#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANO8	57719	genome.wustl.edu	37	19	17435958	17435958	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr19:17435958C>A	ENST00000159087.4	-	17	3057	c.2899G>T	c.(2899-2901)Ggg>Tgg	p.G967W		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	967					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AGCAGGGACCCTGGGCGCTTG	0.652																																						dbGAP											0													60.0	58.0	59.0					19																	17435958		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2899G>T	19.37:g.17435958C>A	ENSP00000159087:p.Gly967Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.G967W	ENST00000159087.4	37	c.2899	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411103	0.42817	.	.	ENSG00000074855	ENST00000159087	T	0.63744	-0.06	4.21	3.17	0.36434	.	0.111847	0.64402	D	0.000017	T	0.59959	0.2232	L	0.34521	1.04	0.38200	D	0.940174	D	0.63046	0.992	P	0.58577	0.841	T	0.64655	-0.6356	10	0.72032	D	0.01	.	5.6809	0.17776	0.0:0.7659:0.0:0.2341	.	967	Q9HCE9	ANO8_HUMAN	W	967	ENSP00000159087:G967W	ENSP00000159087:G967W	G	-	1	0	ANO8	17296958	1.000000	0.71417	0.982000	0.44146	0.933000	0.57130	3.916000	0.56416	1.887000	0.54652	0.491000	0.48974	GGG	ANO8	-	NULL	ENSG00000074855		0.652	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	44	0.00	0	C	XM_050644		17435958	17435958	-1	no_errors	ENST00000159087	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	0.989	A
BCOR	54880	genome.wustl.edu	37	X	39923040	39923040	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chrX:39923040G>A	ENST00000378444.4	-	8	3896	c.3668C>T	c.(3667-3669)tCg>tTg	p.S1223L	BCOR_ENST00000342274.4_Missense_Mutation_p.S1189L|BCOR_ENST00000397354.3_Missense_Mutation_p.S1189L|BCOR_ENST00000378463.1_Missense_Mutation_p.S66L|BCOR_ENST00000378455.4_Missense_Mutation_p.S1171L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1223					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATCTGCTGCCGACACCTGCTG	0.537			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													94.0	82.0	86.0					X																	39923040		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3668C>T	X.37:g.39923040G>A	ENSP00000367705:p.Ser1223Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S1223L	ENST00000378444.4	37	c.3668	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836208	0.50951	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78	5.52	5.52	0.82312	.	.	.	.	.	T	0.14184	0.0343	N	0.24115	0.695	0.43385	D	0.995498	D;D;D	0.62365	0.991;0.984;0.991	P;B;P	0.50378	0.639;0.356;0.639	T	0.01428	-1.1357	9	0.87932	D	0	-12.9588	16.6977	0.85340	0.0:0.0:1.0:0.0	.	1171;1223;1189	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	L	93;66;1171;1189;1223;1189;1189	ENSP00000408006:S93L;ENSP00000367724:S66L;ENSP00000367716:S1171L;ENSP00000380512:S1189L;ENSP00000367705:S1223L;ENSP00000345923:S1189L;ENSP00000384485:S1189L	ENSP00000345923:S1189L	S	-	2	0	BCOR	39807984	1.000000	0.71417	0.962000	0.40283	0.128000	0.20619	4.021000	0.57196	2.317000	0.78254	0.529000	0.55759	TCG	BCOR	-	NULL	ENSG00000183337		0.537	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	260	0.38	1	G	NM_017745		39923040	39923040	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	missense	183	24.69	60	SNP	0.998	A
BRWD3	254065	genome.wustl.edu	37	X	79990688	79990688	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chrX:79990688G>C	ENST00000373275.4	-	10	1139	c.923C>G	c.(922-924)cCg>cGg	p.P308R		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	308					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAATTTCACCGGGCGATCTCT	0.383																																						dbGAP											0													62.0	56.0	58.0					X																	79990688		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.923C>G	X.37:g.79990688G>C	ENSP00000362372:p.Pro308Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.P308R	ENST00000373275.4	37	c.923	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339866	0.81911	.	.	ENSG00000165288	ENST00000373275	T	0.19105	2.17	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.060185	0.64402	D	0.000002	T	0.49338	0.1551	M	0.80422	2.495	0.58432	D	0.999998	D	0.71674	0.998	D	0.70227	0.968	T	0.52200	-0.8607	9	.	.	.	-4.7914	17.641	0.88136	0.0:0.0:1.0:0.0	.	308	Q6RI45	BRWD3_HUMAN	R	308	ENSP00000362372:P308R	.	P	-	2	0	BRWD3	79877344	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.475000	0.90417	2.352000	0.79861	0.544000	0.68410	CCG	BRWD3	-	superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165288		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	150	0.00	0	G	NM_153252		79990688	79990688	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	119	25.00	40	SNP	1.000	C
BCORL1	63035	genome.wustl.edu	37	X	129147755	129147755	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chrX:129147755C>T	ENST00000218147.7	+	4	1204	c.1007C>T	c.(1006-1008)cCg>cTg	p.P336L	BCORL1_ENST00000303743.5_Missense_Mutation_p.P336L|BCORL1_ENST00000359304.2_Missense_Mutation_p.P336L|BCORL1_ENST00000540052.1_Missense_Mutation_p.P336L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	336	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						gtccccactccggttctggct	0.662																																						dbGAP											0													43.0	40.0	41.0					X																	129147755		2144	4175	6319	-	-	-	SO:0001583	missense	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1007C>T	X.37:g.129147755C>T	ENSP00000218147:p.Pro336Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P336L	ENST00000218147.7	37	c.1007	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597820	0.46318	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.43294	0.97;1.38;0.95;0.97	4.32	4.32	0.51571	.	0.000000	0.33253	N	0.005106	T	0.41143	0.1146	N	0.08118	0	0.49130	D	0.999754	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.925	T	0.35773	-0.9775	9	.	.	.	-9.1075	13.5136	0.61528	0.0:1.0:0.0:0.0	.	336;336	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	L	336	ENSP00000218147:P336L;ENSP00000307541:P336L;ENSP00000352253:P336L;ENSP00000437775:P336L	.	P	+	2	0	BCORL1	128975436	0.167000	0.22975	0.979000	0.43373	0.519000	0.34347	2.152000	0.42272	2.145000	0.66743	0.529000	0.55759	CCG	BCORL1	-	NULL	ENSG00000085185		0.662	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	157	0.00	0	C	NM_021946		129147755	129147755	+1	no_errors	ENST00000303743	ensembl	human	known	69_37n	missense	90	44.79	73	SNP	1.000	T
