#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_CAF	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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
IGSF1	3547	genome.wustl.edu	37	X	130409533	130409533	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chrX:130409533G>A	ENST00000361420.3	-	16	3182	c.3103C>T	c.(3103-3105)Cgt>Tgt	p.R1035C	IGSF1_ENST00000370903.3_Missense_Mutation_p.R1040C|IGSF1_ENST00000370910.1_Missense_Mutation_p.R1026C|IGSF1_ENST00000370904.1_Missense_Mutation_p.R1026C|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1035	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.R1035C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGCTGTAACGCCCCATGCTA	0.517																																							0											1	Substitution - Missense(1)	large_intestine(1)											151.0	126.0	134.0					X																	130409533		2203	4300	6503	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3103C>T	X.37:g.130409533G>A	ENSP00000355010:p.Arg1035Cys		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R1040C	ENST00000361420.3	37	c.3118	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748617	0.49257	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.67	4.67	0.58626	Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000220	T	0.38692	0.1050	M	0.84326	2.69	0.44000	D	0.996709	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.976;0.997	T	0.22208	-1.0223	10	0.66056	D	0.02	.	11.8031	0.52139	0.0:0.0:1.0:0.0	.	1026;479;1035	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	1026;1035;1026;1040	ENSP00000359947:R1026C;ENSP00000355010:R1035C;ENSP00000359941:R1026C;ENSP00000359940:R1040C	ENSP00000355010:R1035C	R	-	1	0	IGSF1	130237214	0.896000	0.30565	0.991000	0.47740	0.643000	0.38383	2.156000	0.42310	2.562000	0.86427	0.600000	0.82982	CGT	0	smart_Ig_sub,smart_Ig_sub2		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	15	92	0	0.00	0	0	G		0	0		130409533	-1	no_errors	ENST00000370903	ensembl	human	known	74_37	missense	9	38	59.09	62.38	13	63	SNP	0.987	A
F8	2157	genome.wustl.edu	37	X	154159467	154159467	+	Missense_Mutation	SNP	C	C	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chrX:154159467C>A	ENST00000360256.4	-	14	2798	c.2598G>T	c.(2596-2598)atG>atT	p.M866I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	866	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGTAAATACCATGTCCCCAC	0.428																																							0											0													80.0	70.0	74.0					X																	154159467		2203	4298	6501	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2598G>T	X.37:g.154159467C>A	ENSP00000353393:p.Met866Ile		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.M866I	ENST00000360256.4	37	c.2598	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	C	2.777	-0.254409	0.05829	.	.	ENSG00000185010	ENST00000360256	D	0.98996	-5.31	4.81	1.83	0.25207	.	0.964568	0.08592	N	0.922837	D	0.94208	0.8141	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.90511	0.4481	10	0.38643	T	0.18	-0.382	4.8116	0.13345	0.0:0.4103:0.0:0.5897	.	866	P00451	FA8_HUMAN	I	866	ENSP00000353393:M866I	ENSP00000353393:M866I	M	-	3	0	F8	153812661	0.060000	0.20803	0.190000	0.23270	0.644000	0.38419	0.310000	0.19356	0.562000	0.29204	-0.268000	0.10319	ATG	0	NULL		0.428	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	21	88	0	0.00	0	0	C		0	0		154159467	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	2	49	87.5	67.11	14	100	SNP	0.024	A
NRAS	4893	genome.wustl.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													0		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	610	Substitution - Missense(609)|Complex(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)											180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys		Q14971|Q15104|Q15282	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q61K	ENST00000369535.4	37	c.181	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	50	186	0	0.00	0	0	G	NM_002524	rs121913254	G->A,C,T		115256530	-1	no_errors	ENST00000369535	ensembl	human	known	74_37	missense	70	262	32.69	27.27	34	99	SNP	1	T
PDE4DIP	9659	genome.wustl.edu	37	1	144852464	144852464	+	Silent	SNP	G	G	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr1:144852464G>A	ENST00000369354.3	-	44	7224	c.7035C>T	c.(7033-7035)gcC>gcT	p.A2345A	PDE4DIP_ENST00000313382.9_Silent_p.A2239A|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Silent_p.A2430A|PDE4DIP_ENST00000369359.4_Silent_p.A2481A|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2345					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGGTCACAAGGCTGGAGTAC	0.512			T	PDGFRB	MPD																																		0		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													58.0	57.0	57.0					1																	144852464		2203	4294	6497	SO:0001819	synonymous_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.7035C>T	1.37:g.144852464G>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.A2345	ENST00000369354.3	37	c.7035	CCDS30824.1	1																																																																																			0	NULL		0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	284	76	0	0.00	0	0	G	NM_022359	0	0		144852464	-1	no_errors	ENST00000369354	ensembl	human	known	74_37	silent	257	114	16.77	19.15	52	27	SNP	0.833	A
