#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
LUZP1	7798	genome.wustl.edu	37	1	23420652	23420652	+	Missense_Mutation	SNP	T	T	C	rs533244242		TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr1:23420652T>C	ENST00000302291.4	-	4	904	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	LUZP1_ENST00000314174.5_Missense_Mutation_p.K35E|LUZP1_ENST00000418342.1_Missense_Mutation_p.K35E|LUZP1_ENST00000374623.3_Missense_Mutation_p.K35E			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	35					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGGAGGTTTTTTGTGGCTTCC	0.527													T|||	1	0.000199681	0.0	0.0	5008	,	,		17910	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997											0													93.0	95.0	94.0					1																	23420652		2203	4300	6503	SO:0001583	missense	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.103A>G	1.37:g.23420652T>C	ENSP00000303758:p.Lys35Glu		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.K35E	ENST00000302291.4	37	c.103	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527730	0.44969	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849;ENST00000475164	T;T;T;T;T	0.47177	2.42;2.42;2.42;2.2;0.85	5.88	5.88	0.94601	.	0.000000	0.51477	D	0.000083	T	0.48040	0.1478	M	0.66939	2.045	0.28089	N	0.931869	P;P	0.41848	0.763;0.763	B;B	0.37144	0.242;0.242	T	0.57242	-0.7845	10	0.72032	D	0.01	.	15.4637	0.75381	0.0:0.0:0.0:1.0	.	35;35	Q86V48-2;Q86V48	.;LUZP1_HUMAN	E	35	ENSP00000393460:K35E;ENSP00000363752:K35E;ENSP00000303758:K35E;ENSP00000313705:K35E;ENSP00000428061:K35E	ENSP00000303758:K35E	K	-	1	0	LUZP1	23293239	1.000000	0.71417	0.978000	0.43139	0.975000	0.68041	4.801000	0.62532	2.253000	0.74438	0.454000	0.30748	AAA	0	NULL		0.527	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	protein_coding	OTTHUMT00000008900.3	73	238	0	0.00	0	0	T	NM_033631	rs533244242	T->C		23420652	-1	no_errors	ENST00000302291	ensembl	human	known	74_37	missense	29	147	43.14	31.80	22	69	SNP	0.955	C
HAO2	51179	genome.wustl.edu	37	1	119934843	119934843	+	Silent	SNP	T	T	C			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr1:119934843T>C	ENST00000325945.3	+	6	955	c.882T>C	c.(880-882)gcT>gcC	p.A294A	HAO2_ENST00000361035.4_Silent_p.A307A	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	294	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.			LGA -> HED (in Ref. 2; AAF14000). {ECO:0000305}.	fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CCCTTGGAGCTAAGTGCATTT	0.502																																							0											0													143.0	133.0	136.0					1																	119934843		2203	4300	6503	SO:0001819	synonymous_variant	0			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.882T>C	1.37:g.119934843T>C			Q2TU86|Q5QP00|Q9UJS6	Silent	SNP	pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.A307	ENST00000325945.3	37	c.921	CCDS901.1	1																																																																																			0	pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN		0.502	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO2	protein_coding	OTTHUMT00000034984.1	50	197	0	0.00	0	0	T	NM_001005783	0	0		119934843	1	no_errors	ENST00000361035	ensembl	human	known	74_37	silent	20	148	35.48	31.16	11	67	SNP	0.119	C
SH3YL1	26751	genome.wustl.edu	37	2	231121	231121	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr2:231121C>A	ENST00000405430.1	-	9	980	c.604G>T	c.(604-606)Gat>Tat	p.D202Y	SH3YL1_ENST00000403657.1_Missense_Mutation_p.D106Y|SH3YL1_ENST00000403712.2_Missense_Mutation_p.D202Y|SH3YL1_ENST00000403658.1_Missense_Mutation_p.D106Y|SH3YL1_ENST00000415006.2_Missense_Mutation_p.D106Y|SH3YL1_ENST00000356150.5_Missense_Mutation_p.D202Y|SH3YL1_ENST00000468321.1_5'UTR			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	202					phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)			large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TCATAAAGATCTTCGGCTTGA	0.353																																							0											0													105.0	99.0	101.0					2																	231121		1867	4091	5958	SO:0001583	missense	0				CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"""SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"""			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.604G>T	2.37:g.231121C>A	ENSP00000384269:p.Asp202Tyr		A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Missense_Mutation	SNP	pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.D202Y	ENST00000405430.1	37	c.604		2	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050752	0.55218	.	.	ENSG00000035115	ENST00000415006;ENST00000403712;ENST00000403657;ENST00000405430;ENST00000356150;ENST00000403658;ENST00000451005;ENST00000431160	T;T;T;T;T;T;T	0.28666	2.05;2.03;2.03;1.9;1.9;2.03;1.6	4.99	4.99	0.66335	Ysc84 actin-binding domain (1);	0.235219	0.34828	N	0.003648	T	0.48352	0.1495	L	0.48642	1.525	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.983;0.998;0.997	D;P;D;D	0.68943	0.956;0.894;0.961;0.935	T	0.49485	-0.8935	10	0.87932	D	0	-7.794	15.7984	0.78433	0.0:1.0:0.0:0.0	.	106;202;202;106	Q96HL8-4;Q96HL8-2;Q96HL8;Q96HL8-3	.;.;SH3Y1_HUMAN;.	Y	106;202;106;202;202;106;134;158	ENSP00000404143:D106Y;ENSP00000384276:D202Y;ENSP00000385668:D106Y;ENSP00000384269:D202Y;ENSP00000348471:D202Y;ENSP00000383928:D106Y;ENSP00000416312:D134Y	ENSP00000348471:D202Y	D	-	1	0	SH3YL1	221121	1.000000	0.71417	0.935000	0.37517	0.427000	0.31564	3.359000	0.52292	2.310000	0.77875	0.557000	0.71058	GAT	0	pfam_Ysc84_actin-binding		0.353	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SH3YL1	protein_coding	OTTHUMT00000322352.1	126	227	0	0.00	0	0	C	NM_015677	0	0		231121	-1	no_errors	ENST00000356150	ensembl	human	known	74_37	missense	69	195	34.29	24.14	36	63	SNP	0.999	A
