#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
A2M	2	genome.wustl.edu	37	12	9230409	9230409	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr12:9230409T>C	ENST00000318602.7	-	26	3471	c.3164A>G	c.(3163-3165)tAc>tGc	p.Y1055C	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1055					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GATGAAGATGTAGGCTCGAGC	0.478																																						dbGAP											0													123.0	127.0	126.0					12																	9230409		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3164A>G	12.37:g.9230409T>C	ENSP00000323929:p.Tyr1055Cys		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.Y1055C	ENST00000318602.7	37	c.3164	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544705	0.45280	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.40225	1.04	5.54	4.37	0.52481	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.537910	0.19608	N	0.110205	T	0.72070	0.3415	H	0.95850	3.73	0.09310	N	0.999995	D	0.71674	0.998	D	0.69479	0.964	T	0.67998	-0.5525	10	0.87932	D	0	.	9.8422	0.41006	0.3288:0.0:0.0:0.6712	.	1055	P01023	A2MG_HUMAN	C	1055;1070	ENSP00000323929:Y1055C	ENSP00000323929:Y1055C	Y	-	2	0	A2M	9121676	0.076000	0.21285	0.028000	0.17463	0.927000	0.56198	0.853000	0.27777	0.896000	0.36366	0.477000	0.44152	TAC	A2M	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000175899		0.478	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	275	0.00	0	T	NM_000014		9230409	9230409	-1	no_errors	ENST00000318602	ensembl	human	known	69_37n	missense	292	16.33	57	SNP	0.143	C
BIRC8	112401	genome.wustl.edu	37	19	53793366	53793366	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr19:53793366C>G	ENST00000426466.1	-	1	1509	c.262G>C	c.(262-264)Gag>Cag	p.E88Q		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	88					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AGAGCTCCCTCAAGTGAACGG	0.388																																						dbGAP											0													205.0	195.0	198.0					19																	53793366		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.262G>C	19.37:g.53793366C>G	ENSP00000412957:p.Glu88Gln		Q6IPY1|Q96RW5	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.E88Q	ENST00000426466.1	37	c.262	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	C	1.141	-0.649551	0.03506	.	.	ENSG00000163098	ENST00000426466	T	0.37058	1.22	0.502	0.502	0.16932	.	.	.	.	.	T	0.27134	0.0665	L	0.50333	1.59	0.09310	N	0.999998	B	0.15141	0.012	B	0.10450	0.005	T	0.30031	-0.9992	8	0.13853	T	0.58	.	.	.	.	.	88	Q96P09	BIRC8_HUMAN	Q	88	ENSP00000412957:E88Q	ENSP00000412957:E88Q	E	-	1	0	BIRC8	58485178	0.001000	0.12720	0.055000	0.19348	0.042000	0.13812	-0.657000	0.05335	0.578000	0.29487	0.420000	0.28162	GAG	BIRC8	-	NULL	ENSG00000163098		0.388	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	524	0.00	0	C	NM_033341		53793366	53793366	-1	no_errors	ENST00000426466	ensembl	human	known	69_37n	missense	1590	17.61	340	SNP	0.531	G
C11orf40	143501	genome.wustl.edu	37	11	4593466	4593466	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr11:4593466G>C	ENST00000307616.1	-	3	366	c.367C>G	c.(367-369)Cta>Gta	p.L123V		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	123										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCACAGGTAGAGGGGCTGAG	0.443																																						dbGAP											0													130.0	118.0	122.0					11																	4593466		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.367C>G	11.37:g.4593466G>C	ENSP00000302918:p.Leu123Val			Missense_Mutation	SNP	NULL	p.L123V	ENST00000307616.1	37	c.367	CCDS31354.1	11	.	.	.	.	.	.	.	.	.	.	G	5.857	0.342379	0.11069	.	.	ENSG00000171987	ENST00000307616	T	0.55930	0.49	0.69	0.69	0.18039	.	.	.	.	.	T	0.43590	0.1254	N	0.08118	0	0.09310	N	1	P	0.49696	0.927	P	0.56563	0.801	T	0.34104	-0.9842	8	0.87932	D	0	.	.	.	.	.	123	Q8WZ69	CK040_HUMAN	V	123	ENSP00000302918:L123V	ENSP00000302918:L123V	L	-	1	2	C11orf40	4550042	0.000000	0.05858	0.256000	0.24389	0.141000	0.21300	-0.247000	0.08866	0.643000	0.30638	0.397000	0.26171	CTA	C11orf40	-	NULL	ENSG00000171987		0.443	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf40	HGNC	protein_coding	OTTHUMT00000383529.1	249	0.00	0	G	NM_144663		4593466	4593466	-1	no_errors	ENST00000307616	ensembl	human	known	69_37n	missense	266	12.50	38	SNP	0.286	C