SPTA1	6708	genome.wustl.edu	37	1	158641928	158641928	+	Missense_Mutation	SNP	C	C	T	rs370498187		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr1:158641928C>T	ENST00000368147.4	-	11	1589	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	470					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATACTGACGATGACGCTC	0.453																																							0.9998,0.0001997,.											0								T	HIS/ARG	0,3932		0,0,1966	114.0	110.0	111.0		1409	2.7	0.0	1		111	1,8321		0,1,4160	no	missense	SPTA1	NM_003126.2	29	0,1,6126	TT,TC,CC		0.012,0.0,0.0082	benign	470/2420	158641928	1,12253	1966	4161	6127	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1409G>A	1.37:g.158641928C>T	ENSP00000357129:p.Arg470His		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R470H	ENST00000368147.4	37	c.1409	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	4.511	0.094805	0.08681	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.0	2.66	0.31614	.	0.810877	0.10077	N	0.718994	T	0.06645	0.0170	N	0.01048	-1.04	0.21355	N	0.999714	B	0.02656	0.0	B	0.04013	0.001	T	0.42189	-0.9466	10	0.27785	T	0.31	.	10.5345	0.44996	0.0:0.2099:0.0:0.7901	.	470	P02549	SPTA1_HUMAN	H	470	ENSP00000357130:R470H;ENSP00000357129:R470H	ENSP00000357129:R470H	R	-	2	0	SPTA1	156908552	0.998000	0.40836	0.001000	0.08648	0.032000	0.12392	2.804000	0.47931	-0.160000	0.11002	-2.269000	0.00276	CGT	0	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	protein_coding	OTTHUMT00000051851.3	53	187	0	0.53	0	1	C	NM_003126	rs370498187	C->G,T		158641928	-1	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	36	179	35.71	31.68	20	83	SNP	0.779	T
OR14A16	284532	genome.wustl.edu	37	1	247978147	247978147	+	Missense_Mutation	SNP	C	C	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr1:247978147C>A	ENST00000357627.1	-	1	884	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CCAGAGCCACCTTTATGGCCT	0.368																																					Ovarian(112;180 1586 15073 21914 33526)		0											0													60.0	59.0	59.0					1																	247978147		2203	4300	6503	SO:0001583	missense	0			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.885G>T	1.37:g.247978147C>A	ENSP00000350248:p.Lys295Asn		Q6IF96	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K295N	ENST00000357627.1	37	c.885	CCDS31097.1	1	.	.	.	.	.	.	.	.	.	.	C	9.595	1.127237	0.20959	.	.	ENSG00000196772	ENST00000357627	T	0.40756	1.02	3.69	0.433	0.16534	.	0.000000	0.47093	U	0.000242	T	0.62998	0.2474	H	0.96175	3.78	0.09310	N	1	P	0.50617	0.937	P	0.52627	0.704	T	0.60444	-0.7262	10	0.72032	D	0.01	.	9.3751	0.38278	0.0:0.6997:0.0:0.3003	.	295	Q8NHC5	O14AG_HUMAN	N	295	ENSP00000350248:K295N	ENSP00000350248:K295N	K	-	3	2	OR14A16	246044770	0.000000	0.05858	0.040000	0.18447	0.107000	0.19398	-0.902000	0.04088	0.277000	0.22141	0.596000	0.82720	AAG	0	prints_GPCR_Rhodpsn		0.368	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14A16	protein_coding	OTTHUMT00000096856.1	77	187	0	0.00	0	0	C	NM_001001966	0	0		247978147	-1	no_errors	ENST00000357627	ensembl	human	known	74_37	missense	74	190	41.86	33.80	54	97	SNP	0.091	A
ALMS1	7840	genome.wustl.edu	37	2	73680585	73680585	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr2:73680585G>A	ENST00000264448.6	+	8	7039	c.6928G>A	c.(6928-6930)Gta>Ata	p.V2310I	ALMS1_ENST00000377715.1_Missense_Mutation_p.V2310I|ALMS1_ENST00000409009.1_Missense_Mutation_p.V2268I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2310					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCCACGGGTGTATCTAATGG	0.428																																							0											0													80.0	77.0	78.0					2																	73680585		1884	4102	5986	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6928G>A	2.37:g.73680585G>A	ENSP00000264448:p.Val2310Ile		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.V2310I	ENST00000264448.6	37	c.6928	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.355300	0.01256	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16597	3.25;3.25;2.33	5.36	-0.772	0.10998	.	0.724192	0.12459	N	0.467039	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.10450	0.005;0.005;0.005	T	0.41448	-0.9508	10	0.15066	T	0.55	.	4.7617	0.13111	0.3917:0.0:0.4711:0.1372	.	2310;2268;2310	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	2268;2310;2310	ENSP00000386627:V2268I;ENSP00000264448:V2310I;ENSP00000366944:V2310I	ENSP00000264448:V2310I	V	+	1	0	ALMS1	73534093	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	-0.006000	0.12833	-0.387000	0.07809	-0.825000	0.03093	GTA	0	NULL		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	protein_coding	OTTHUMT00000327776.1	26	173	0	0.00	0	0	G	NM_015120	0	0		73680585	1	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	39	175	32.76	37.72	19	106	SNP	0.001	A
SETD5	55209	genome.wustl.edu	37	3	9506447	9506447	+	Intron	SNP	T	T	C			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr3:9506447T>C	ENST00000406341.1	+	17	2914				SETD5_ENST00000402198.1_Intron|SETD5_ENST00000402466.1_Intron|SETD5_ENST00000302463.6_Intron|SETD5_ENST00000407969.1_Intron|SETD5_ENST00000488236.1_3'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5											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)		CAAATGTTTCTTTACTATCTT	0.423																																							0											0																																										SO:0001627	intron_variant	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.2724+91T>C	3.37:g.9506447T>C			Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	RNA	SNP	0	NULL	ENST00000406341.1	37	NULL	CCDS46741.1	3																																																																																			0	0		0.423	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	protein_coding	OTTHUMT00000318425.1	48	196	0	0.00	0	0	T	XM_371614	0	0		9506447	1	no_errors	ENST00000478961	ensembl	human	known	74_37	rna	53	214	26.03	29.51	19	90	SNP	0.486	C