BUB1	699	genome.wustl.edu	37	2	111419226	111419226	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr2:111419226G>A	ENST00000302759.6	-	10	1268	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	BUB1_ENST00000409311.1_Missense_Mutation_p.P384S|BUB1_ENST00000535254.1_Missense_Mutation_p.P364S	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	384					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGAACAGGAGGAGCAATGCTC	0.507																																							0											0													108.0	101.0	103.0					2																	111419226		2203	4300	6503	SO:0001583	missense	0			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1150C>T	2.37:g.111419226G>A	ENSP00000302530:p.Pro384Ser		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.P384S	ENST00000302759.6	37	c.1150	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	G	9.775	1.173863	0.21704	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.28666	2.34;1.6;2.61	4.98	2.18	0.27775	.	1.131040	0.06249	N	0.691700	T	0.14013	0.0339	N	0.19112	0.55	0.09310	N	1	B;B;P	0.35656	0.257;0.304;0.514	B;B;B	0.24701	0.051;0.033;0.055	T	0.12268	-1.0554	10	0.07175	T	0.84	-0.6958	4.7411	0.13013	0.1908:0.1798:0.6294:0.0	.	364;384;384	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	S	364;384;384;384	ENSP00000441013:P364S;ENSP00000386701:P384S;ENSP00000302530:P384S	ENSP00000302530:P384S	P	-	1	0	BUB1	111135699	0.003000	0.15002	0.002000	0.10522	0.331000	0.28603	0.711000	0.25764	0.790000	0.33803	0.555000	0.69702	CCT	0	NULL		0.507	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	protein_coding	OTTHUMT00000331925.1	53	167	0	0.00	0	0	G	NM_004336	0	0		111419226	-1	no_errors	ENST00000302759	ensembl	human	known	74_37	missense	26	92	23.53	36.11	8	52	SNP	0.001	A
NISCH	11188	genome.wustl.edu	37	3	52524090	52524090	+	Splice_Site	SNP	G	G	T			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr3:52524090G>T	ENST00000479054.1	+	19	3528		c.e19-1		NISCH_ENST00000345716.4_Splice_Site			Q9Y2I1	NISCH_HUMAN	nischarin						actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCGTCTTCAGGTTGAAAACG	0.607																																							0											0													66.0	53.0	58.0					3																	52524090		2203	4300	6503	SO:0001630	splice_region_variant	0			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3457-1G>T	3.37:g.52524090G>T			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Splice_Site	SNP	0	e18-1	ENST00000479054.1	37	c.3457-1	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792313	0.50102	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6842	0.91558	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NISCH	52499130	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	8.666000	0.91149	2.432000	0.82394	0.561000	0.74099	.	0	0		0.607	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	protein_coding	OTTHUMT00000351357.1	45	193	0	0.52	0	1	G	NM_007184	0	0	Intron	52524090	1	no_errors	ENST00000345716	ensembl	human	known	74_37	splice_site	11	70	47.62	42.62	10	52	SNP	1	T
ZNF827	152485	genome.wustl.edu	37	4	146791434	146791434	+	Silent	SNP	T	T	G			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr4:146791434T>G	ENST00000508784.1	-	5	2171	c.1944A>C	c.(1942-1944)tcA>tcC	p.S648S	ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Silent_p.S298S|ZNF827_ENST00000379448.4_Silent_p.S648S			Q17R98	ZN827_HUMAN	zinc finger protein 827	648					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTGCTTTGACTGACACATCCC	0.488																																							0											0													110.0	98.0	102.0					4																	146791434		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1944A>C	4.37:g.146791434T>G			B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S648	ENST00000508784.1	37	c.1944		4																																																																																			0	NULL		0.488	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	protein_coding	OTTHUMT00000364654.2	55	211	0	0.00	0	0	T	NM_178835	0	0		146791434	-1	no_errors	ENST00000508784	ensembl	human	known	74_37	silent	39	199	9.3	25.47	4	68	SNP	0.904	G