CA7	766	genome.wustl.edu	37	16	66884454	66884454	+	Silent	SNP	G	G	A	rs376658308		TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr16:66884454G>A	ENST00000338437.2	+	3	358	c.249G>A	c.(247-249)ggG>ggA	p.G83G	CA7_ENST00000394069.3_Silent_p.G27G|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	83					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	TGGTGACTGGGGGCCCCCTGG	0.622																																						dbGAP											0													54.0	59.0	57.0					16																	66884454		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.249G>A	16.37:g.66884454G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q541F0|Q86YU0	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.G83	ENST00000338437.2	37	c.249	CCDS10821.1	16																																																																																			CA7	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000168748		0.622	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA7	HGNC	protein_coding	OTTHUMT00000268847.1	53	0.00	0	G			66884454	66884454	+1	no_errors	ENST00000338437	ensembl	human	known	69_37n	silent	22	55.10	27	SNP	1.000	A
CBX8	57332	genome.wustl.edu	37	17	77768618	77768618	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr17:77768618C>T	ENST00000269385.4	-	5	1103	c.986G>A	c.(985-987)gGa>gAa	p.G329E	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	329					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGGGCCTTCCCCCCTGGGC	0.692																																						dbGAP											0													20.0	25.0	23.0					17																	77768618		2183	4274	6457	-	-	-	SO:0001583	missense	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.986G>A	17.37:g.77768618C>T	ENSP00000269385:p.Gly329Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H39|Q9NR07	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.G329E	ENST00000269385.4	37	c.986	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	c	18.37	3.608793	0.66558	.	.	ENSG00000141570	ENST00000269385	T	0.47869	0.83	4.98	4.98	0.66077	.	0.646996	0.14196	N	0.334983	T	0.60392	0.2265	L	0.39898	1.24	0.47441	D	0.999426	D	0.89917	1.0	D	0.87578	0.998	T	0.49542	-0.8929	10	0.15066	T	0.55	-14.2749	18.3052	0.90177	0.0:1.0:0.0:0.0	.	329	Q9HC52	CBX8_HUMAN	E	329	ENSP00000269385:G329E	ENSP00000269385:G329E	G	-	2	0	CBX8	75383213	0.980000	0.34600	1.000000	0.80357	0.996000	0.88848	3.418000	0.52721	2.490000	0.84030	0.538000	0.68166	GGA	CBX8	-	NULL	ENSG00000141570		0.692	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	29	0.00	0	C	NM_020649		77768618	77768618	-1	no_errors	ENST00000269385	ensembl	human	known	69_37n	missense	39	48.68	37	SNP	1.000	T
CYP27B1	1594	genome.wustl.edu	37	12	58159205	58159205	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr12:58159205G>A	ENST00000228606.4	-	3	673	c.464C>T	c.(463-465)gCc>gTc	p.A155V	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	155					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CAGGGTTCCGGCGTAGCGGGC	0.706											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													18.0	24.0	22.0					12																	58159205		2198	4292	6490	-	-	-	SO:0001583	missense	0			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.464C>T	12.37:g.58159205G>A	ENSP00000228606:p.Ala155Val	Somatic	1028	WXS	Illumina GAIIx	Phase_IV	B2RC61|Q548T3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A155V	ENST00000228606.4	37	c.464	CCDS8954.1	12	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998576	0.35226	.	.	ENSG00000111012	ENST00000228606	T	0.65916	-0.18	5.06	4.15	0.48705	.	0.285396	0.38720	N	0.001595	T	0.44329	0.1288	N	0.10874	0.06	0.09310	N	1	P	0.38048	0.616	P	0.45276	0.475	T	0.35798	-0.9774	10	0.10111	T	0.7	.	9.6212	0.39723	0.0:0.1545:0.6856:0.1599	.	155	O15528	CP27B_HUMAN	V	155	ENSP00000228606:A155V	ENSP00000228606:A155V	A	-	2	0	CYP27B1	56445472	0.376000	0.25098	0.018000	0.16275	0.005000	0.04900	2.837000	0.48191	1.313000	0.45069	0.561000	0.74099	GCC	CYP27B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000111012		0.706	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27B1	HGNC	protein_coding	OTTHUMT00000409248.1	43	0.00	0	G	NM_000785		58159205	58159205	-1	no_errors	ENST00000228606	ensembl	human	known	69_37n	missense	30	38.78	19	SNP	0.079	A
LINC01011	401232	genome.wustl.edu	37	6	2989558	2989558	+	lincRNA	SNP	C	C	T			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr6:2989558C>T	ENST00000445000.1	+	0	962				RP1-90J20.8_ENST00000429319.1_RNA|RP1-90J20.8_ENST00000456189.1_RNA	NR_026855.1				long intergenic non-protein coding RNA 1011																		CGCAGGACTTCCTGCCACAGA	0.567																																						dbGAP											0													36.0	43.0	41.0					6																	2989558		692	1591	2283	-	-	-			0					6p25.2	2013-07-24			ENSG00000244041	ENSG00000244041		"""Long non-coding RNAs"""	33812	non-coding RNA	RNA, long non-coding							Standard	NR_026855		Approved	DKFZp686I15217			OTTHUMG00000014128		6.37:g.2989558C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000445000.1	37	NULL		6																																																																																			RP1-90J20.7	-	-	ENSG00000244041		0.567	LINC01011-004	KNOWN	basic|exp_conf	lincRNA	DKFZP686I15217	Clone_based_vega_gene	lincRNA	OTTHUMT00000255317.1	42	0.00	0	C			2989558	2989558	+1	no_errors	ENST00000445000	ensembl	human	putative	69_37n	rna	29	12.12	4	SNP	0.005	T