ZBBX	79740	genome.wustl.edu	37	3	167045798	167045798	+	Missense_Mutation	SNP	A	A	G	rs191259737		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr3:167045798A>G	ENST00000392766.2	-	11	1134	c.794T>C	c.(793-795)gTg>gCg	p.V265A	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.V265A|ZBBX_ENST00000307529.5_Missense_Mutation_p.V265A|ZBBX_ENST00000392764.1_Missense_Mutation_p.V236A|ZBBX_ENST00000392767.2_Missense_Mutation_p.V265A	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	265						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGACTTAACACTTCCTGAAA	0.363													A|||	1	0.000199681	0.0	0.0	5008	,	,		16246	0.0		0.001	False		,,,				2504	0.0						0.9998,0.0001997											0								A	ALA/VAL,ALA/VAL,ALA/VAL	0,3762		0,0,1881	220.0	204.0	209.0		794,707,794	-3.6	0.0	3		209	4,8228		0,4,4112	yes	missense,missense,missense	ZBBX	NM_001199201.1,NM_001199202.1,NM_024687.3	64,64,64	0,4,5993	GG,GA,AA		0.0486,0.0,0.0334	benign,benign,benign	265/840,236/772,265/801	167045798	4,11990	1881	4116	5997	SO:0001583	missense	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.794T>C	3.37:g.167045798A>G	ENSP00000376519:p.Val265Ala		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.V265A	ENST00000392766.2	37	c.794	CCDS3199.2	3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	0.040	-1.290078	0.01387	0.0	4.86E-4	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.07327	3.37;3.37;3.37;3.37;3.2	5.57	-3.57	0.04612	.	1.040650	0.07770	N	0.951484	T	0.04407	0.0121	N	0.11789	0.175	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.48080	-0.9066	10	0.08381	T	0.77	-0.0035	12.9458	0.58371	0.3222:0.0:0.6778:0.0	.	265;265	A8MT70-2;A8MT70	.;ZBBX_HUMAN	A	265;265;265;265;236	ENSP00000376519:V265A;ENSP00000376520:V265A;ENSP00000390232:V265A;ENSP00000305065:V265A;ENSP00000376517:V236A	ENSP00000305065:V265A	V	-	2	0	ZBBX	168528492	0.028000	0.19301	0.000000	0.03702	0.005000	0.04900	-0.377000	0.07456	-0.980000	0.03524	-0.385000	0.06624	GTG	0	NULL		0.363	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	protein_coding	OTTHUMT00000257657.3	39	146	0	0.00	0	0	A	NM_024687	rs191259737	A->G		167045798	-1	no_errors	ENST00000307529	ensembl	human	known	74_37	missense	69	195	21.59	30.80	19	89	SNP	0.002	G
BMPR1B	658	genome.wustl.edu	37	4	96035936	96035936	+	Missense_Mutation	SNP	G	G	T			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr4:96035936G>T	ENST00000515059.1	+	5	492	c.209G>T	c.(208-210)gGt>gTt	p.G70V	BMPR1B_ENST00000440890.2_Missense_Mutation_p.G100V|BMPR1B_ENST00000502683.1_Missense_Mutation_p.G70V|BMPR1B_ENST00000264568.4_Missense_Mutation_p.G70V|BMPR1B_ENST00000394931.1_Missense_Mutation_p.G70V	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	70					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GTCACTTCTGGTTGCCTAGGA	0.423																																							0											0													306.0	289.0	295.0					4																	96035936		2203	4300	6503	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.209G>T	4.37:g.96035936G>T	ENSP00000426617:p.Gly70Val		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.G100V	ENST00000515059.1	37	c.299	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963948	0.53507	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	5.82	5.82	0.92795	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	.	20.5436	0.99274	0.0:0.0:1.0:0.0	.	70	O00238	BMR1B_HUMAN	V	70;70;70;70;100;70;70;70	ENSP00000426617:G70V;ENSP00000421144:G70V;ENSP00000425444:G70V;ENSP00000421671:G70V;ENSP00000401907:G100V;ENSP00000424693:G70V;ENSP00000264568:G70V;ENSP00000378389:G70V	ENSP00000264568:G70V	G	+	2	0	BMPR1B	96254959	1.000000	0.71417	0.790000	0.31976	0.016000	0.09150	8.084000	0.89516	2.932000	0.99384	0.644000	0.83932	GGT	0	pfam_Activin_rcpt		0.423	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	protein_coding	OTTHUMT00000253609.3	85	181	0	0.00	0	0	G	NM_001203	0	0		96035936	1	no_errors	ENST00000440890	ensembl	human	known	74_37	missense	59	251	41.58	24.32	42	81	SNP	0.996	T
CTNND2	1501	genome.wustl.edu	37	5	11111062	11111062	+	Missense_Mutation	SNP	C	C	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr5:11111062C>A	ENST00000304623.8	-	14	2560	c.2371G>T	c.(2371-2373)Gac>Tac	p.D791Y	CTNND2_ENST00000458100.2_Missense_Mutation_p.D358Y|CTNND2_ENST00000503622.1_Missense_Mutation_p.D454Y|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.D791Y|CTNND2_ENST00000511377.1_Missense_Mutation_p.D700Y	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	791					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGTAGCCCGTCCAGCTCGTCC	0.547																																							0											0													135.0	141.0	139.0					5																	11111062		2203	4300	6503	SO:0001583	missense	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2371G>T	5.37:g.11111062C>A	ENSP00000307134:p.Asp791Tyr		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D791Y	ENST00000304623.8	37	c.2371	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830290	0.91036	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	D	0.92002	0.5611	10	0.87932	D	0	-31.6168	19.8968	0.96969	0.0:1.0:0.0:0.0	.	454;358;791	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	Y	791;791;700;358;454	ENSP00000307134:D791Y;ENSP00000352661:D791Y;ENSP00000426510:D700Y;ENSP00000391155:D358Y;ENSP00000426887:D454Y	ENSP00000307134:D791Y	D	-	1	0	CTNND2	11164062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.691000	0.91804	0.655000	0.94253	GAC	0	superfamily_ARM-type_fold		0.547	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	protein_coding	OTTHUMT00000206999.1	32	100	0	0.00	0	0	C	NM_001332	0	0		11111062	-1	no_errors	ENST00000304623	ensembl	human	known	74_37	missense	25	93	32.43	32.61	12	45	SNP	1	A