C9orf114	51490	genome.wustl.edu	37	9	131587316	131587316	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr9:131587316C>T	ENST00000361256.5	-	8	692	c.652G>A	c.(652-654)Gac>Aac	p.D218N		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	218							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						AGGTTCTTGTCAATCTTCACC	0.607																																						dbGAP											0													22.0	22.0	22.0					9																	131587316		2196	4294	6490	-	-	-	SO:0001583	missense	0				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.652G>A	9.37:g.131587316C>T	ENSP00000354812:p.Asp218Asn		Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.D218N	ENST00000361256.5	37	c.652	CCDS6913.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.316726	0.95682	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.45668	0.89	5.6	5.6	0.85130	Nucleic acid-binding, OB-fold-like (1);	0.085855	0.85682	D	0.000000	T	0.67608	0.2911	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.69964	-0.5002	10	0.87932	D	0	-13.8655	19.0151	0.92890	0.0:1.0:0.0:0.0	.	217;218	E7ESY7;Q5T280	.;CI114_HUMAN	N	218;217	ENSP00000354812:D218N	ENSP00000354812:D218N	D	-	1	0	C9orf114	130627137	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.042000	0.76565	2.817000	0.96982	0.549000	0.68633	GAC	C9orf114	-	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	ENSG00000198917		0.607	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	101	0.00	0	C	NM_016390		131587316	131587316	-1	no_errors	ENST00000361256	ensembl	human	known	69_37n	missense	90	21.05	24	SNP	1.000	T
CAMK1	8536	genome.wustl.edu	37	3	9803438	9803438	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr3:9803438C>T	ENST00000256460.3	-	6	610	c.433G>A	c.(433-435)Gag>Aag	p.E145K	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGCAGATTCTCTGGCTTGAAG	0.532																																						dbGAP											0													55.0	55.0	55.0					3																	9803438		2203	4300	6503	-	-	-	SO:0001583	missense	0			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.433G>A	3.37:g.9803438C>T	ENSP00000256460:p.Glu145Lys		Q3KPF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E145K	ENST00000256460.3	37	c.433	CCDS2582.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.490749	0.96339	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.68624	0.82;-0.34	4.58	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82309	0.5009	M	0.88105	2.93	0.80722	D	1	P	0.41498	0.752	P	0.53954	0.738	D	0.86146	0.1584	10	0.72032	D	0.01	-27.6926	17.752	0.88438	0.0:1.0:0.0:0.0	.	145	Q14012	KCC1A_HUMAN	K	145;101	ENSP00000256460:E145K;ENSP00000404587:E101K	ENSP00000256460:E145K	E	-	1	0	CAMK1	9778438	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.719000	0.84751	2.255000	0.74692	0.655000	0.94253	GAG	CAMK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000134072		0.532	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1	HGNC	protein_coding	OTTHUMT00000250206.1	134	0.00	0	C	NM_003656		9803438	9803438	-1	no_errors	ENST00000256460	ensembl	human	known	69_37n	missense	212	17.19	44	SNP	1.000	T
CCDC88B	283234	genome.wustl.edu	37	11	64111763	64111763	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr11:64111763G>A	ENST00000356786.5	+	14	1794	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	584						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTCCTGTGGAGACACAGGA	0.637																																						dbGAP											0													38.0	43.0	41.0					11																	64111763		2201	4297	6498	-	-	-	SO:0001583	missense	0			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1750G>A	11.37:g.64111763G>A	ENSP00000349238:p.Glu584Lys		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_HOOK	p.E584K	ENST00000356786.5	37	c.1750	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	g	18.31	3.596338	0.66332	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.26518	1.73	3.78	2.86	0.33363	.	