DMP1	1758	genome.wustl.edu	37	4	88584457	88584457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr4:88584457delC	ENST00000339673.6	+	6	1626	c.1527delC	c.(1525-1527)tgcfs	p.C509fs	RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Frame_Shift_Del_p.C493fs|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	509					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ACAATGACTGCCAAGACGGCT	0.398																																						dbGAP											0													140.0	140.0	140.0					4																	88584457		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1527delC	4.37:g.88584457delC	ENSP00000340935:p.Cys509fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L3|O43265	Frame_Shift_Del	DEL	pfam_DMP1	p.Q510fs	ENST00000339673.6	37	c.1527	CCDS3623.1	4																																																																																			DMP1	-	pfam_DMP1	ENSG00000152592		0.398	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMP1	HGNC	protein_coding	OTTHUMT00000253047.1	82	0.00	0	C			88584457	88584457	+1	no_errors	ENST00000339673	ensembl	human	known	69_37n	frame_shift_del	81	21.15	22	DEL	1.000	-
FANCC	2176	genome.wustl.edu	37	9	97873829	97873829	+	Silent	SNP	T	T	C			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr9:97873829T>C	ENST00000289081.3	-	13	1499	c.1245A>G	c.(1243-1245)gcA>gcG	p.A415A	FANCC_ENST00000375305.1_Silent_p.A415A|FANCC_ENST00000464653.1_5'Flank|RP11-80I15.4_ENST00000423075.1_RNA	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	415					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GGGGTTCGGCTGCCGACATCA	0.607			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	0													93.0	91.0	92.0					9																	97873829		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1245A>G	9.37:g.97873829T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALR8	Silent	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.A415	ENST00000289081.3	37	c.1245	CCDS35071.1	9																																																																																			FANCC	-	pfam_Fanconi,pirsf_Fanconi	ENSG00000158169		0.607	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	148	0.00	0	T	NM_000136		97873829	97873829	-1	no_errors	ENST00000289081	ensembl	human	known	69_37n	silent	111	34.12	58	SNP	0.000	C
FGD4	121512	genome.wustl.edu	37	12	32778624	32778624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr12:32778624C>T	ENST00000427716.2	+	14	2096	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R670*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.R643*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	558					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGATGGATCCGAGATAATGA	0.353																																						dbGAP											0													100.0	96.0	97.0					12																	32778624		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1672C>T	12.37:g.32778624C>T	ENSP00000394487:p.Arg558*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ULS2|Q8TCP6	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R558*	ENST00000427716.2	37	c.1672	CCDS8727.1	12	.	.	.	.	.	.	.	.	.	.	C	42	9.767721	0.99259	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	.	.	.	5.39	4.47	0.54385	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9663	15.1414	0.72612	0.1426:0.8574:0.0:0.0	.	.	.	.	X	695;643;558;310;465;670	.	ENSP00000266482:R310X	R	+	1	2	FGD4	32669891	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.416000	0.52707	1.202000	0.43218	0.555000	0.69702	CGA	FGD4	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE	ENSG00000139132		0.353	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	199	0.00	0	C	NM_139241		32778624	32778624	+1	no_errors	ENST00000427716	ensembl	human	known	69_37n	nonsense	189	29.74	80	SNP	1.000	T
GATA3	2625	genome.wustl.edu	37	10	8115851	8115852	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr10:8115851_8115852insA	ENST00000346208.3	+	6	1652_1653	c.1197_1198insA	c.(1198-1200)atgfs	p.M400fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.M401fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	400					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M401fs*>45(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTCCAGACACATGTCCTCCCT	0.559			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1198dupA	10.37:g.8115852_8115852dupA	ENSP00000341619:p.Met400fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.M400fs	ENST00000346208.3	37	c.1200_1201	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.559	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	173	0.00	0	-	NM_001002295		8115851	8115852	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	137	32.51	66	INS	1.000:1.000	A
GTF2I	2969	genome.wustl.edu	37	7	74148311	74148311	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr7:74148311C>T	ENST00000324896.4	+	16	1740	c.1351C>T	c.(1351-1353)Cca>Tca	p.P451S	GTF2I_ENST00000353920.4_Missense_Mutation_p.P431S|GTF2I_ENST00000346152.4_Missense_Mutation_p.P430S|GTF2I_ENST00000416070.1_Missense_Mutation_p.P410S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	451					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						GCTTGATAAGCCAGCTTCAGG	0.358																																						dbGAP											0													68.0	65.0	66.0					7																	74148311		2201	4297	6498	-	-	-	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.1351C>T	7.37:g.74148311C>T	ENSP00000322542:p.Pro451Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	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.P451S	ENST00000324896.4	37	c.1351	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214743	0.58452	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.33865	1.41;1.39;1.39;1.39	4.07	4.07	0.47477	.	0.196582	0.34580	N	0.003843	T	0.43255	0.1239	N	0.24115	0.695	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.867;0.998;1.0;0.997	D;P;D;D;D	0.87578	0.996;0.461;0.994;0.998;0.986	T	0.40327	-0.9569	10	0.66056	D	0.02	-9.4304	10.9498	0.47323	0.1863:0.8137:0.0:0.0	.	429;410;431;430;451	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	S	451;446;431;430;410	ENSP00000322542:P451S;ENSP00000322671:P431S;ENSP00000322599:P430S;ENSP00000387651:P410S	ENSP00000322542:P451S	P	+	1	0	GTF2I	73786247	0.849000	0.29639	0.996000	0.52242	0.912000	0.54170	1.440000	0.35024	2.266000	0.75297	0.585000	0.79938	CCA	GTF2I	-	superfamily_GTF2I,pirsf_TF_II-I	ENSG00000077809		0.358	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	352	0.00	0	C	NM_032999		74148311	74148311	+1	no_errors	ENST00000324896	ensembl	human	known	69_37n	missense	278	31.02	125	SNP	0.997	T