TRIO	7204	genome.wustl.edu	37	5	14389437	14389437	+	Missense_Mutation	SNP	C	C	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr5:14389437C>A	ENST00000344204.4	+	25	4012	c.3988C>A	c.(3988-3990)Cca>Aca	p.P1330T	TRIO_ENST00000509967.2_Missense_Mutation_p.P1281T|TRIO_ENST00000537187.1_Missense_Mutation_p.P1330T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1330	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGAAGAGATTCCACCTGGCAT	0.413																																							0											0													102.0	101.0	101.0					5																	14389437		2203	4300	6503	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3988C>A	5.37:g.14389437C>A	ENSP00000339299:p.Pro1330Thr		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P1330T	ENST00000344204.4	37	c.3988	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203071	0.79127	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.30981	1.51;1.51;1.51	6.03	6.03	0.97812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	0.977;0.998;1.0	P;D;D	0.85130	0.82;0.956;0.997	T	0.65434	-0.6169	10	0.62326	D	0.03	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1281;1330;1330	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	T	1330;1330;1281;1017	ENSP00000339299:P1330T;ENSP00000446348:P1330T;ENSP00000445592:P1281T	ENSP00000339299:P1330T	P	+	1	0	TRIO	14442437	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CCA	0	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.413	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	51	274	0	0.00	0	0	C	NM_007118	0	0		14389437	1	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	46	252	30.3	30.77	20	112	SNP	1	A
BRD2	6046	genome.wustl.edu	37	6	32943248	32943248	+	Missense_Mutation	SNP	T	T	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr6:32943248T>A	ENST00000374825.4	+	4	2122	c.421T>A	c.(421-423)Tgt>Agt	p.C141S	BRD2_ENST00000395289.2_Missense_Mutation_p.C141S|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2_ENST00000443797.2_Missense_Mutation_p.C21S|BRD2_ENST00000374831.4_Missense_Mutation_p.C141S|BRD2_ENST00000395287.1_Missense_Mutation_p.C141S|BRD2_ENST00000449085.2_Missense_Mutation_p.C94S	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	141	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						TGCTTCAGAGTGTATGCAAGA	0.333																																							0											0													92.0	88.0	90.0					6																	32943248		1510	2709	4219	SO:0001583	missense	0			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.421T>A	6.37:g.32943248T>A	ENSP00000363958:p.Cys141Ser		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.C141S	ENST00000374825.4	37	c.421	CCDS4762.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.0|25.0	4.587277|4.587277	0.86851|0.86851	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085|ENST00000456339;ENST00000449025	T;T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59;1.59|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Bromodomain (6);Bromodomain, conserved site (1);|.	0.000000|.	0.56097|.	D|.	0.000039|.	T|T	0.71358|0.71358	0.3330|0.3330	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.992;0.992|.	D;D|.	0.70227|.	0.968;0.931|.	T|T	0.74674|0.74674	-0.3586|-0.3586	10|5	0.72032|.	D|.	0.01|.	-12.9131|-12.9131	13.8401|13.8401	0.63432|0.63432	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	141;141|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	S|R	141;141;141;21;141;94|142;146	ENSP00000363958:C141S;ENSP00000363964:C141S;ENSP00000378704:C141S;ENSP00000413495:C21S;ENSP00000378702:C141S;ENSP00000409145:C94S|.	ENSP00000363958:C141S|.	C|S	+|+	1|3	0|2	BRD2|BRD2	33051226|33051226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.077000|6.077000	0.71275|0.71275	2.363000|2.363000	0.80096|0.80096	0.523000|0.523000	0.50628|0.50628	TGT|AGT	0	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.333	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	protein_coding	OTTHUMT00000076503.2	85	214	0	0.00	0	0	T		0	0		32943248	1	no_errors	ENST00000395289	ensembl	human	known	74_37	missense	103	268	27.97	33.83	40	137	SNP	1	A
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																							0											0																																												0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G				RNA	SNP	0	NULL	ENST00000425256.1	37	NULL		7																																																																																			0	0		0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	pseudogene	OTTHUMT00000345921.1	15	12	0	0.00	0	0	T	NR_002164	0	0		72663998	-1	no_errors	ENST00000425256	ensembl	human	known	74_37	rna	25	36	13.79	12.20	4	5	SNP	1	G
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	261	115	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	342	126	33.33	35.05	171	68	SNP	1	A