.	.	.	.	T	0.16811	0.0404	L	0.29908	0.895	0.80722	D	1	B;B;B	0.31077	0.307;0.073;0.307	B;B;B	0.27380	0.079;0.073;0.079	T	0.05903	-1.0857	9	0.35671	T	0.21	.	9.7043	0.40207	0.1095:0.0:0.8904:0.0	.	584;233;584	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	K	584	ENSP00000349238:E584K	ENSP00000349238:E584K	E	+	1	0	CCDC88B	63868339	0.002000	0.14202	0.015000	0.15790	0.616000	0.37450	1.174000	0.31932	0.896000	0.36366	0.450000	0.29827	GAG	CCDC88B	-	NULL	ENSG00000168071		0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	28	0.00	0	G	NM_032251		64111763	64111763	+1	no_errors	ENST00000356786	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.825	A
COL6A3	1293	genome.wustl.edu	37	2	238303252	238303252	+	Silent	SNP	C	C	T			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr2:238303252C>T	ENST00000295550.4	-	3	1139	c.687G>A	c.(685-687)acG>acA	p.T229T	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Silent_p.T229T|COL6A3_ENST00000347401.3_Silent_p.T229T|COL6A3_ENST00000392004.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	229	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAAGGGTTTCCGTGTCCCCAG	0.488																																						dbGAP											0													131.0	114.0	120.0					2																	238303252		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.687G>A	2.37:g.238303252C>T			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.T229	ENST00000295550.4	37	c.687	CCDS33412.1	2																																																																																			COL6A3	-	NULL	ENSG00000163359		0.488	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	261	0.00	0	C	NM_004369		238303252	238303252	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	silent	244	25.61	84	SNP	0.722	T
DMD	1756	genome.wustl.edu	37	X	32717338	32717338	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chrX:32717338T>C	ENST00000357033.4	-	8	928	c.722A>G	c.(721-723)cAa>cGa	p.Q241R	DMD_ENST00000288447.4_Missense_Mutation_p.Q233R|DMD_ENST00000378677.2_Missense_Mutation_p.Q237R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	241					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTCACTTGTTGAGGCAAAAC	0.388																																						dbGAP											0													225.0	166.0	186.0					X																	32717338		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.722A>G	X.37:g.32717338T>C	ENSP00000354923:p.Gln241Arg		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q241R	ENST00000357033.4	37	c.722	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	t	22.3	4.274009	0.80580	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.73469	0.06;0.06;-0.75	5.57	5.57	0.84162	.	0.000000	0.35772	U	0.002992	T	0.80803	0.4693	M	0.66939	2.045	0.80722	D	1	P;P;P;P	0.51791	0.868;0.948;0.631;0.913	B;P;B;P	0.54140	0.341;0.743;0.128;0.558	T	0.81362	-0.0967	10	0.45353	T	0.12	.	14.7239	0.69329	0.0:0.0:0.0:1.0	.	233;233;241;237	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	R	233;237;241;241;118;233	ENSP00000367948:Q237R;ENSP00000354923:Q241R;ENSP00000288447:Q233R	ENSP00000288447:Q233R	Q	-	2	0	DMD	32627259	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.542000	0.82095	1.858000	0.53909	0.412000	0.27726	CAA	DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	392	0.00	0	T	NM_004006		32717338	32717338	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	517	13.55	81	SNP	1.000	C