IFI44	10561	genome.wustl.edu	37	1	79115985	79115985	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr1:79115985C>A	ENST00000370747.4	+	2	190	c.105C>A	c.(103-105)ttC>ttA	p.F35L	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	35					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TCCATGGATTCCGTAATGGAG	0.413																																						dbGAP											0													184.0	172.0	176.0					1																	79115985		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.105C>A	1.37:g.79115985C>A	ENSP00000359783:p.Phe35Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	pfam_TLDc	p.F35L	ENST00000370747.4	37	c.105	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628758	0.28978	.	.	ENSG00000137965	ENST00000370747	T	0.40476	1.03	3.32	-1.85	0.07784	TLDc (1);	0.070479	0.56097	D	0.000033	T	0.34745	0.0908	M	0.62088	1.915	0.19775	N	0.99995	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.36792	-0.9733	10	0.24483	T	0.36	.	7.3311	0.26584	0.0:0.3813:0.0:0.6187	.	35;35	B7ZB11;Q8TCB0	.;IFI44_HUMAN	L	35	ENSP00000359783:F35L	ENSP00000359783:F35L	F	+	3	2	IFI44	78888573	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	-0.253000	0.08794	-0.416000	0.07473	0.460000	0.39030	TTC	IFI44	-	pfam_TLDc	ENSG00000137965		0.413	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	299	0.00	0	C	NM_006417		79115985	79115985	+1	no_errors	ENST00000370747	ensembl	human	known	69_37n	missense	318	16.09	61	SNP	0.003	A
KIAA0368	23392	genome.wustl.edu	37	9	114170924	114170924	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr9:114170924C>A	ENST00000338205.5	-	23	2798	c.2579G>T	c.(2578-2580)gGa>gTa	p.G860V	KIAA0368_ENST00000374378.3_5'Flank|RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000259335.4_Missense_Mutation_p.G1038V			Q5VYK3	ECM29_HUMAN	KIAA0368	866					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGGAAAATATCCCAGTGTTTG	0.383																																						dbGAP											0													64.0	64.0	64.0					9																	114170924		1810	4076	5886	-	-	-	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2579G>T	9.37:g.114170924C>A	ENSP00000339889:p.Gly860Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G1038V	ENST00000338205.5	37	c.3113		9	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673299	0.88445	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.69685	-0.42	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85408	0.1135	10	0.87932	D	0	.	19.4873	0.95035	0.0:1.0:0.0:0.0	.	335	B3KXF2	.	V	860;1038;335	ENSP00000259335:G1038V	ENSP00000259335:G1038V	G	-	2	0	KIAA0368	113210745	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.267000	0.78462	2.609000	0.88269	0.655000	0.94253	GGA	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.383	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	213	0.00	0	C	NM_014686		114170924	114170924	-1	no_errors	ENST00000259335	ensembl	human	known	69_37n	missense	190	29.63	80	SNP	1.000	A
NID2	22795	genome.wustl.edu	37	14	52485857	52485857	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr14:52485857C>T	ENST00000216286.5	-	14	2949	c.2950G>A	c.(2950-2952)Gtg>Atg	p.V984M	NID2_ENST00000541773.1_Missense_Mutation_p.V883M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	984	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCAGGGTCCACGCACCAGCAG	0.617																																						dbGAP											0													66.0	50.0	56.0					14																	52485857		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2950G>A	14.37:g.52485857C>T	ENSP00000216286:p.Val984Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.V984M	ENST00000216286.5	37	c.2950	CCDS9706.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.101424|4.101424	0.76983|0.76983	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	.|T;T	.|0.80566	.|-1.39;-1.39	5.32|5.32	4.41|4.41	0.53225|0.53225	.|Thyroglobulin type-1 (6);	.|0.057002	.|0.64402	.|D	.|0.000001	D|D	0.93058|0.93058	0.7790|0.7790	H|H	0.97186|0.97186	3.955|3.955	0.42665|0.42665	D|D	0.993495|0.993495	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.994;0.917;0.984;0.997	D|D	0.95453|0.95453	0.8536|0.8536	5|10	.|0.62326	.|D	.|0.03	.|.	15.9765|15.9765	0.80071|0.80071	0.1361:0.8639:0.0:0.0|0.1361:0.8639:0.0:0.0	.|.	.|578;883;986;984	.|E7EPP3;Q14112-2;Q5CZI2;Q14112	.|.;.;.;NID2_HUMAN	H|M	252|984;578;883;986	.|ENSP00000216286:V984M;ENSP00000443730:V883M	.|ENSP00000216286:V984M	R|V	-|-	2|1	0|0	NID2|NID2	51555607|51555607	1.000000|1.000000	0.71417|0.71417	0.377000|0.377000	0.26055|0.26055	0.813000|0.813000	0.45954|0.45954	5.837000|5.837000	0.69381|0.69381	1.522000|1.522000	0.49001|0.49001	0.655000|0.655000	0.94253|0.94253	CGT|GTG	NID2	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000087303		0.617	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	53	0.00	0	C			52485857	52485857	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	missense	51	35.44	28	SNP	0.999	T
NUAK1	9891	genome.wustl.edu	37	12	106461239	106461239	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr12:106461239G>A	ENST00000261402.2	-	7	2706	c.1327C>T	c.(1327-1329)Cca>Tca	p.P443S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	443					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGTGAGCTTGGGAGGAGCACG	0.552																																						dbGAP											0													71.0	69.0	69.0					12																	106461239		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1327C>T	12.37:g.106461239G>A	ENSP00000261402:p.Pro443Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD39|Q96KA8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P443S	ENST00000261402.2	37	c.1327	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	G	9.586	1.124850	0.20959	.	.	ENSG00000074590	ENST00000261402	T	0.72725	-0.68	5.56	0.91	0.19337	.	0.813015	0.10795	N	0.633347	T	0.45994	0.1370	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21381	-1.0247	10	0.13853	T	0.58	.	10.8051	0.46514	0.0:0.0859:0.6265:0.2876	.	443	O60285	NUAK1_HUMAN	S	443	ENSP00000261402:P443S	ENSP00000261402:P443S	P	-	1	0	NUAK1	104985369	0.664000	0.27457	0.045000	0.18777	0.808000	0.45660	1.060000	0.30530	0.184000	0.20083	0.491000	0.48974	CCA	NUAK1	-	NULL	ENSG00000074590		0.552	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	115	0.00	0	G	NM_014840		106461239	106461239	-1	no_errors	ENST00000261402	ensembl	human	known	69_37n	missense	112	35.23	62	SNP	0.022	A