NSD1	64324	genome.wustl.edu	37	5	176637651	176637651	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr5:176637651C>T	ENST00000439151.2	+	5	2296	c.2251C>T	c.(2251-2253)Ctc>Ttc	p.L751F	NSD1_ENST00000347982.4_Missense_Mutation_p.L482F|NSD1_ENST00000354179.4_Missense_Mutation_p.L482F|NSD1_ENST00000361032.4_Missense_Mutation_p.L648F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	751					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAATGATGCTCTCTCTCCAAA	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													0		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													81.0	82.0	82.0					5																	176637651		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2251C>T	5.37:g.176637651C>T	ENSP00000395929:p.Leu751Phe		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L751F	ENST00000439151.2	37	c.2251	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	0.165	-1.077209	0.01903	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95588	-3.66;-3.65;-3.66;-3.75	5.0	-0.979	0.10276	.	0.462707	0.20361	N	0.093854	D	0.86426	0.5930	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18461	0.028;0.005;0.017	B;B;B	0.22386	0.039;0.017;0.01	T	0.74914	-0.3502	9	.	.	.	.	5.3458	0.16008	0.0:0.4691:0.2479:0.2831	.	482;648;751	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	F	482;482;751;482;648	ENSP00000346111:L482F;ENSP00000395929:L751F;ENSP00000343209:L482F;ENSP00000354310:L648F	.	L	+	1	0	NSD1	176570257	0.717000	0.27966	0.000000	0.03702	0.001000	0.01503	0.489000	0.22387	-0.314000	0.08716	-0.744000	0.03518	CTC	0	NULL		0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	protein_coding	OTTHUMT00000253412.2	45	191	0	0.00	0	0	C	NM_172349	0	0		176637651	1	no_errors	ENST00000439151	ensembl	human	known	74_37	missense	33	150	23.26	27.88	10	58	SNP	0.002	T
C5orf60	285679	genome.wustl.edu	37	5	179069370	179069370	+	Silent	SNP	G	G	A			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr5:179069370G>A	ENST00000448248.2	-	5	829	c.804C>T	c.(802-804)tcC>tcT	p.S268S	C5orf60_ENST00000506142.1_5'Flank	NM_001142306.1	NP_001135778.1	A6NFR6	CE060_HUMAN	chromosome 5 open reading frame 60	0						integral component of membrane (GO:0016021)				NS(1)|breast(1)|kidney(5)	7						CGTGGATGTCGGATATTCGGT	0.547																																							0											0													114.0	107.0	109.0					5																	179069370		692	1591	2283	SO:0001819	synonymous_variant	0			BC043435	CCDS47353.1	5q35.3	2010-08-19			ENSG00000204661	ENSG00000204661			27753	protein-coding gene	gene with protein product						12477932	Standard	NM_001142306		Approved		uc003mki.3	A6NFR6	OTTHUMG00000163221	ENST00000448248.2:c.804C>T	5.37:g.179069370G>A			A1L488|B7ZM52|B7ZM53	Silent	SNP	NULL	p.S268	ENST00000448248.2	37	c.804	CCDS47353.1	5																																																																																			0	NULL		0.547	C5orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf60	protein_coding	OTTHUMT00000372148.2	50	168	0	0.00	0	0	G	NM_001142306	0	0		179069370	-1	no_errors	ENST00000448248	ensembl	human	known	74_37	silent	19	156	36.67	26.07	11	55	SNP	0.006	A
SP8	221833	genome.wustl.edu	37	7	20825175	20825175	+	Silent	SNP	A	A	T	rs564509664	byFrequency	TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr7:20825175A>T	ENST00000361443.4	-	3	444	c.207T>A	c.(205-207)gcT>gcA	p.A69A	SP8_ENST00000418710.2_Silent_p.A87A	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	69	Ala-rich.|Ser-rich.				dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						cggccgccgcagccgccgAGG	0.716																																							0											0													7.0	8.0	8.0					7																	20825175		2175	4255	6430	SO:0001819	synonymous_variant	0				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.207T>A	7.37:g.20825175A>T			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1	p.A87	ENST00000361443.4	37	c.261	CCDS5372.1	7																																																																																			0	prints_Antifreeze_1		0.716	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP8	protein_coding	OTTHUMT00000326904.2	23	78	0	0.00	0	0	A		0	0		20825175	-1	no_errors	ENST00000418710	ensembl	human	known	74_37	silent	5	31	44.44	48.33	4	29	SNP	0.884	T
NRG1	3084	genome.wustl.edu	37	8	32621810	32621810	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr8:32621810T>G	ENST00000405005.3	+	12	1813	c.1813T>G	c.(1813-1815)Ttc>Gtc	p.F605V	NRG1_ENST00000519301.1_Missense_Mutation_p.F555V|NRG1_ENST00000356819.4_Missense_Mutation_p.F610V|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000338921.4_Missense_Mutation_p.F613V|NRG1_ENST00000287842.3_Missense_Mutation_p.F602V|NRG1_ENST00000287845.5_Missense_Mutation_p.F576V|NRG1_ENST00000539990.1_Missense_Mutation_p.F448V			Q02297	NRG1_HUMAN	neuregulin 1	605					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AACACCTGCCTTCCGCCTGGC	0.527																																							0											0													50.0	56.0	54.0					8																	32621810		2203	4300	6503	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1813T>G	8.37:g.32621810T>G	ENSP00000384620:p.Phe605Val		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.F613V	ENST00000405005.3	37	c.1837	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297702	0.60086	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.95	5.95	0.96441	Neuregulin 1-related, C-terminal (1);	0.178268	0.50627	D	0.000103	T	0.56001	0.1956	N	0.22421	0.69	0.37259	D	0.906912	P;P;P;B;P;P;P	0.50066	0.858;0.915;0.931;0.152;0.915;0.88;0.915	B;P;P;B;P;P;P	0.52454	0.345;0.477;0.699;0.036;0.574;0.699;0.574	T	0.59085	-0.7520	9	.	.	.	-3.9928	16.4101	0.83708	0.0:0.0:0.0:1.0	.	448;576;610;613;602;605;610	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	V	555;678;613;610;605;576;602;605;448	ENSP00000429582:F555V;ENSP00000429067:F678V;ENSP00000343395:F613V;ENSP00000349275:F610V;ENSP00000287840:F605V;ENSP00000287845:F576V;ENSP00000287842:F602V;ENSP00000384620:F605V;ENSP00000439276:F448V	.	F	+	1	0	NRG1	32741352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.544000	0.53640	2.280000	0.76307	0.460000	0.39030	TTC	0	pfam_Neuregulin_1_C		0.527	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	protein_coding	OTTHUMT00000472504.1	78	118	0	0.00	0	0	T		0	0		32621810	1	no_errors	ENST00000338921	ensembl	human	known	74_37	missense	54	92	28	32.85	21	45	SNP	1	G