FRA10AC1	118924	genome.wustl.edu	37	10	95429586	95429586	+	Silent	SNP	T	T	C			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr10:95429586T>C	ENST00000359204.4	-	14	1142	c.945A>G	c.(943-945)ctA>ctG	p.L315L	FRA10AC1_ENST00000460752.1_5'UTR|FRA10AC1_ENST00000536233.1_3'UTR	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	315						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TCTCGTCTCATAGAAACAAAT	0.294																																							0											0													71.0	74.0	73.0					10																	95429586		2201	4299	6500	SO:0001819	synonymous_variant	0			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.945A>G	10.37:g.95429586T>C			C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Silent	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.L315	ENST00000359204.4	37	c.945	CCDS7430.1	10																																																																																			0	NULL		0.294	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	protein_coding	OTTHUMT00000049439.1	93	126	0	0.00	0	0	T	NM_145246	0	0		95429586	-1	no_errors	ENST00000359204	ensembl	human	known	74_37	silent	106	160	26.21	31.62	38	74	SNP	0.973	C
PTDSS2	81490	genome.wustl.edu	37	11	489643	489643	+	Missense_Mutation	SNP	C	C	T	rs191633129		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr11:489643C>T	ENST00000308020.5	+	10	1201	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	342					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	TGGATGCCCCCGGAGCACTAC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		14229	0.0		0.001	False		,,,				2504	0.0						0.9998,0.0001997											0													57.0	49.0	51.0					11																	489643		2198	4298	6496	SO:0001583	missense	0			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1025C>T	11.37:g.489643C>T	ENSP00000308258:p.Pro342Leu			Missense_Mutation	SNP	pfam_PSS	p.P342L	ENST00000308020.5	37	c.1025	CCDS7696.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.0	4.368445	0.82463	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.2	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.79644	0.4481	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.84454	0.0590	9	0.66056	D	0.02	-16.275	15.6881	0.77426	0.0:1.0:0.0:0.0	.	342	Q9BVG9	PTSS2_HUMAN	L	342	.	ENSP00000308258:P342L	P	+	2	0	PTDSS2	479643	1.000000	0.71417	0.873000	0.34254	0.842000	0.47809	7.363000	0.79516	2.114000	0.64651	0.561000	0.74099	CCG	0	pfam_PSS		0.617	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS2	protein_coding	OTTHUMT00000239301.2	46	135	0	0.00	0	0	C		rs191633129	C->T		489643	1	no_errors	ENST00000308020	ensembl	human	known	74_37	missense	25	137	39.02	29.08	16	57	SNP	1	T
SLC39A13	91252	genome.wustl.edu	37	11	47435002	47435002	+	Missense_Mutation	SNP	T	T	C			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr11:47435002T>C	ENST00000362021.4	+	5	631	c.589T>C	c.(589-591)Tgt>Cgt	p.C197R	SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000354884.4_Missense_Mutation_p.C197R|SLC39A13_ENST00000524928.1_Missense_Mutation_p.C197R|SLC39A13_ENST00000533076.1_Missense_Mutation_p.C197R	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	197					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGGAGGCCACTGTCTGGCCCA	0.667																																							0											0													27.0	30.0	29.0					11																	47435002		2200	4297	6497	SO:0001583	missense	0				CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.589T>C	11.37:g.47435002T>C	ENSP00000354689:p.Cys197Arg		D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	pfam_ZIP	p.C197R	ENST00000362021.4	37	c.589	CCDS44592.1	11	.	.	.	.	.	.	.	.	.	.	T	9.113	1.007167	0.19199	.	.	ENSG00000165915	ENST00000533076;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.28	4.13	0.48395	.	11.194700	0.00166	N	0.000000	T	0.41834	0.1176	L	0.49350	1.555	0.39247	D	0.963967	B;B;B	0.17667	0.0;0.0;0.023	B;B;B	0.17979	0.002;0.002;0.02	T	0.11616	-1.0580	10	0.24483	T	0.36	-9.6102	8.1535	0.31154	0.0:0.0929:0.0:0.9071	.	197;197;197	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	R	197	ENSP00000434290:C197R;ENSP00000354689:C197R;ENSP00000346956:C197R;ENSP00000432499:C197R;ENSP00000437186:C197R	ENSP00000346956:C197R	C	+	1	0	SLC39A13	47391578	0.002000	0.14202	0.487000	0.27428	0.944000	0.59088	0.365000	0.20348	0.823000	0.34589	0.374000	0.22700	TGT	0	pfam_ZIP		0.667	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	SLC39A13	protein_coding	OTTHUMT00000395652.1	82	39	0	0.00	0	0	T	NM_152264	0	0		47435002	1	no_errors	ENST00000362021	ensembl	human	known	74_37	missense	40	43	34.43	17.31	21	9	SNP	0.329	C
KIRREL3	84623	genome.wustl.edu	37	11	126316678	126316678	+	Silent	SNP	G	G	T			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr11:126316678G>T	ENST00000525144.2	-	9	1350	c.1101C>A	c.(1099-1101)gtC>gtA	p.V367V	KIRREL3_ENST00000525704.2_Silent_p.V367V|KIRREL3_ENST00000529097.2_Silent_p.V367V	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	367	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTTCATCCAGACGATGGTCA	0.647																																							0											0													28.0	31.0	30.0					11																	126316678		2026	4177	6203	SO:0001819	synonymous_variant	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1101C>A	11.37:g.126316678G>T			Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V367	ENST00000525144.2	37	c.1101	CCDS53723.1	11																																																																																			0	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.647	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	protein_coding	OTTHUMT00000386479.2	32	35	0	0.00	0	0	G	NM_032531	0	0		126316678	-1	no_errors	ENST00000525144	ensembl	human	known	74_37	silent	21	32	34.38	25.58	11	11	SNP	0.996	T