EMC1	23065	genome.wustl.edu	37	1	19559537	19559537	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr1:19559537C>T	ENST00000477853.1	-	14	1567	c.1525G>A	c.(1525-1527)Gct>Act	p.A509T	EMC1_ENST00000375208.3_Missense_Mutation_p.A487T|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.A508T	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	509						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GGCTTCCGAGCATCATAAAAC	0.493																																						dbGAP											0													125.0	132.0	129.0					1																	19559537		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1525G>A	1.37:g.19559537C>T	ENSP00000420608:p.Ala509Thr		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.A509T	ENST00000477853.1	37	c.1525	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.56|19.56	3.849960|3.849960	0.71603|0.71603	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.25749|.	1.79;1.79;1.78|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.046724|.	0.85682|.	D|.	0.000000|.	T|T	0.71896|0.71896	0.3394|0.3394	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.27351|.	0.113;0.029;0.176;0.11|.	B;B;B;B|.	0.22386|.	0.039;0.023;0.037;0.016|.	T|T	0.68961|0.68961	-0.5271|-0.5271	10|5	0.11485|.	T|.	0.65|.	.|.	17.6394|17.6394	0.88131|0.88131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	487;508;508;509|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	T|Y	509;508;487|242	ENSP00000420608:A509T;ENSP00000364345:A508T;ENSP00000364354:A487T|.	ENSP00000364345:A508T|.	A|C	-|-	1|2	0|0	KIAA0090|KIAA0090	19432124|19432124	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.313000|7.313000	0.78978|0.78978	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GCT|TGC	EMC1	-	NULL	ENSG00000127463		0.493	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	201	0.00	0	C	NM_015047		19559537	19559537	-1	no_errors	ENST00000477853	ensembl	human	known	69_37n	missense	210	13.93	34	SNP	1.000	T
FRAS1	80144	genome.wustl.edu	37	4	79396611	79396611	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr4:79396611G>A	ENST00000264895.6	+	54	8142	c.7702G>A	c.(7702-7704)Gca>Aca	p.A2568T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2568	Calx-beta 1.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGTGAGAAGGCAGGGTCTGT	0.507																																						dbGAP											0													116.0	129.0	125.0					4																	79396611		2088	4223	6311	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7702G>A	4.37:g.79396611G>A	ENSP00000264895:p.Ala2568Thr		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.A2568T	ENST00000264895.6	37	c.7702	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.800366|4.800366	0.90538|0.90538	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.29397|.	1.57|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.058402|.	0.64402|.	D|.	0.000002|.	T|T	0.73125|0.73125	0.3547|0.3547	L|L	0.60904|0.60904	1.88|1.88	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.74674|.	0.984|.	T|T	0.70317|0.70317	-0.4905|-0.4905	10|5	0.41790|.	T|.	0.15|.	.|.	19.2863|19.2863	0.94072|0.94072	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2568|.	E9PHH6|.	.|.	T|D	2568|796	ENSP00000264895:A2568T|.	ENSP00000264895:A2568T|.	A|G	+|+	1|2	0|0	FRAS1|FRAS1	79615635|79615635	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.890000|7.890000	0.87313|0.87313	2.558000|2.558000	0.86282|0.86282	0.591000|0.591000	0.81541|0.81541	GCA|GGC	FRAS1	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000138759		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		211	0.00	0	G			79396611	79396611	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	267	19.34	64	SNP	1.000	A
ENOPH1	58478	genome.wustl.edu	37	4	83375938	83375938	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr4:83375938C>G	ENST00000273920.3	+	4	721	c.453C>G	c.(451-453)atC>atG	p.I151M	ENOPH1_ENST00000509635.1_Missense_Mutation_p.I63M	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						AGGTGTACATCTATTCCTCAG	0.448																																						dbGAP											0													266.0	245.0	252.0					4																	83375938		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.453C>G	4.37:g.83375938C>G	ENSP00000273920:p.Ile151Met			Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_Enolase_ppase,tigrfam_HAD-SF_hydro_IA_v1	p.I151M	ENST00000273920.3	37	c.453	CCDS3594.1	4	.	