PHACTR2	9749	genome.wustl.edu	37	6	144070161	144070161	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr6:144070161A>G	ENST00000427704.2	+	3	351	c.221A>G	c.(220-222)gAg>gGg	p.E74G	PHACTR2_ENST00000397980.3_Missense_Mutation_p.E85G|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E85G|PHACTR2_ENST00000305766.6_Missense_Mutation_p.E74G|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E85G|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E142G	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	74							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AGTAGAGAGGAGCTGATAAGA	0.323																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	dbGAP											0													116.0	117.0	117.0					6																	144070161		1846	4093	5939	-	-	-	SO:0001583	missense	0			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.221A>G	6.37:g.144070161A>G	ENSP00000391763:p.Glu74Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.E85G	ENST00000427704.2	37	c.254	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230495	0.79688	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000542769;ENST00000397980;ENST00000367583	T;T;T;T;T;T	0.72835	0.48;0.85;0.61;0.9;0.57;-0.69	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.79610	0.4475	M	0.72479	2.2	0.53005	D	0.999964	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.997;0.996;0.997;0.998	T	0.82725	-0.0315	10	0.87932	D	0	.	14.359	0.66757	1.0:0.0:0.0:0.0	.	85;74;85;74	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	G	142;74;74;85;85;85;29;85;85	ENSP00000356556:E142G;ENSP00000391763:E74G;ENSP00000305530:E74G;ENSP00000417038:E85G;ENSP00000356554:E85G;ENSP00000442153:E29G	ENSP00000305530:E74G	E	+	2	0	PHACTR2	144111854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.723000	0.68492	2.198000	0.70561	0.533000	0.62120	GAG	PHACTR2	-	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	ENSG00000112419		0.323	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2	487	0.41	2	A	NM_014721		144070161	144070161	+1	no_errors	ENST00000440869	ensembl	human	known	69_37n	missense	288	29.85	123	SNP	1.000	G
PHF21B	112885	genome.wustl.edu	37	22	45309833	45309833	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr22:45309833T>C	ENST00000313237.5	-	5	850	c.700A>G	c.(700-702)Att>Gtt	p.I234V	PHF21B_ENST00000403565.1_Missense_Mutation_p.I30V|PHF21B_ENST00000447824.3_Missense_Mutation_p.I180V|PHF21B_ENST00000396103.3_Missense_Mutation_p.I192V|PHF21B_ENST00000404079.2_Missense_Mutation_p.I180V	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	234							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGAGGCTGAATGATGATGACC	0.612																																						dbGAP											0													82.0	79.0	80.0					22																	45309833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.700A>G	22.37:g.45309833T>C	ENSP00000324403:p.Ile234Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.I234V	ENST00000313237.5	37	c.700	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	T	14.21	2.467784	0.43839	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000414269;ENST00000420689	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	4.7	1.21	0.21127	.	0.303544	0.27151	N	0.020696	T	0.37019	0.0988	L	0.50333	1.59	0.32616	N	0.523933	B;B;B;B;B	0.34329	0.158;0.298;0.198;0.449;0.021	B;B;B;B;B	0.37015	0.074;0.239;0.077;0.13;0.034	T	0.46275	-0.9203	10	0.02654	T	1	-16.6747	12.4519	0.55681	0.0:0.0:0.4393:0.5607	.	180;192;180;234;30	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;.;PF21B_HUMAN;.	V	30;234;192;180;180;30;180	ENSP00000385053:I30V;ENSP00000324403:I234V;ENSP00000379410:I192V;ENSP00000385105:I180V;ENSP00000388619:I180V;ENSP00000401091:I30V;ENSP00000401294:I180V	ENSP00000324403:I234V	I	-	1	0	PHF21B	43688497	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	2.459000	0.45023	-0.010000	0.14271	0.533000	0.62120	ATT	PHF21B	-	NULL	ENSG00000056487		0.612	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	171	0.00	0	T	NM_138415		45309833	45309833	-1	no_errors	ENST00000313237	ensembl	human	known	69_37n	missense	56	57.58	76	SNP	1.000	C
POTEE	445582	genome.wustl.edu	37	2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr2:131976471G>A	ENST00000356920.5	+	1	590	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	POTEE_ENST00000358087.5_Missense_Mutation_p.V166M|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	166					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGACACTGACGTGAACAAGAA	0.592																																						dbGAP											0													142.0	144.0	144.0					2																	131976471		2202	4299	6501	-	-	-	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.496G>A	2.37:g.131976471G>A	ENSP00000439189:p.Val166Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.V166M	ENST00000356920.5	37	c.496	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	6.887	0.533134	0.13188	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.69040	-0.37;0.4	1.05	-2.11	0.07187	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.60130	0.2245	M	0.82323	2.585	0.09310	N	1	D	0.64830	0.994	P	0.45946	0.498	T	0.55256	-0.8169	9	0.10111	T	0.7	.	0.4843	0.00553	0.2242:0.3331:0.2329:0.2098	.	166	Q6S8J3	POTEE_HUMAN	M	166	ENSP00000439189:V166M;ENSP00000443049:V166M	ENSP00000439189:V166M	V	+	1	0	AC131180.1	131692941	0.000000	0.05858	0.000000	0.03702	0.429000	0.31625	-1.874000	0.01636	-1.957000	0.01021	0.162000	0.16502	GTG	AC131180.1	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000188219		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Clone_based_ensembl_gene	protein_coding		440	0.45	2	G	NM_001083538		131976471	131976471	+1	no_errors	ENST00000356920	ensembl	human	known	69_37n	missense	367	21.75	102	SNP	0.000	A