TBK1	29110	genome.wustl.edu	37	12	64858242	64858242	+	Splice_Site	SNP	G	G	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr12:64858242G>A	ENST00000331710.5	+	4	696	c.357G>A	c.(355-357)gtG>gtA	p.V119V		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGCGAGATGTGGGTATGTTTG	0.284																																							0											0													106.0	105.0	105.0					12																	64858242		2203	4300	6503	SO:0001630	splice_region_variant	0			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.358+1G>A	12.37:g.64858242G>A			A8K4S4|Q8IYV3|Q9NUJ5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V119	ENST00000331710.5	37	c.357	CCDS8968.1	12																																																																																			0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.284	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	protein_coding	OTTHUMT00000401130.1	57	215	0	0.00	0	0	G	NM_013254	0	0	Silent	64858242	1	no_errors	ENST00000331710	ensembl	human	known	74_37	silent	64	273	30.85	26.02	29	96	SNP	1	A
CLIP1	6249	genome.wustl.edu	37	12	122861982	122861982	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr12:122861982G>A	ENST00000540338.1	-	2	652	c.611C>T	c.(610-612)tCa>tTa	p.S204L	CLIP1_ENST00000361654.4_Missense_Mutation_p.S204L|CLIP1_ENST00000537178.1_Missense_Mutation_p.S204L|CLIP1_ENST00000302528.7_Missense_Mutation_p.S204L|CLIP1_ENST00000358808.2_Missense_Mutation_p.S204L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	204	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTCTTGATTGAGCCAGCCTC	0.448																																							0											0													151.0	144.0	147.0					12																	122861982		2203	4300	6503	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.611C>T	12.37:g.122861982G>A	ENSP00000439093:p.Ser204Leu		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.S204L	ENST00000540338.1	37	c.611	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.499445	0.96355	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (2);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.74881	2.28	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;1.0;0.93	D;D;D;P	0.97110	0.999;1.0;1.0;0.863	D	0.86701	0.1929	10	0.59425	D	0.04	-7.3722	20.0912	0.97820	0.0:0.0:1.0:0.0	.	204;204;204;204	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	L	204;204;49;204;204;204;204	ENSP00000303585:S204L;ENSP00000351665:S204L;ENSP00000445531:S204L;ENSP00000439093:S204L;ENSP00000437786:S204L;ENSP00000441409:S204L	ENSP00000303585:S204L	S	-	2	0	CLIP1	121427935	1.000000	0.71417	0.963000	0.40424	0.995000	0.86356	9.612000	0.98347	2.746000	0.94184	0.591000	0.81541	TCA	0	superfamily_CAP-Gly_domain		0.448	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	protein_coding	OTTHUMT00000401625.1	92	207	0	0.48	0	1	G	NM_002956	0	0		122861982	-1	no_errors	ENST00000540338	ensembl	human	known	74_37	missense	61	211	27.38	28.86	23	86	SNP	1	A
PPP4R4	57718	genome.wustl.edu	37	14	94707027	94707027	+	Missense_Mutation	SNP	A	A	G			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr14:94707027A>G	ENST00000304338.3	+	9	1025	c.871A>G	c.(871-873)Ata>Gta	p.I291V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	291					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAGTCAAACTATACTTCCCTT	0.308																																							0											0													54.0	56.0	55.0					14																	94707027		2201	4291	6492	SO:0001583	missense	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.871A>G	14.37:g.94707027A>G	ENSP00000305924:p.Ile291Val		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.I291V	ENST00000304338.3	37	c.871	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	A	9.637	1.137848	0.21123	.	.	ENSG00000119698	ENST00000304338	T	0.34072	1.38	5.26	1.69	0.24217	Armadillo-like helical (1);Armadillo-type fold (1);	0.280006	0.40469	N	0.001099	T	0.16128	0.0388	N	0.17082	0.46	0.80722	D	1	B	0.13594	0.008	B	0.12837	0.008	T	0.14035	-1.0487	10	0.06236	T	0.91	-13.6019	6.7315	0.23385	0.5556:0.0:0.4444:0.0	.	291	Q6NUP7	PP4R4_HUMAN	V	291	ENSP00000305924:I291V	ENSP00000305924:I291V	I	+	1	0	PPP4R4	93776780	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.542000	0.36137	0.405000	0.25532	0.482000	0.46254	ATA	0	superfamily_ARM-type_fold		0.308	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	protein_coding	OTTHUMT00000413056.1	39	136	0	0.00	0	0	A	NM_058237	0	0		94707027	1	no_errors	ENST00000304338	ensembl	human	known	74_37	missense	48	187	29.41	32.62	20	91	SNP	1	G
SDK2	54549	genome.wustl.edu	37	17	71394219	71394219	+	Silent	SNP	C	C	T	rs561159742	byFrequency	TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr17:71394219C>T	ENST00000392650.3	-	24	3309	c.3309G>A	c.(3307-3309)gtG>gtA	p.V1103V	SDK2_ENST00000388726.3_Silent_p.V1103V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1103	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGCGCAGAGACACATTGGCTG	0.632																																							0											0													30.0	33.0	32.0					17																	71394219		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3309G>A	17.37:g.71394219C>T			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1103	ENST00000392650.3	37	c.3309	CCDS45769.1	17																																																																																			0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	89	45	1.11	0.00	1	0	C	NM_019064	0	0		71394219	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	silent	81	47	25.69	28.79	28	19	SNP	1	T
