edu	37	1	155734834	155734834	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr1:155734834G>A	ENST00000368331.1	-	21	4478	c.4430C>T	c.(4429-4431)tCa>tTa	p.S1477L	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.S1477L|GON4L_ENST00000437809.1_Missense_Mutation_p.S1477L|GON4L_ENST00000271883.5_Missense_Mutation_p.S1477L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1477	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGAAGCTGATGACATTTCATC	0.453																																						dbGAP											0													87.0	81.0	83.0					1																	155734834		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4430C>T	1.37:g.155734834G>A	ENSP00000357315:p.Ser1477Leu		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.S1477L	ENST00000368331.1	37	c.4430		1	.	.	.	.	.	.	.	.	.	.	G	33	5.230554	0.95207	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.30981	1.84;1.84;1.84;1.51	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	L	0.59436	1.845	0.58432	D	0.999991	D;D;P;P	0.89917	1.0;0.993;0.792;0.868	D;D;B;B	0.87578	0.998;0.977;0.255;0.439	T	0.45308	-0.9270	10	0.72032	D	0.01	.	18.228	0.89924	0.0:0.0:1.0:0.0	.	1477;673;1477;1477	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	L	1477	ENSP00000396117:S1477L;ENSP00000357315:S1477L;ENSP00000271883:S1477L;ENSP00000354322:S1477L	ENSP00000271883:S1477L	S	-	2	0	GON4L	154001458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.074000	0.93998	2.630000	0.89119	0.650000	0.86243	TCA	GON4L	-	NULL	ENSG00000116580		0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		57	0.00	0	G	NM_032292		155734834	155734834	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	61	21.79	17	SNP	1.000	A
IKZF3	22806	genome.wustl.edu	37	17	37988354	37988354	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr17:37988354C>A	ENST00000346872.3	-	2	119	c.58G>T	c.(58-60)Gca>Tca	p.A20S	IKZF3_ENST00000377952.2_Missense_Mutation_p.A20S|IKZF3_ENST00000350532.3_Missense_Mutation_p.A20S|IKZF3_ENST00000346243.3_Missense_Mutation_p.A20S|IKZF3_ENST00000535189.1_Missense_Mutation_p.A20S|IKZF3_ENST00000377944.3_Missense_Mutation_p.A20S|IKZF3_ENST00000467757.1_Missense_Mutation_p.A20S|IKZF3_ENST00000394189.2_Missense_Mutation_p.A20S|IKZF3_ENST00000351680.3_Missense_Mutation_p.A20S|IKZF3_ENST00000439016.2_Missense_Mutation_p.A20S|IKZF3_ENST00000377945.3_Missense_Mutation_p.A20S|IKZF3_ENST00000377958.2_Missense_Mutation_p.A20S|IKZF3_ENST00000439167.2_Missense_Mutation_p.A20S	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	20					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGTTACCTGCGGGCACAGAC	0.368																																						dbGAP											0													116.0	114.0	115.0					17																	37988354		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.58G>T	17.37:g.37988354C>A	ENSP00000344544:p.Ala20Ser		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A20S	ENST00000346872.3	37	c.58	CCDS11346.1	17	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222242	0.39300	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T;T	0.08720	3.37;3.45;3.38;3.21;3.06;3.59;3.32;3.33;3.38;3.3;4.37	5.34	1.93	0.25924	.	0.293891	0.24054	N	0.041977	T	0.07007	0.0178	L	0.27053	0.805	0.22666	N	0.998878	B;B;B;B;B;B;B;B;B;B;B;B;B	0.32160	0.358;0.009;0.009;0.009;0.009;0.066;0.247;0.1;0.248;0.156;0.156;0.029;0.097	B;B;B;B;B;B;B;B;B;B;B;B;B	0.41135	0.257;0.017;0.025;0.025;0.013;0.07;0.128;0.082;0.348;0.222;0.222;0.027;0.111	T	0.39921	-0.9590	10	0.20046	T	0.44	.	6.5223	0.22283	0.0:0.2836:0.0:0.7164	.	20;20;20;20;20;20;20;20;20;20;20;20;20	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	S	20	ENSP00000344544:A20S;ENSP00000367180:A20S;ENSP00000377741:A20S;ENSP00000367179:A20S;ENSP00000367194:A20S;ENSP00000367188:A20S;ENSP00000438972:A20S;ENSP00000345622:A20S;ENSP00000341977:A20S;ENSP00000344471:A20S;ENSP00000420463:A20S	ENSP00000341977:A20S	A	-	1	0	IKZF3	35241880	0.983000	0.35010	1.000000	0.80357	0.682000	0.39822	-0.131000	0.10482	0.342000	0.23796	-1.264000	0.01445	GCA	IKZF3	-	NULL	ENSG00000161405		0.368	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF3	HGNC	protein_coding	OTTHUMT00000257004.2	94	0.00	0	C	NM_012481		37988354	37988354	-1	no_errors	ENST00000346872	ensembl	human	known	69_37n	missense	60	39.60	40	SNP	1.000	A