ZNF487	642819	genome.wustl.edu	37	10	43976897	43976897	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr10:43976897C>G	ENST00000431662.1	+	4	346	c.346C>G	c.(346-348)Ctg>Gtg	p.L116V	ZNF487_ENST00000437590.2_Missense_Mutation_p.L52V			B1APH4	ZN487_HUMAN	zinc finger protein 487	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGATGATGACCTGATGGAGAA	0.313																																							0											0																																										SO:0001583	missense	0					10q11.21	2013-06-03	2013-03-06	2013-03-06	ENSG00000243660	ENSG00000243660			23488	other	unknown			"""KRAB domain only 1"", ""zinc finger protein 487, pseudogene"""	KRBO1, ZNF487P			Standard	NR_026693		Approved			B1APH4	OTTHUMG00000185507	ENST00000431662.1:c.346C>G	10.37:g.43976897C>G	ENSP00000388421:p.Leu116Val		B1APH5|B7Z7S5	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L116V	ENST00000431662.1	37	c.346		10	.	.	.	.	.	.	.	.	.	.	C	0.957	-0.704458	0.03255	.	.	ENSG00000243660	ENST00000431662;ENST00000455398;ENST00000456416;ENST00000442349;ENST00000437590	T;T;T	0.20200	3.67;2.09;6.68	1.67	0.684	0.18003	.	.	.	.	.	T	0.08846	0.0219	.	.	.	0.09310	N	1	P	0.40794	0.729	B	0.36922	0.236	T	0.16778	-1.0391	8	0.15066	T	0.55	.	2.2071	0.03938	0.3123:0.4994:0.0:0.1884	.	52	B7Z7S5	.	V	116;52;20;52;52	ENSP00000388421:L116V;ENSP00000395343:L20V;ENSP00000392335:L52V	ENSP00000388421:L116V	L	+	1	2	ZNF487P	43296903	0.263000	0.24083	0.971000	0.41717	0.536000	0.34869	0.213000	0.17521	0.241000	0.21283	0.461000	0.40582	CTG	0	NULL		0.313	ZNF487-201	KNOWN	basic|appris_principal	protein_coding	ZNF487	protein_coding		124	306	0	0.00	0	0	C	XM_926224	0	0		43976897	1	no_errors	ENST00000431662	ensembl	human	known	74_37	missense	83	212	31.4	28.86	38	86	SNP	0.348	G
ANTXRL	195977	genome.wustl.edu	37	10	47669104	47669104	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr10:47669104C>G	ENST00000447511.2	+	8	957	c.692C>G	c.(691-693)gCa>gGa	p.A231G	ANTXRL_ENST00000537271.1_Missense_Mutation_p.A231G	NM_001278688.1	NP_001265617.1	A6NF34	ANTRL_HUMAN	anthrax toxin receptor-like	231	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)										CACGTGTTTGCAGTGGAGAAT	0.597																																							0											0																																										SO:0001583	missense	0				CCDS60524.1	10q11.22	2014-04-11			ENSG00000198250	ENSG00000274209			27277	protein-coding gene	gene with protein product							Standard	NM_001278688		Approved			A6NF34	OTTHUMG00000188318	ENST00000447511.2:c.692C>G	10.37:g.47669104C>G	ENSP00000455449:p.Ala231Gly		H3BPS2	Missense_Mutation	SNP	pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A231G	ENST00000447511.2	37	c.692		10																																																																																			0	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.597	ANTXRL-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	ANTXRL	protein_coding	OTTHUMT00000047862.2	23	61	0	0.00	0	0	C	XM_113625	0	0		47669104	1	no_errors	ENST00000537271	ensembl	human	known	74_37	missense	8	41	46.67	32.79	7	20	SNP	0	G
PTPRE	5791	genome.wustl.edu	37	10	129869096	129869096	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr10:129869096A>T	ENST00000254667.3	+	15	1597	c.1318A>T	c.(1318-1320)Aag>Tag	p.K440*	PTPRE_ENST00000419012.2_Nonsense_Mutation_p.K440*|PTPRE_ENST00000306042.5_Nonsense_Mutation_p.K382*	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	440	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CCGGATCATGAAGGAGAACAT	0.527																																					Colon(52;977 1184 20575 41685)		0											0													82.0	72.0	76.0					10																	129869096		2203	4300	6503	SO:0001587	stop_gained	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1318A>T	10.37:g.129869096A>T	ENSP00000254667:p.Lys440*		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Nonsense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K440*	ENST00000254667.3	37	c.1318	CCDS7657.1	10	.	.	.	.	.	.	.	.	.	.	A	38	6.717669	0.97784	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	14.0255	0.64584	1.0:0.0:0.0:0.0	.	.	.	.	X	440;418;440;382	.	ENSP00000254667:K440X	K	+	1	0	PTPRE	129759086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.072000	0.93986	1.896000	0.54893	0.528000	0.53228	AAG	0	pirsf_Tyr_Pase_rcpt_a/e-type,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.527	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	protein_coding	OTTHUMT00000050990.1	41	173	0	0.00	0	0	A		0	0		129869096	1	no_errors	ENST00000254667	ensembl	human	known	74_37	nonsense	19	107	40.62	36.69	13	62	SNP	1	T