ZNF519	162655	genome.wustl.edu	37	18	14106162	14106162	+	Missense_Mutation	SNP	T	T	C			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr18:14106162T>C	ENST00000590202.1	-	3	529	c.377A>G	c.(376-378)aAg>aGg	p.K126R	ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	126					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTGAGGCTTCTTCTGAAATAT	0.303																																							0											0													63.0	64.0	64.0					18																	14106162		2203	4298	6501	SO:0001583	missense	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.377A>G	18.37:g.14106162T>C	ENSP00000464872:p.Lys126Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K126R	ENST00000590202.1	37	c.377	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	T	1.372	-0.585907	0.03827	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.782	-1.56	0.08532	.	.	.	.	.	T	0.12050	0.0293	N	0.11789	0.175	0.09310	N	1	B	0.33345	0.409	B	0.30646	0.118	T	0.28235	-1.0050	8	0.14656	T	0.56	.	4.1708	0.10329	0.0:0.5219:0.0:0.4781	.	126	Q8TB69	ZN519_HUMAN	R	126	.	ENSP00000307908:K126R	K	-	2	0	ZNF519	14096162	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	1.170000	0.31883	-0.717000	0.04955	-0.595000	0.04109	AAG	0	NULL		0.303	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	protein_coding	OTTHUMT00000459037.1	33	172	0	0.58	0	1	T	NM_145287	0	0		14106162	-1	no_errors	ENST00000590202	ensembl	human	known	74_37	missense	63	232	32.98	31.96	31	109	SNP	0	C
MYO9B	4650	genome.wustl.edu	37	19	17295734	17295734	+	Missense_Mutation	SNP	A	A	G			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr19:17295734A>G	ENST00000594824.1	+	17	2581	c.2434A>G	c.(2434-2436)Acc>Gcc	p.T812A	MYO9B_ENST00000397274.2_Missense_Mutation_p.T812A|MYO9B_ENST00000595618.1_Missense_Mutation_p.T812A			Q13459	MYO9B_HUMAN	myosin IXB	812	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGACCGCACCACCAAGTCCCT	0.582																																							0											0													133.0	145.0	141.0					19																	17295734		2142	4260	6402	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2434A>G	19.37:g.17295734A>G	ENSP00000471367:p.Thr812Ala		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.T812A	ENST00000594824.1	37	c.2434		19	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327041	0.81690	.	.	ENSG00000099331	ENST00000397274	D	0.86627	-2.15	5.12	5.12	0.69794	Myosin head, motor domain (2);	0.000000	0.56097	D	0.000023	D	0.91372	0.7278	L	0.55834	1.745	0.52501	D	0.999954	D;D;D	0.89917	0.983;0.983;1.0	D;D;D	0.91635	0.962;0.962;0.999	D	0.91711	0.5381	10	0.54805	T	0.06	.	14.1332	0.65268	1.0:0.0:0.0:0.0	.	812;812;818	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	A	812	ENSP00000380444:T812A	ENSP00000380444:T812A	T	+	1	0	MYO9B	17156734	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	9.156000	0.94705	1.941000	0.56285	0.459000	0.35465	ACC	0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.582	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	protein_coding	OTTHUMT00000463236.1	39	127	0	0.00	0	0	A		0	0		17295734	1	no_errors	ENST00000594824	ensembl	human	known	74_37	missense	25	117	19.35	33.15	6	59	SNP	1	G
TPTE	7179	genome.wustl.edu	37	21	10910352	10910352	+	Silent	SNP	G	G	A	rs141834444		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr21:10910352G>A	ENST00000361285.4	-	22	1733	c.1404C>T	c.(1402-1404)gaC>gaT	p.D468D	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.D430D|TPTE_ENST00000298232.7_Silent_p.D450D	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	468	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAGGTAGACCGTCGAATACAT	0.338																																							0											0								G	,,	1,4405		0,1,2202	247.0	227.0	234.0		1350,1290,1404	-2.5	0.0	21	dbSNP_134	234	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	450/534,430/514,468/552	10910352	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1404C>T	21.37:g.10910352G>A			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D468	ENST00000361285.4	37	c.1404	CCDS13560.2	21																																																																																			0	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	protein_coding	OTTHUMT00000157413.1	99	116	0	0.00	0	0	G		rs141834444	G->A		10910352	-1	no_errors	ENST00000361285	ensembl	human	known	74_37	silent	143	219	15.79	10.57	27	26	SNP	0	A
C11orf95	65998	genome.wustl.edu	37	11	63533335	63533337	+	lincRNA	DEL	TCC	TCC	-	rs373116664		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	TCC	TCC	TCC	-	TCC	TCC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr11:63533335_63533337delTCC	ENST00000546282.2	-	0	738				C11orf95_ENST00000433688.1_lincRNA																							ctcctcttcttcctcctcctcct	0.67																																							0											0										177,2927		13,151,1388						-8.9	0.0			19	448,6300		26,396,2952	no	coding	C11orf95	NM_001144936.1		39,547,4340	A1A1,A1R,RR		6.639,5.7023,6.3439				625,9227						0																															11.37:g.63533344_63533346delTCC				RNA	DEL	0	NULL	ENST00000546282.2	37	NULL		11																																																																																			0	0		0.670	RP11-466C23.4-001	KNOWN	basic	lincRNA	C11orf95	lincRNA	OTTHUMT00000396567.2	24	68	0	1.45	0	1	TCC		0	0		63533337	-1	no_errors	ENST00000338498	ensembl	human	known	74_37	rna	24	107	7.69	4.46	2	5	DEL	0.630:0.736:0.723	0