INO80	54617	genome.wustl.edu	37	15	41388029	41388029	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr15:41388029G>A	ENST00000361937.3	-	3	665	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F	INO80_ENST00000401393.3_Missense_Mutation_p.L81F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	81	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTTTCACCAAGCAATGAATTT	0.443																																						dbGAP											0													71.0	73.0	72.0					15																	41388029		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.241C>T	15.37:g.41388029G>A	ENSP00000355205:p.Leu81Phe		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L81F	ENST00000361937.3	37	c.241	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949368	0.73787	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91295	-2.82;-2.82	6.08	6.08	0.98989	.	0.251854	0.34853	N	0.003622	D	0.89636	0.6772	N	0.22421	0.69	0.46774	D	0.999191	D	0.61697	0.99	P	0.51657	0.676	D	0.88851	0.3319	10	0.41790	T	0.15	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	81	Q9ULG1	INO80_HUMAN	F	81	ENSP00000355205:L81F;ENSP00000384686:L81F	ENSP00000355205:L81F	L	-	1	0	INO80	39175321	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.359000	0.66074	2.894000	0.99253	0.591000	0.81541	CTT	INO80	-	NULL	ENSG00000128908		0.443	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	59	0.00	0	G	NM_017553		41388029	41388029	-1	no_errors	ENST00000361937	ensembl	human	known	69_37n	missense	32	31.91	15	SNP	1.000	A
KCNQ5	56479	genome.wustl.edu	37	6	73787578	73787578	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr6:73787578T>C	ENST00000370398.1	+	5	995	c.886T>C	c.(886-888)Tct>Cct	p.S296P	KCNQ5_ENST00000355194.4_Missense_Mutation_p.S296P|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S296P|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S296P|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S296P|KCNQ5_ENST00000342056.2_Missense_Mutation_p.S296P|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S296P|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S296P	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	296					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TAAAGAGTTTTCTACATATGC	0.318																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													119.0	104.0	109.0					6																	73787578		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.886T>C	6.37:g.73787578T>C	ENSP00000359425:p.Ser296Pro		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.S296P	ENST00000370398.1	37	c.886	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820747	0.32145	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	5.86	5.86	0.93980	Ion transport (1);	0.056119	0.64402	D	0.000001	D	0.90903	0.7141	L	0.28192	0.835	0.38820	D	0.955618	B;B;B;B;B;B	0.33413	0.411;0.048;0.289;0.102;0.036;0.007	B;B;B;B;B;B	0.34138	0.176;0.021;0.112;0.04;0.021;0.007	D	0.91585	0.5282	10	0.62326	D	0.03	.	10.5688	0.45188	0.0:0.0716:0.0:0.9284	.	296;296;296;296;296;296	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	P	296	ENSP00000345055:S296P;ENSP00000347326:S296P;ENSP00000359425:S296P;ENSP00000359419:S296P;ENSP00000385501:S296P;ENSP00000347853:S296P;ENSP00000384453:S296P;ENSP00000409861:S296P	ENSP00000345055:S296P	S	+	1	0	KCNQ5	73844299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.403000	0.59729	2.237000	0.73441	0.528000	0.53228	TCT	KCNQ5	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl	ENSG00000185760		0.318	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	129	0.77	1	T	NM_019842		73787578	73787578	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	missense	111	20.71	29	SNP	1.000	C