SLC22A9	114571	genome.wustl.edu	37	11	63137596	63137596	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr11:63137596T>C	ENST00000279178.3	+	1	317	c.68T>C	c.(67-69)tTt>tCt	p.F23S	SLC22A9_ENST00000310969.4_Missense_Mutation_p.F23S	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	23					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CAGACTGTTTTTCTCTCAATC	0.483																																							0											0													162.0	161.0	161.0					11																	63137596		2201	4298	6499	SO:0001583	missense	0			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.68T>C	11.37:g.63137596T>C	ENSP00000279178:p.Phe23Ser		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F23S	ENST00000279178.3	37	c.68	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	T	10.80	1.452088	0.26074	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.34667	1.35;1.35	3.48	2.31	0.28768	.	0.121524	0.56097	D	0.000027	T	0.41328	0.1154	M	0.84219	2.685	0.09310	N	1	P	0.45986	0.87	B	0.43194	0.411	T	0.38908	-0.9639	10	0.62326	D	0.03	.	8.2531	0.31739	0.0:0.0:0.2024:0.7976	.	23	Q8IVM8	S22A9_HUMAN	S	23	ENSP00000311527:F23S;ENSP00000279178:F23S	ENSP00000279178:F23S	F	+	2	0	SLC22A9	62894172	0.004000	0.15560	0.011000	0.14972	0.210000	0.24377	0.909000	0.28558	0.555000	0.29079	0.113000	0.15668	TTT	0	NULL		0.483	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	protein_coding	OTTHUMT00000396371.1	26	164	0	0.00	0	0	T	NM_080866	0	0		63137596	1	no_errors	ENST00000279178	ensembl	human	known	74_37	missense	26	127	31.58	28.65	12	51	SNP	0.071	C
SIK3	23387	genome.wustl.edu	37	11	116747729	116747729	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr11:116747729C>G	ENST00000292055.4	-	7	756	c.721G>C	c.(721-723)Gtg>Ctg	p.V241L	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.V299L|SIK3_ENST00000542607.1_Missense_Mutation_p.V241L|SIK3_ENST00000446921.2_Missense_Mutation_p.V299L|SIK3_ENST00000434315.2_Missense_Mutation_p.V140L	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGATCTAACACCAACATATGG	0.547																																							0											0													123.0	102.0	109.0					11																	116747729		2201	4296	6497	SO:0001583	missense	0			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.721G>C	11.37:g.116747729C>G	ENSP00000292055:p.Val241Leu		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.V299L	ENST00000292055.4	37	c.895	CCDS8379.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.710740|4.710740	0.89112|0.89112	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.37304	.|U	.|0.002141	T|T	0.64897|0.64897	0.2640|0.2640	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.53885	.|0.963;0.381;0.963	.|B;B;B	.|0.42087	.|0.375;0.188;0.375	T|T	0.71404|0.71404	-0.4603|-0.4603	5|10	.|0.62326	.|D	.|0.03	.|.	19.2672|19.2672	0.93993|0.93993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|241;140;241	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	A|L	292;263;201|299;241;241;140	.|ENSP00000364449:V299L;ENSP00000292055:V241L;ENSP00000438108:V241L;ENSP00000415873:V140L	.|ENSP00000292055:V241L	G|V	-|-	2|1	0|0	SIK3|SIK3	116252939|116252939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.731000|5.731000	0.68554|0.68554	2.544000|2.544000	0.85801|0.85801	0.655000|0.655000	0.94253|0.94253	GGT|GTG	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		0.547	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	protein_coding		35	144	0	0.00	0	0	C	NM_025164	0	0		116747729	-1	no_errors	ENST00000375300	ensembl	human	known	74_37	missense	17	87	45.45	30.95	15	39	SNP	1	G
NEUROD4	58158	genome.wustl.edu	37	12	55420928	55420928	+	Silent	SNP	G	G	A	rs528788272		TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr12:55420928G>A	ENST00000242994.3	+	2	1083	c.705G>A	c.(703-705)tcG>tcA	p.S235S		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	235					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TGGGAGAATCGTCCTTTGGGA	0.517																																							0											0													99.0	100.0	100.0					12																	55420928		2203	4300	6503	SO:0001819	synonymous_variant	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.705G>A	12.37:g.55420928G>A			B2RAC9	Silent	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.S235	ENST00000242994.3	37	c.705	CCDS8886.1	12																																																																																			0	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD		0.517	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	protein_coding	OTTHUMT00000406104.1	45	276	0	0.36	0	1	G		rs528788272	G->A		55420928	1	no_errors	ENST00000242994	ensembl	human	known	74_37	silent	21	155	25	32.61	7	75	SNP	0.364	A