KIAA0430	9665	genome.wustl.edu	37	16	15696492	15696493	+	Intron	INS	-	-	G	rs61282123|rs75196653		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr16:15696492_15696493insG	ENST00000396368.3	-	23	4620				KIAA0430_ENST00000602337.1_Intron|KIAA0430_ENST00000551742.1_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000547936.1_Intron|KIAA0430_ENST00000344181.3_Frame_Shift_Ins_p.L1109fs|KIAA0430_ENST00000548025.1_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ggaaagaaggaagaggagaaag	0.421																																							0											0																																										SO:0001627	intron_variant	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4414-432->C	16.37:g.15696492_15696493insG			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Ins	INS	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P1110fs	ENST00000396368.3	37	c.3327_3326	CCDS10562.2	16																																																																																			0	NULL		0.421	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	protein_coding	OTTHUMT00000252131.2	18	48	0	0.00	0	0	0	NM_014647	rs61282123	A->AG,AGGCAGAGAGGAAAGAAGGA,AGGGAGGCAGAGAGGAAAGAAGGA		15696493	-1	no_errors	ENST00000344181	ensembl	human	known	74_37	frame_shift_ins	47	115	12.96	4.96	7	6	INS	0.001:0.000	G
KIAA0430	9665	genome.wustl.edu	37	16	15696497	15696498	+	Intron	INS	-	-	C	rs370453498|rs546564067|rs528582430	byFrequency	TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr16:15696497_15696498insC	ENST00000396368.3	-	23	4620				KIAA0430_ENST00000602337.1_Intron|KIAA0430_ENST00000551742.1_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000547936.1_Intron|KIAA0430_ENST00000344181.3_Frame_Shift_Ins_p.P1108fs|KIAA0430_ENST00000548025.1_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						gaaggaagaggagaaagaaAAG	0.431																																							0											0																																										SO:0001627	intron_variant	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4414-437->G	16.37:g.15696497_15696498insC			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Ins	INS	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P1107fs	ENST00000396368.3	37	c.3322_3321	CCDS10562.2	16																																																																																			0	NULL		0.431	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	protein_coding	OTTHUMT00000252131.2	19	55	0	0.00	0	0	0	NM_014647	rs370453498	G->GC		15696498	-1	no_errors	ENST00000344181	ensembl	human	known	74_37	frame_shift_ins	40	118	14.89	4.84	7	6	INS	0.001:0.000	C
HMGB1P5	10354	genome.wustl.edu	37	3	22423465	22423465	+	RNA	SNP	G	G	T			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr3:22423465G>T	ENST00000451497.1	+	0	30									high mobility group box 1 pseudogene 5																		GGAAGACCATGTCTGCTAAAG	0.443																																							0											0																																												0			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22423465G>T				RNA	SNP	0	NULL	ENST00000451497.1	37	NULL		3																																																																																			0	0		0.443	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	pseudogene	OTTHUMT00000340803.1	47	0	0	0.00	0	0	G	NG_000897	0	0		22423465	1	no_errors	ENST00000451497	ensembl	human	known	74_37	rna	76	0	7.32	0.00	6	0	SNP	1	T
FNBP4	23360	genome.wustl.edu	37	11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cctcca>cca	p.914_915PP>P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						tggtggtggtggaggaggaggag	0.458																																							0											1	Substitution - coding silent(1)	endometrium(1)								3,75,3660		0,0,3,5,65,1796						-0.3	0.9			14	11,190,7695		0,0,11,2,186,3749	no	codingComplex	FNBP4	NM_015308.2		0,0,14,7,251,5545	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5456,2.0867,2.3981				14,265,11355				SO:0001651	inframe_deletion	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2742_2744delTCC	11.37:g.47744598_47744600delGGA	ENSP00000263773:p.Pro918del		Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P918in_frame_del	ENST00000263773.5	37	c.2744_2742	CCDS41644.1	11																																																																																			0	NULL		0.458	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	protein_coding	OTTHUMT00000390237.3	50	4	0	0.00	0	0	GGA		0	0		47744591	-1	no_errors	ENST00000263773	ensembl	human	known	74_37	in_frame_del	35	4	12.5	0.00	5	0	DEL	0.925:0.888:0.174	0
ATRN	8455	genome.wustl.edu	37	20	3451967	3451969	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr20:3451967_3451969delGCT	ENST00000262919.5	+	1	281_283	c.213_215delGCT	c.(211-216)ccgctg>ccg	p.L77del	ATRN_ENST00000446916.2_In_Frame_Del_p.L77del	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	77	Leu-rich.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						tctcgccgccgctgctgctgctg	0.764																																							0											0									,,	17,913		5,7,453					,,	-0.9	0.0			1	76,1972		27,22,975	no	coding,coding,intron	ATRN	NM_139322.2,NM_139321.2,NM_001207047.1	,,	32,29,1428	A1A1,A1R,RR		3.7109,1.828,3.1229	,,	,,		93,2885				SO:0001651	inframe_deletion	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.213_215delGCT	20.37:g.3451976_3451978delGCT	ENSP00000262919:p.Leu77del		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	In_Frame_Del	DEL	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.L75in_frame_del	ENST00000262919.5	37	c.213_215	CCDS13053.1	20																																																																																			0	NULL		0.764	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	protein_coding	OTTHUMT00000077740.2	10	3	0	0.00	0	0	GCT	NM_139321	0	0		3451969	1	no_errors	ENST00000262919	ensembl	human	known	74_37	in_frame_del	4	6	33.33	0.00	2	0	DEL	0.487:0.505:0.496	0