PPIL4	85313	genome.wustl.edu	37	6	149862525	149862525	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr6:149862525G>A	ENST00000253329.2	-	3	213	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	61	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TCTCCTCCACGGCCAGTCCCT	0.318																																						dbGAP											0													86.0	87.0	87.0					6																	149862525		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.181C>T	6.37:g.149862525G>A	ENSP00000253329:p.Arg61Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD34|Q7Z3Q5	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R61C	ENST00000253329.2	37	c.181	CCDS34550.1	6	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340647	0.60963	.	.	ENSG00000131013	ENST00000253329	T	0.44482	0.92	5.57	5.57	0.84162	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.053163	0.85682	D	0.000000	T	0.58452	0.2123	M	0.85462	2.755	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.60609	0.806;0.877	T	0.64643	-0.6359	10	0.72032	D	0.01	.	14.7152	0.69262	0.0:0.0:0.8551:0.1449	.	61;61	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	C	61	ENSP00000253329:R61C	ENSP00000253329:R61C	R	-	1	0	PPIL4	149904218	1.000000	0.71417	0.995000	0.50966	0.741000	0.42261	5.040000	0.64191	2.763000	0.94921	0.655000	0.94253	CGT	PPIL4	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000131013		0.318	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL4	HGNC	protein_coding	OTTHUMT00000042642.1	215	0.00	0	G			149862525	149862525	-1	no_errors	ENST00000253329	ensembl	human	known	69_37n	missense	79	47.02	71	SNP	0.932	A
RAB11FIP5	26056	genome.wustl.edu	37	2	73303155	73303156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr2:73303155_73303156insG	ENST00000258098.6	-	4	1963_1964	c.1723_1724insC	c.(1723-1725)cagfs	p.Q575fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	575					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.Q575fs*11(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGGCCAGCCTGGGGGGCCTGG	0.599																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1724dupC	2.37:g.73303161_73303161dupG	ENSP00000258098:p.Gln575fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94939|Q9P0M1	Frame_Shift_Ins	INS	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.Q575fs	ENST00000258098.6	37	c.1724_1723	CCDS1923.1	2																																																																																			RAB11FIP5	-	NULL	ENSG00000135631		0.599	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	100	0.00	0	-	NM_015470		73303155	73303156	-1	no_errors	ENST00000258098	ensembl	human	known	69_37n	frame_shift_ins	57	37.36	34	INS	0.906:0.968	G
RFX4	5992	genome.wustl.edu	37	12	106995096	106995096	+	Intron	SNP	G	G	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr12:106995096G>A	ENST00000392842.1	+	2	457				RFX4_ENST00000357881.4_Silent_p.R14R|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGGCGACAGGACCAGGCCTC	0.667																																						dbGAP											0													43.0	34.0	37.0					12																	106995096		2200	4293	6493	-	-	-	SO:0001627	intron_variant	0			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.44-7479G>A	12.37:g.106995096G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	pfam_DNA-bd_RFX	p.R14	ENST00000392842.1	37	c.42	CCDS9106.1	12																																																																																			RFX4	-	NULL	ENSG00000111783		0.667	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	70	0.00	0	G	NM_032491		106995096	106995096	+1	no_errors	ENST00000357881	ensembl	human	known	69_37n	silent	47	35.62	26	SNP	0.000	A
RGS7	6000	genome.wustl.edu	37	1	240969512	240969512	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr1:240969512C>A	ENST00000407727.1	-	14	1196	c.1197G>T	c.(1195-1197)ttG>ttT	p.L399F	RGS7_ENST00000331110.7_Missense_Mutation_p.L373F|RGS7_ENST00000366565.1_Missense_Mutation_p.L399F|RGS7_ENST00000366563.1_Missense_Mutation_p.L399F|RGS7_ENST00000446183.2_Missense_Mutation_p.L315F|RGS7_ENST00000366562.4_Missense_Mutation_p.L399F|RGS7_ENST00000401882.1_Missense_Mutation_p.L346F|RGS7_ENST00000348120.2_Missense_Mutation_p.L346F|RGS7_ENST00000366564.1_Missense_Mutation_p.L399F			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	399	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTGGAATCCAAGTTAATAG	0.478																																						dbGAP											0													181.0	164.0	170.0					1																	240969512		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1197G>T	1.37:g.240969512C>A	ENSP00000384428:p.Leu399Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.L399F	ENST00000407727.1	37	c.1197		1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327994	0.81690	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.02656	4.21;4.21;4.21;4.21;4.21;4.21;4.21;4.21;4.21;4.21	5.95	5.95	0.96441	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.064020	0.64402	D	0.000005	T	0.18215	0.0437	M	0.94063	3.49	0.46260	D	0.99895	P;D;D;P;D;P;D	0.60575	0.786;0.967;0.959;0.711;0.959;0.857;0.988	P;P;P;P;P;P;D	0.66497	0.618;0.864;0.858;0.589;0.858;0.484;0.944	T	0.00241	-1.1886	10	0.87932	D	0	.	8.757	0.34652	0.0:0.8418:0.0:0.1582	.	315;373;346;399;399;399;399	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	F	373;399;399;399;230;346;315;399;399;346	ENSP00000331485:L373F;ENSP00000355523:L399F;ENSP00000355522:L399F;ENSP00000355521:L399F;ENSP00000404399:L230F;ENSP00000341242:L346F;ENSP00000390138:L315F;ENSP00000355520:L399F;ENSP00000384428:L399F;ENSP00000385508:L346F	ENSP00000331485:L373F	L	-	3	2	RGS7	239036135	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.422000	0.34826	2.827000	0.97445	0.650000	0.86243	TTG	RGS7	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000182901		0.478	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		396	0.00	0	C	NM_002924		240969512	240969512	-1	no_errors	ENST00000407727	ensembl	human	known	69_37n	missense	578	12.01	79	SNP	1.000	A