WIF1	11197	genome.wustl.edu	37	12	65462615	65462615	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr12:65462615A>G	ENST00000286574.4	-	4	841	c.467T>C	c.(466-468)gTt>gCt	p.V156A		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	156	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AGAATTCATAACAATCACATC	0.388			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)		0		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0													170.0	153.0	159.0					12																	65462615		2203	4300	6503	SO:0001583	missense	0			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.467T>C	12.37:g.65462615A>G	ENSP00000286574:p.Val156Ala		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.V156A	ENST00000286574.4	37	c.467	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229743	0.79688	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.53640	0.61;0.61	5.51	5.51	0.81932	WIF domain (4);	0.066782	0.64402	D	0.000020	T	0.44350	0.1289	L	0.29908	0.895	0.48830	D	0.999714	P	0.44946	0.846	P	0.46758	0.526	T	0.26258	-1.0108	9	.	.	.	.	15.9238	0.79597	1.0:0.0:0.0:0.0	.	156	Q9Y5W5	WIF1_HUMAN	A	156;94	ENSP00000286574:V156A;ENSP00000442063:V94A	.	V	-	2	0	WIF1	63748882	1.000000	0.71417	0.993000	0.49108	0.884000	0.51177	7.724000	0.84798	2.226000	0.72624	0.533000	0.62120	GTT	0	pfam_WIF,smart_WIF,pfscan_WIF		0.388	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	protein_coding	OTTHUMT00000401258.2	69	275	0	0.00	0	0	A		0	0		65462615	-1	no_errors	ENST00000286574	ensembl	human	known	74_37	missense	38	206	28.3	28.12	15	81	SNP	0.996	G
MGA	23269	genome.wustl.edu	37	15	41991097	41991097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr15:41991097G>T	ENST00000570161.1	+	3	2050	c.2050G>T	c.(2050-2052)Gaa>Taa	p.E684*	MGA_ENST00000219905.7_Nonsense_Mutation_p.E684*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E684*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E684*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E684*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGACAACAGAAGAATCTTC	0.328																																							0											0													30.0	29.0	29.0					15																	41991097		1734	3866	5600	SO:0001587	stop_gained	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2050G>T	15.37:g.41991097G>T	ENSP00000457035:p.Glu684*		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E684*	ENST00000570161.1	37	c.2050	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.735479	0.98459	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.14	5.14	0.70334	.	2.831950	0.00802	N	0.001429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	9.6886	0.40114	0.0946:0.0:0.9054:0.0	.	.	.	.	X	684	.	ENSP00000219905:E684X	E	+	1	0	MGA	39778389	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.908000	0.63307	2.404000	0.81709	0.561000	0.74099	GAA	0	NULL		0.328	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	58	146	0	0.00	0	0	G	NM_001164273.1	0	0		41991097	1	no_errors	ENST00000219905	ensembl	human	known	74_37	nonsense	35	110	30	30.19	15	48	SNP	0.956	T
PCSK6	5046	genome.wustl.edu	37	15	101971525	101971525	+	Splice_Site	SNP	A	A	G			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr15:101971525A>G	ENST00000348070.1	-	5	653	c.654T>C	c.(652-654)taT>taC	p.Y218Y	PCSK6_ENST00000358417.3_Splice_Site_p.Y218Y|PCSK6_ENST00000398181.2_Splice_Site_p.Y218Y|PCSK6_ENST00000331826.7_Splice_Site_p.Y53Y|PCSK6_ENST00000344273.2_Splice_Site_p.Y218Y|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	219	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTGACTTACATAATTTGGGG	0.468																																							0											0													111.0	107.0	108.0					15																	101971525		1942	4152	6094	SO:0001630	splice_region_variant	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.654+1T>C	15.37:g.101971525A>G			Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.Y218	ENST00000348070.1	37	c.654		15																																																																																			0	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom		0.468	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	protein_coding		89	240	0	0.00	0	0	A	NM_002570	0	0	Silent	101971525	-1	no_errors	ENST00000348070	ensembl	human	known	74_37	silent	31	163	40.38	28.19	21	64	SNP	0.937	G
SRRM2	23524	genome.wustl.edu	37	16	2815546	2815546	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr16:2815546A>G	ENST00000301740.8	+	11	5566	c.5017A>G	c.(5017-5019)Agg>Ggg	p.R1673G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1673	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGAGGTTCCAGGTCATCACC	0.562																																							0											0													97.0	79.0	85.0					16																	2815546		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5017A>G	16.37:g.2815546A>G	ENSP00000301740:p.Arg1673Gly		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1673G	ENST00000301740.8	37	c.5017	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	A	9.256	1.041870	0.19748	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.38560	1.13	5.47	3.12	0.35913	.	0.000000	0.64402	D	0.000003	T	0.38983	0.1061	N	0.08118	0	0.30055	N	0.811458	D	0.57899	0.981	D	0.69824	0.966	T	0.34800	-0.9814	10	0.36615	T	0.2	-10.704	9.6282	0.39763	0.6589:0.3411:0.0:0.0	.	1673	Q9UQ35	SRRM2_HUMAN	G	1673;1673;925	ENSP00000301740:R1673G	ENSP00000301740:R1673G	R	+	1	2	SRRM2	2755547	0.800000	0.28916	0.999000	0.59377	0.991000	0.79684	1.141000	0.31528	0.324000	0.23333	0.533000	0.62120	AGG	0	NULL		0.562	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	22	194	0	0.51	0	1	A		0	0		2815546	1	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	14	134	21.05	25.97	4	47	SNP	1	G