LILRB4	11006	genome.wustl.edu	37	19	55174519	55174519	+	Splice_Site	SNP	G	G	A	rs147307497	byFrequency	TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr19:55174519G>A	ENST00000391736.1	+	3	349	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	LILRB4_ENST00000391733.3_Splice_Site_p.G12R|LILRB4_ENST00000270452.2_Splice_Site_p.G12R|LILRB4_ENST00000430952.2_Splice_Site_p.G12R|LILRB4_ENST00000391734.3_Splice_Site_p.G12R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	12					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GCTCTGCCTCGGTGAGATTTA	0.577											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													44.0	47.0	46.0					19																	55174519		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.34+1G>A	19.37:g.55174519G>A		1005	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	pfam_Immunoglobulin,pfscan_Ig-like	p.G12R	ENST00000391736.1	37	c.34	CCDS12902.1	19	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904768	0.52333	.	.	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00527	6.88;6.88;6.88;6.79;6.87;6.79	2.87	2.87	0.33458	.	.	.	.	.	T	0.01976	0.0062	M	0.91561	3.22	0.31180	N	0.702156	D;D;D;D;D;D	0.71674	0.997;0.998;0.995;0.994;0.99;0.998	P;P;D;D;P;P	0.66497	0.796;0.82;0.944;0.912;0.769;0.831	T	0.02539	-1.1144	9	0.87932	D	0	.	9.4863	0.38931	0.0:0.0:1.0:0.0	.	24;12;12;12;12;53	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;.;LIRB4_HUMAN;.	R	53;12;12;12;12;12;12	ENSP00000375616:G12R;ENSP00000270452:G12R;ENSP00000408995:G12R;ENSP00000375614:G12R;ENSP00000375613:G12R;ENSP00000401962:G12R	ENSP00000270452:G12R	G	+	1	0	LILRB4	59866331	0.831000	0.29352	0.167000	0.22817	0.006000	0.05464	0.916000	0.28651	1.301000	0.44836	0.407000	0.27541	GGG	LILRB4	-	NULL	ENSG00000186818		0.577	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	22	0.00	0	G		Missense_Mutation	55174519	55174519	+1	no_errors	ENST00000270452	ensembl	human	known	69_37n	missense	14	39.13	9	SNP	0.682	A
MAGEA4	4103	genome.wustl.edu	37	X	151092941	151092941	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chrX:151092941C>T	ENST00000360243.2	+	3	1072	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	MAGEA4_ENST00000370335.1_Missense_Mutation_p.R269C|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R269C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R269C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R269C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R269C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R269C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	269	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TAATCCTGCGCGCTATGAGTT	0.557																																						dbGAP											0													104.0	105.0	105.0					X																	151092941		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.805C>T	X.37:g.151092941C>T	ENSP00000353379:p.Arg269Cys		Q14798	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R269C	ENST00000360243.2	37	c.805	CCDS14702.1	X	.	.	.	.	.	.	.	.	.	.	C	4.529	0.098264	0.08681	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000370337;ENST00000393920;ENST00000370340;ENST00000370335;ENST00000360243	T;T;T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51;3.51;3.51	2.37	-3.41	0.04839	.	0.950416	0.08750	N	0.899212	T	0.03348	0.0097	N	0.20328	0.56	0.09310	N	1	B	0.19935	0.04	B	0.11329	0.006	T	0.45818	-0.9235	9	.	.	.	.	3.8976	0.09146	0.1893:0.2572:0.0:0.5535	.	269	P43358	MAGA4_HUMAN	C	269	ENSP00000276344:R269C;ENSP00000377498:R269C;ENSP00000359362:R269C;ENSP00000377497:R269C;ENSP00000359365:R269C;ENSP00000359360:R269C;ENSP00000353379:R269C	.	R	+	1	0	MAGEA4	150843597	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.758000	0.00787	-1.292000	0.02366	-0.724000	0.03597	CGC	MAGEA4	-	pfam_MAGE,pfscan_MAGE	ENSG00000147381		0.557	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA4	HGNC	protein_coding	OTTHUMT00000060898.1	50	0.00	0	C	NM_002362		151092941	151092941	+1	no_errors	ENST00000276344	ensembl	human	known	69_37n	missense	21	58.00	29	SNP	0.000	T