SDK1	221935	genome.wustl.edu	37	7	4153004	4153004	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr7:4153004C>A	ENST00000404826.2	+	24	3657	c.3518C>A	c.(3517-3519)cCc>cAc	p.P1173H	SDK1_ENST00000389531.3_Missense_Mutation_p.P1173H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1173					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGGCCCCACCCGACGTGGCT	0.607																																						dbGAP											0													119.0	127.0	124.0					7																	4153004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3518C>A	7.37:g.4153004C>A	ENSP00000385899:p.Pro1173His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1173H	ENST00000404826.2	37	c.3518	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701093	0.68501	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.63913	-0.07;-0.07	4.92	4.92	0.64577	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.85745	0.5768	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.90337	0.4356	10	0.87932	D	0	.	18.5041	0.90891	0.0:1.0:0.0:0.0	.	1173;1173	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	H	1173	ENSP00000385899:P1173H;ENSP00000374182:P1173H	ENSP00000374182:P1173H	P	+	2	0	SDK1	4119530	1.000000	0.71417	0.169000	0.22859	0.365000	0.29674	7.322000	0.79097	2.437000	0.82529	0.655000	0.94253	CCC	SDK1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	93	0.00	0	C	NM_152744		4153004	4153004	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	90	15.89	17	SNP	0.998	A
TMEM132D	121256	genome.wustl.edu	37	12	129558739	129558739	+	Frame_Shift_Del	DEL	C	C	-	rs372179663		TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr12:129558739delC	ENST00000422113.2	-	9	3307	c.2981delG	c.(2980-2982)ggcfs	p.G994fs	TMEM132D_ENST00000389441.4_Frame_Shift_Del_p.G532fs	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	994					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GAAATCCATGCCCCTGTCAAT	0.473																																						dbGAP											0													112.0	102.0	106.0					12																	129558739		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2981delG	12.37:g.129558739delC	ENSP00000408581:p.Gly994fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Frame_Shift_Del	DEL	NULL	p.G994fs	ENST00000422113.2	37	c.2981	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.473	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	167	0.00	0	C	NM_133448		129558739	129558739	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	frame_shift_del	167	22.02	48	DEL	0.545	-
TNIK	23043	genome.wustl.edu	37	3	170784081	170784081	+	Silent	SNP	G	G	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr3:170784081G>A	ENST00000436636.2	-	32	4238	c.3894C>T	c.(3892-3894)ggC>ggT	p.G1298G	TNIK_ENST00000357327.5_Silent_p.G1269G|TNIK_ENST00000460047.1_Silent_p.G1235G|TNIK_ENST00000488470.1_Silent_p.G1243G|TNIK_ENST00000284483.8_Silent_p.G1290G|TNIK_ENST00000470834.1_Silent_p.G1261G|TNIK_ENST00000538048.1_Silent_p.G1250G|TNIK_ENST00000369326.5_Silent_p.G1276G|TNIK_ENST00000475336.1_Silent_p.G1206G|TNIK_ENST00000464785.1_5'Flank|TNIK_ENST00000341852.6_Silent_p.G1214G	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1298	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TAGCTTTCTCGCCCCAGCCCA	0.393																																						dbGAP											0													87.0	82.0	83.0					3																	170784081		1861	4109	5970	-	-	-	SO:0001819	synonymous_variant	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3894C>T	3.37:g.170784081G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.G1298	ENST00000436636.2	37	c.3894	CCDS46956.1	3																																																																																			TNIK	-	pfam_Citron,smart_Citron	ENSG00000154310		0.393	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	296	0.00	0	G	XM_039796		170784081	170784081	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	silent	237	31.82	112	SNP	1.000	A
WDR33	55339	genome.wustl.edu	37	2	128522166	128522166	+	Intron	SNP	C	C	T	rs557391879		TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr2:128522166C>T	ENST00000322313.4	-	6	785				WDR33_ENST00000409658.3_Missense_Mutation_p.A288T|WDR33_ENST00000393006.1_Intron	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33						mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTGCAAAATGCGGCAGACAGT	0.343																																						dbGAP											0													44.0	43.0	43.0					2																	128522166		1116	2180	3296	-	-	-	SO:0001627	intron_variant	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.626+235G>A	2.37:g.128522166C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A288T	ENST00000322313.4	37	c.862	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	1.183	-0.637615	0.03557	.	.	ENSG00000136709	ENST00000409658	T	0.38240	1.15	5.91	2.69	0.31865	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.23162	N	0.998193	B	0.12630	0.006	B	0.08055	0.003	T	0.31475	-0.9942	8	0.09338	T	0.73	.	8.1008	0.30857	0.0:0.6402:0.0:0.3598	.	288	Q9C0J8-2	.	T	288	ENSP00000387186:A288T	ENSP00000387186:A288T	A	-	1	0	WDR33	128238636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.096000	0.30976	0.233000	0.21120	0.655000	0.94253	GCA	WDR33	-	NULL	ENSG00000136709		0.343	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	102	0.00	0	C	NM_018383		128522166	128522166	-1	no_errors	ENST00000409658	ensembl	human	known	69_37n	missense	65	37.50	39	SNP	1.000	T
XPNPEP3	63929	genome.wustl.edu	37	22	41310322	41310322	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr22:41310322A>G	ENST00000357137.4	+	7	1133	c.1049A>G	c.(1048-1050)aAt>aGt	p.N350S	snoU13_ENST00000459164.1_RNA|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.N327S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	350					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGCCAGTCAATGGCAGGTAG	0.443																																					Ovarian(145;306 1841 7037 21878 30110)	dbGAP											0													163.0	126.0	139.0					22																	41310322		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1049A>G	22.37:g.41310322A>G	ENSP00000349658:p.Asn350Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.N350S	ENST00000357137.4	37	c.1049	CCDS14007.1	22	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537278	0.45176	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.75704	-0.96;-0.96	5.67	3.55	0.40652	Peptidase M24, structural domain (3);	0.084489	0.85682	N	0.000000	T	0.65502	0.2697	L	0.28608	0.87	0.53688	D	0.99997	P	0.43231	0.801	P	0.45610	0.487	T	0.59096	-0.7518	10	0.33141	T	0.24	-13.8389	9.7007	0.40184	0.8594:0.0:0.1406:0.0	.	350	Q9NQH7	XPP3_HUMAN	S	350;327	ENSP00000349658:N350S;ENSP00000441942:N327S	ENSP00000349658:N350S	N	+	2	0	XPNPEP3	39640268	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.959000	0.56744	0.427000	0.26145	0.454000	0.30748	AAT	XPNPEP3	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000196236		0.443	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP3	HGNC	protein_coding	OTTHUMT00000322201.2	305	0.00	0	A	NM_022098		41310322	41310322	+1	no_errors	ENST00000357137	ensembl	human	known	69_37n	missense	132	47.83	121	SNP	1.000	G