ZNF431	170959	genome.wustl.edu	37	19	21365735	21365735	+	Missense_Mutation	SNP	G	G	A	rs537787342		TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr19:21365735G>A	ENST00000311048.7	+	5	773	c.629G>A	c.(628-630)gGc>gAc	p.G210D	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	210					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AAAAAATGTGGCAAATCATTT	0.294													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20803	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													37.0	40.0	39.0					19																	21365735		2201	4295	6496	SO:0001583	missense	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.629G>A	19.37:g.21365735G>A	ENSP00000308578:p.Gly210Asp		A8KAK7|Q8IWC4	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.G210D	ENST00000311048.7	37	c.629	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	0.986	-0.695506	0.03279	.	.	ENSG00000196705	ENST00000311048	T	0.20069	2.1	1.0	-0.552	0.11818	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16428	0.0395	L	0.46819	1.47	0.26001	N	0.982114	B	0.21688	0.059	B	0.23275	0.045	T	0.26121	-1.0112	9	0.48119	T	0.1	.	4.826	0.13416	0.3978:0.0:0.6022:0.0	.	210	Q8TF32	ZN431_HUMAN	D	210	ENSP00000308578:G210D	ENSP00000308578:G210D	G	+	2	0	ZNF431	21157575	0.930000	0.31532	0.101000	0.21167	0.132000	0.20833	1.094000	0.30951	-0.483000	0.06772	-0.483000	0.04790	GGC	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.294	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	protein_coding	OTTHUMT00000463943.1	163	40	0	0.00	0	0	G	XM_086098	rs537787342	G->A		21365735	1	no_errors	ENST00000311048	ensembl	human	known	74_37	missense	82	45	28.7	25.00	33	15	SNP	0.998	A
ZNF536	9745	genome.wustl.edu	37	19	30935469	30935469	+	Missense_Mutation	SNP	C	C	T	rs370088671		TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr19:30935469C>T	ENST00000355537.3	+	2	1147	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	334					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGCCAGGGCCCCAACGGCGG	0.657																																							0											0								C	SER/PRO	0,4406		0,0,2203	84.0	96.0	92.0		1000	3.3	1.0	19		92	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF536	NM_014717.1	74	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	334/1301	30935469	1,13003	2203	4299	6502	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1000C>T	19.37:g.30935469C>T	ENSP00000347730:p.Pro334Ser		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P334S	ENST00000355537.3	37	c.1000	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	0.383	-0.927467	0.02377	0.0	1.16E-4	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.59	3.27	0.37495	.	0.234314	0.45361	D	0.000363	T	0.02727	0.0082	N	0.08118	0	0.36153	D	0.847607	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.34104	-0.9842	10	0.02654	T	1	-23.3598	2.4971	0.04624	0.0:0.4193:0.3092:0.2715	.	334;334	A7E228;O15090	.;ZN536_HUMAN	S	334	ENSP00000347730:P334S	ENSP00000347730:P334S	P	+	1	0	ZNF536	35627309	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	0.908000	0.28545	1.321000	0.45227	0.491000	0.48974	CCC	0	NULL		0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	26	106	0	0.00	0	0	C	NM_014717	rs370088671	C->T		30935469	1	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	14	66	17.65	28.26	3	26	SNP	1	T
PIK3R1	5295	genome.wustl.edu	37	5	67590497	67590497	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr5:67590497delA	ENST00000521381.1	+	12	2175	c.1559delA	c.(1558-1560)gaafs	p.E520fs	PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.E520fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.E220fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.E250fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.E157fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.E520fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.E520fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	520					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AATGAGAAAGAAATACAAAGG	0.353			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																													0		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											66.0	68.0	68.0					5																	67590497		2203	4300	6503	SO:0001589	frameshift_variant	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1559delA	5.37:g.67590497delA	ENSP00000428056:p.Glu520fs		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Del	DEL	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.I521fs	ENST00000521381.1	37	c.1559	CCDS3993.1	5																																																																																			0	superfamily_Guanylate-bd_C,prints_PI3kinase_P85		0.353	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	protein_coding	OTTHUMT00000254013.2	114	320	0	0.00	0	0	A	NM_181504	0	0		67590497	1	no_errors	ENST00000396611	ensembl	human	known	74_37	frame_shift_del	88	231	19.27	18.37	21	52	DEL	1	0