PPP3R1	5534	genome.wustl.edu	37	2	68413703	68413703	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr2:68413703C>T	ENST00000234310.3	-	5	765	c.362G>A	c.(361-363)gGg>gAg	p.G121E	PPP3R1_ENST00000409377.1_Missense_Mutation_p.G111E|RP11-474G23.1_ENST00000406334.3_Missense_Mutation_p.G111E|PPP3R1_ENST00000409752.1_Missense_Mutation_p.G140E	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	121	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904)			large_intestine(1)	1						CAGATTGTTCCCCACCATCAT	0.358																																						dbGAP											0													155.0	141.0	145.0					2																	68413703		1976	4220	6196	-	-	-	SO:0001583	missense	0			M30773	CCDS46310.1	2p14	2013-01-10	2010-04-14		ENSG00000221823	ENSG00000221823	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits"", ""EF-hand domain containing"""	9317	protein-coding gene	gene with protein product	"""calcineurin B, type I (19kDa)"", ""protein phosphatase 2B regulatory subunit B alpha"""	601302	"""protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform"""			8978785, 2558868	Standard	NM_000945		Approved	CALNB1, CNB, CNB1	uc002sei.1	P63098	OTTHUMG00000129561	ENST00000234310.3:c.362G>A	2.37:g.68413703C>T	ENSP00000234310:p.Gly121Glu		B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin	p.G111E	ENST00000234310.3	37	c.332	CCDS46310.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.120570	0.94385	.	.	ENSG00000221823	ENST00000234310;ENST00000409752;ENST00000409377	T;T;T	0.74737	-0.87;-0.87;-0.87	5.76	5.76	0.90799	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.89324	0.3642	10	0.87932	D	0	.	19.9596	0.97236	0.0:1.0:0.0:0.0	.	121	P63098	CANB1_HUMAN	E	121;140;111	ENSP00000234310:G121E;ENSP00000387216:G140E;ENSP00000387148:G111E	ENSP00000234310:G121E	G	-	2	0	PPP3R1	68267207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.738000	0.84966	2.723000	0.93209	0.585000	0.79938	GGG	PPP3R1	-	pfscan_EF_HAND_2	ENSG00000221823		0.358	PPP3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R1	HGNC	protein_coding	OTTHUMT00000326765.4	125	0.79	1	C	NM_000945		68413703	68413703	-1	no_errors	ENST00000406334	ensembl	human	known	69_37n	missense	66	45.45	55	SNP	1.000	T
SERPINF2	5345	genome.wustl.edu	37	17	1650702	1650702	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr17:1650702T>C	ENST00000324015.3	+	7	688	c.611T>C	c.(610-612)aTc>aCc	p.I204T	SERPINF2_ENST00000382061.4_Missense_Mutation_p.I204T|SERPINF2_ENST00000450523.2_Missense_Mutation_p.I140T	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	204					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	CTGGCAAACATCAACCAATGG	0.532																																						dbGAP											0													79.0	67.0	71.0					17																	1650702		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.611T>C	17.37:g.1650702T>C	ENSP00000321853:p.Ile204Thr		B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.I204T	ENST00000324015.3	37	c.611	CCDS11011.1	17	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417383	0.83449	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000450523;ENST00000423861;ENST00000382061	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	5.22	5.22	0.72569	Serpin domain (3);	0.102042	0.64402	D	0.000004	D	0.96651	0.8907	M	0.90814	3.15	0.54753	D	0.999983	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.97514	1.0068	10	0.87932	D	0	.	15.1138	0.72384	0.0:0.0:0.0:1.0	.	140;204	B4E1B7;P08697	.;A2AP_HUMAN	T	204;204;140;140;204	ENSP00000402286:I204T;ENSP00000321853:I204T;ENSP00000403877:I140T;ENSP00000371493:I204T	ENSP00000321853:I204T	I	+	2	0	SERPINF2	1597452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.788000	0.75105	1.985000	0.57927	0.528000	0.53228	ATC	SERPINF2	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000167711		0.532	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF2	HGNC	protein_coding	OTTHUMT00000207078.3	31	0.00	0	T	NM_000934		1650702	1650702	+1	no_errors	ENST00000324015	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	1.000	C