XRRA1	143570	genome.wustl.edu	37	11	74651907	74651907	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr11:74651907A>C	ENST00000340360.6	-	3	348	c.17T>G	c.(16-18)aTc>aGc	p.I6S	XRRA1_ENST00000533598.1_Intron|XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Missense_Mutation_p.I6S	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CAGCTTGTAGATTCCTGAGAA	0.522																																						dbGAP											0													54.0	54.0	54.0					11																	74651907		2138	4264	6402	-	-	-	SO:0001583	missense	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.17T>G	11.37:g.74651907A>C	ENSP00000339918:p.Ile6Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I6S	ENST00000340360.6	37	c.17	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	A	13.81	2.348359	0.41599	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.54071	0.6;0.59;0.74	5.28	4.15	0.48705	.	0.527055	0.16216	N	0.224227	T	0.43919	0.1269	L	0.44542	1.39	0.27192	N	0.960384	B;B	0.19583	0.011;0.037	B;B	0.15052	0.002;0.012	T	0.41342	-0.9514	10	0.62326	D	0.03	-1.8962	9.2448	0.37518	0.7965:0.2035:0.0:0.0	.	6;6	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	S	6	ENSP00000339918:I6S;ENSP00000435838:I6S;ENSP00000437334:I6S	ENSP00000339918:I6S	I	-	2	0	XRRA1	74329555	0.962000	0.33011	0.961000	0.40146	0.949000	0.60115	2.866000	0.48420	0.944000	0.37579	0.460000	0.39030	ATC	XRRA1	-	NULL	ENSG00000166435		0.522	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	114	0.00	0	A	NM_182969		74651907	74651907	-1	no_errors	ENST00000340360	ensembl	human	known	69_37n	missense	102	15.00	18	SNP	0.928	C
NKIRAS2	28511	genome.wustl.edu	37	17	40180151	40180151	+	IGR	SNP	G	G	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr17:40180151G>A	ENST00000307641.5	+	0	2945				ZNF385C_ENST00000461831.1_5'UTR|ZNF385C_ENST00000436535.3_Missense_Mutation_p.R362W	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGGCCGCCCCGGCCCCCTGTG	0.672																																						dbGAP											0													20.0	27.0	25.0					17																	40180151		2194	4283	6477	-	-	-	SO:0001628	intergenic_variant	0			AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503		17.37:g.40180151G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.R362W	ENST00000307641.5	37	c.1084	CCDS11415.1	17	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626259	0.46840	.	.	ENSG00000187595	ENST00000436535;ENST00000453355	T	0.44083	0.93	5.18	3.06	0.35304	.	0.473349	0.21936	N	0.066954	T	0.35508	0.0934	N	0.19112	0.55	0.23572	N	0.997385	D	0.64830	0.994	P	0.50192	0.634	T	0.16041	-1.0416	10	0.51188	T	0.08	-9.8215	12.0694	0.53607	0.0:0.0:0.4545:0.5455	.	280	Q66K41	Z385C_HUMAN	W	362	ENSP00000411514:R362W	ENSP00000411514:R362W	R	-	1	2	ZNF385C	37433677	0.416000	0.25424	0.002000	0.10522	0.197000	0.23852	2.915000	0.48805	1.195000	0.43115	-0.127000	0.14921	CGG	ZNF385C	-	NULL	ENSG00000187595		0.672	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF385C	HGNC	protein_coding	OTTHUMT00000257457.1	31	0.00	0	G	NM_017595		40180151	40180151	-1	no_errors	ENST00000436535	ensembl	human	novel	69_37n	missense	11	60.71	17	SNP	0.492	A
ZNF668	79759	genome.wustl.edu	37	16	31073089	31073089	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15H-01A-11D-A12B-09	TCGA-E2-A15H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7875c5b3-ced2-4669-a3d5-45739b850af7	3735d9c3-f6d1-45f4-b26b-3a3acfc31e1b	g.chr16:31073089G>A	ENST00000538906.1	-	3	1944	c.1160C>T	c.(1159-1161)tCg>tTg	p.S387L	ZNF668_ENST00000535577.1_Missense_Mutation_p.S387L|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000539836.3_Missense_Mutation_p.S410L|ZNF668_ENST00000417110.2_Missense_Mutation_p.E93K|ZNF668_ENST00000394983.2_Missense_Mutation_p.S387L|ZNF668_ENST00000426488.2_Missense_Mutation_p.S410L|ZNF668_ENST00000300849.4_Missense_Mutation_p.S387L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGCTCCCCCGAGTGCACCCG	0.667																																					Colon(181;1111 1980 5060 10512 25785)	dbGAP											0													87.0	93.0	91.0					16																	31073089		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1160C>T	16.37:g.31073089G>A	ENSP00000440149:p.Ser387Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S410L	ENST00000538906.1	37	c.1229	CCDS10701.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.989909|2.989909	0.54041|0.54041	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|T;T;T;T;T	.|0.18960	.|2.18;2.18;2.18;2.18;2.18	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.155379	.|0.44483	.|D	.|0.000452	T|T	0.36524|0.36524	0.0970|0.0970	L|L	0.41492|0.41492	1.28|1.28	0.46167|0.46167	D|D	0.998901|0.998901	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	T|T	0.05582|0.05582	-1.0876|-1.0876	6|10	0.87932|0.87932	D|D	0|0	-15.3503|-15.3503	13.2021|13.2021	0.59774|0.59774	0.0:0.1603:0.8397:0.0|0.0:0.1603:0.8397:0.0	.|.	.|387	.|Q96K58	.|ZN668_HUMAN	K|L	93|410;387;387;387;387	.|ENSP00000442573:S410L;ENSP00000441349:S387L;ENSP00000440149:S387L;ENSP00000378434:S387L;ENSP00000300849:S387L	ENSP00000391989:E93K|ENSP00000300849:S387L	E|S	+|-	1|2	0|0	AC135050.1|ZNF668	30980590|30980590	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.002000|0.002000	0.02628|0.02628	9.284000|9.284000	0.95882|0.95882	2.639000|2.639000	0.89480|0.89480	0.557000|0.557000	0.71058|0.71058	GAG|TCG	ZNF668	-	pfscan_Znf_C2H2	ENSG00000167394		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	15	0.00	0	G	NM_024706		31073089	31073089	-1	no_errors	ENST00000426488	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.997	A