SPTY2D1	144108	genome.wustl.edu	37	11	18633082	18633082	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr11:18633082delA	ENST00000336349.5	-	5	2141	c.1906delT	c.(1906-1908)tatfs	p.Y636fs	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	636										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CGTAAGGCATAATCACTTTCA	0.313																																							0											0													186.0	170.0	176.0					11																	18633082		2198	4293	6491	SO:0001589	frameshift_variant	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1906delT	11.37:g.18633082delA	ENSP00000337991:p.Tyr636fs		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Del	DEL	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.Y636fs	ENST00000336349.5	37	c.1906	CCDS31441.1	11																																																																																			0	pfam_Chromatin_SPT2,smart_Chromatin_SPT2		0.313	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	protein_coding	OTTHUMT00000395941.1	118	231	0	0.00	0	0	A	NM_194285	0	0		18633082	-1	no_errors	ENST00000336349	ensembl	human	known	74_37	frame_shift_del	18	106	47.06	33.33	16	53	DEL	1	0
EIF5	1983	genome.wustl.edu	37	14	103804757	103804759	+	In_Frame_Del	DEL	CAC	CAC	-	rs35559775		TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	CAC	CAC	CAC	-	CAC	CAC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr14:103804757_103804759delCAC	ENST00000216554.3	+	7	1209_1211	c.533_535delCAC	c.(532-537)acacca>aca	p.P185del	EIF5_ENST00000392715.2_In_Frame_Del_p.P185del|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000558506.1_In_Frame_Del_p.P185del	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	185					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGCAGTGAGAcaccaccaccacc	0.433																																							0											0																																										SO:0001651	inframe_deletion	0			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.533_535delCAC	14.37:g.103804766_103804768delCAC	ENSP00000216554:p.Pro185del		Q53XB3|Q9H5N2|Q9UG48	In_Frame_Del	DEL	pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain	p.P182in_frame_del	ENST00000216554.3	37	c.533_535	CCDS9980.1	14																																																																																			0	NULL		0.433	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5	protein_coding	OTTHUMT00000415329.2	55	70	0	1.41	0	1	CAC	NM_001969	0	0		103804759	1	no_errors	ENST00000216554	ensembl	human	known	74_37	in_frame_del	34	56	12.82	6.67	5	4	DEL	1.000:0.985:0.984	0
LOC101927209	101927209	genome.wustl.edu	37	1	142713777	142713777	+	lincRNA	SNP	G	G	C			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr1:142713777G>C	ENST00000610091.1	-	0	1881																											TTTCCACATTGTCATTTTTCA	0.284																																							0											0																																												0																															1.37:g.142713777G>C				RNA	SNP	0	NULL	ENST00000610091.1	37	NULL		1																																																																																			0	0		0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	ENSG00000203849	lincRNA	OTTHUMT00000037265.2	303	0	0	0.00	0	0	G		0	0		142713777	-1	no_errors	ENST00000369381	ensembl	human	known	74_37	rna	140	0	33.18	0.00	70	0	SNP	0.045	C
ZNF676	163223	genome.wustl.edu	37	19	22363559	22363559	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr19:22363559C>G	ENST00000397121.2	-	3	1277	c.960G>C	c.(958-960)tgG>tgC	p.W320C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGCTTGAGGACCAGCTGAAGG	0.433																																							0											0													60.0	62.0	61.0					19																	22363559		2095	4231	6326	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.960G>C	19.37:g.22363559C>G	ENSP00000380310:p.Trp320Cys		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W320C	ENST00000397121.2	37	c.960	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	0.070	-1.204275	0.01568	.	.	ENSG00000196109	ENST00000397121	T	0.36340	1.26	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23410	0.0566	N	0.10707	0.03	0.09310	N	1	D	0.58620	0.983	P	0.56474	0.799	T	0.11251	-1.0595	9	0.44086	T	0.13	.	0.1517	0.00094	0.2482:0.2591:0.2473:0.2454	.	320	Q8N7Q3	ZN676_HUMAN	C	320	ENSP00000380310:W320C	ENSP00000380310:W320C	W	-	3	0	ZNF676	22155399	0.000000	0.05858	0.017000	0.16124	0.017000	0.09413	-5.234000	0.00139	0.192000	0.20272	0.195000	0.17529	TGG	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	protein_coding	OTTHUMT00000464392.1	125	7	0	0.00	0	0	C	NM_001001411	0	0		22363559	-1	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	100	3	15.83	0.00	19	0	SNP	0	G
TCEAL4	79921	genome.wustl.edu	37	X	102831459	102831459	+	Splice_Site	DEL	G	G	-			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chrX:102831459delG	ENST00000372629.4	+	1	301	c.62delG	c.(61-63)agg>ag	p.R21fs				Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	103	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						tgggaggccagggtgagtaga	0.537																																							0											0																																										SO:0001630	splice_region_variant	0			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000372629.4:c.63+1G>-	X.37:g.102831459delG			Q8WY12|Q9H2H1|Q9H775	Frame_Shift_Del	DEL	pfam_TF_A-like/BEX-like	p.G22fs	ENST00000372629.4	37	c.62		X																																																																																			0	NULL		0.537	TCEAL4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TCEAL4	protein_coding	OTTHUMT00000252336.1	47	0	0	0.00	0	0	G	NM_024863	0	0	Frame_Shift_Del	102831459	1	no_errors	ENST00000372629	ensembl	human	known	74_37	frame_shift_del	13	0	13.33	0.00	2	0	DEL	0.11	0