SETD5	55209	genome.wustl.edu	37	3	9495453	9495453	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr3:9495453A>G	ENST00000406341.1	+	16	2567	c.2377A>G	c.(2377-2379)Atg>Gtg	p.M793V	SETD5_ENST00000402198.1_Missense_Mutation_p.M793V|SETD5_ENST00000302463.6_Missense_Mutation_p.M695V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402466.1_Missense_Mutation_p.M695V|SETD5_ENST00000407969.1_Missense_Mutation_p.M812V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	793										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGAAGAAGGGATGACTCAAAC	0.363																																						dbGAP											0													125.0	120.0	122.0					3																	9495453		1867	4098	5965	-	-	-	SO:0001583	missense	0			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2377A>G	3.37:g.9495453A>G	ENSP00000383939:p.Met793Val		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.M793V	ENST00000406341.1	37	c.2377	CCDS46741.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.38|15.38	2.817531|2.817531	0.50633|0.50633	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000399686;ENST00000421188|ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.|D;D;D;D;D	.|0.91686	.|-2.57;-2.89;-2.57;-2.57;-2.89	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.168420	.|0.64402	.|D	.|0.000006	D|D	0.84442|0.84442	0.5473|0.5473	L|L	0.27053|0.27053	0.805|0.805	0.37450|0.37450	D|D	0.914789|0.914789	.|B;B;P;B	.|0.38535	.|0.043;0.01;0.635;0.002	.|B;B;B;B	.|0.33254	.|0.031;0.013;0.16;0.004	D|D	0.84819|0.84819	0.0795|0.0795	5|10	.|0.08599	.|T	.|0.76	-3.4024|-3.4024	15.938|15.938	0.79729|0.79729	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|462;695;793;812	.|B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.|.;.;SETD5_HUMAN;.	G|V	460;104|793;695;793;812;695	.|ENSP00000385852:M793V;ENSP00000384429:M695V;ENSP00000383939:M793V;ENSP00000384114:M812V;ENSP00000302028:M695V	.|ENSP00000302028:M695V	D|M	+|+	2|1	0|0	SETD5|SETD5	9470453|9470453	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.985000|0.985000	0.73830|0.73830	6.744000|6.744000	0.74854|0.74854	2.222000|2.222000	0.72286|0.72286	0.533000|0.533000	0.62120|0.62120	GAT|ATG	SETD5	-	NULL	ENSG00000168137		0.363	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	48	0.00	0	A	XM_371614		9495453	9495453	+1	no_errors	ENST00000402198	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	1.000	G
TBP	6908	genome.wustl.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724|rs369312237		TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000230354.6_Silent_p.Q77Q|TBP_ENST00000540980.1_Silent_p.Q57Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572																																						dbGAP											0													14.0	18.0	17.0					6																	170871055		1934	3804	5738	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.231G>A	6.37:g.170871055G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q77	ENST00000392092.2	37	c.231	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	8	0.00	0	G	NM_003194		170871055	170871055	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	14	61.54	24	SNP	0.993	A
TRIP10	9322	genome.wustl.edu	37	19	6743794	6743794	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A1FL-01A-11D-A13L-09	TCGA-BH-A1FL-11A-13D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bb84cbb1-7244-4d92-8977-a37dbafc47b4	d669a784-1fb6-417f-b4e6-34486d51f2e0	g.chr19:6743794delT	ENST00000313244.9	+	7	624	c.589delT	c.(589-591)ttcfs	p.F197fs	TRIP10_ENST00000596758.1_Frame_Shift_Del_p.F197fs|TRIP10_ENST00000600428.1_Frame_Shift_Del_p.F89fs|TRIP10_ENST00000313285.8_Frame_Shift_Del_p.F197fs			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	197	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ACTGCAGCGCTTCAACCGAGA	0.512																																						dbGAP											0													191.0	172.0	179.0					19																	6743794		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.589delT	19.37:g.6743794delT	ENSP00000320117:p.Phe197fs		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Frame_Shift_Del	DEL	pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.F197fs	ENST00000313244.9	37	c.589		19																																																																																			TRIP10	-	NULL	ENSG00000125733		0.512	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	81	0.00	0	T			6743794	6743794	+1	no_errors	ENST00000313244	ensembl	human	known	69_37n	frame_shift_del	43	34.85	23	DEL	1.000	-