.	.	.	.	.	.	.	.	.	c	18.02	3.530634	0.64860	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	T;T	0.08458	3.09;3.09	5.74	3.65	0.41850	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.089897	0.85682	D	0.000000	T	0.25232	0.0613	M	0.90252	3.1	0.58432	D	0.999999	P	0.51240	0.943	P	0.55161	0.77	T	0.02774	-1.1112	10	0.87932	D	0	-10.6598	7.9293	0.29893	0.0:0.6808:0.0:0.3192	.	151	Q9UHY7	ENOPH_HUMAN	M	151;151;63	ENSP00000273920:I151M;ENSP00000422005:I63M	ENSP00000273920:I151M	I	+	3	3	ENOPH1	83594962	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.237000	0.32695	1.575000	0.49775	0.650000	0.86243	ATC	ENOPH1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_Enolase_ppase,tigrfam_HAD-SF_hydro_IA_v1	ENSG00000145293		0.448	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOPH1	HGNC	protein_coding	OTTHUMT00000252638.2	464	0.00	0	C	NM_021204		83375938	83375938	+1	no_errors	ENST00000273920	ensembl	human	known	69_37n	missense	651	18.11	144	SNP	1.000	G
ITGAX	3687	genome.wustl.edu	37	16	31393187	31393187	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr16:31393187G>A	ENST00000268296.4	+	30	3572	c.3451G>A	c.(3451-3453)Gaa>Aaa	p.E1151K	ITGAX_ENST00000562522.1_Missense_Mutation_p.E1151K	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1151					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AATTGCCCCAGAAAACGGGAC	0.537																																						dbGAP											0													141.0	149.0	146.0					16																	31393187		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3451G>A	16.37:g.31393187G>A	ENSP00000268296:p.Glu1151Lys		Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.E1151K	ENST00000268296.4	37	c.3451	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235635	0.22626	.	.	ENSG00000140678	ENST00000268296	T	0.60299	0.2	5.33	2.19	0.27852	.	.	.	.	.	T	0.40272	0.1110	L	0.33485	1.01	0.09310	N	1	P;B	0.35077	0.483;0.014	B;B	0.30943	0.122;0.006	T	0.29640	-1.0005	9	0.54805	T	0.06	.	4.715	0.12891	0.0873:0.1504:0.6074:0.1549	.	1151;336	P20702;Q8TES5	ITAX_HUMAN;.	K	1151	ENSP00000268296:E1151K	ENSP00000268296:E1151K	E	+	1	0	ITGAX	31300688	0.183000	0.23186	0.003000	0.11579	0.077000	0.17291	2.067000	0.41461	0.704000	0.31869	0.591000	0.81541	GAA	ITGAX	-	NULL	ENSG00000140678		0.537	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	268	0.37	1	G	NM_000887		31393187	31393187	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	missense	344	22.12	98	SNP	0.001	A
KLHL35	283212	genome.wustl.edu	37	11	75133746	75133746	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr11:75133746C>T	ENST00000539798.1	-	6	1629	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K	KLHL35_ENST00000376292.4_Missense_Mutation_p.E324K	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	544										lung(2)|stomach(1)	3						TCGGTGCTTTCTCCGCGATCA	0.587																																					Colon(77;683 1691 18820 23811)	dbGAP											0													96.0	100.0	99.0					11																	75133746		2065	4205	6270	-	-	-	SO:0001583	missense	0				CCDS44685.1, CCDS44685.2	11q13.4	2013-02-22	2013-02-22		ENSG00000149243	ENSG00000149243		"""Kelch-like"", ""BTB/POZ domain containing"""	26597	protein-coding gene	gene with protein product			"""kelch-like 35 (Drosophila)"""				Standard	NM_001039548		Approved	FLJ33790	uc001owm.2	Q6PF15	OTTHUMG00000133573	ENST00000539798.1:c.1630G>A	11.37:g.75133746C>T	ENSP00000438526:p.Glu544Lys		A2RU06|F5H412|Q86XM7|Q8NBB1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E544K	ENST00000539798.1	37	c.1630	CCDS44685.2	11	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799763	0.90538	.	.	ENSG00000149243	ENST00000376292;ENST00000539798	T;T	0.77489	-1.1;-1.1	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.309858	0.31071	N	0.008304	T	0.80221	0.4583	L	0.39633	1.23	0.53005	D	0.999961	P	0.48640	0.913	P	0.54100	0.742	T	0.79120	-0.1934	10	0.41790	T	0.15	.	17.1127	0.86680	0.0:1.0:0.0:0.0	.	324	Q6PF15	KLH35_HUMAN	K	324;544	ENSP00000365469:E324K;ENSP00000438526:E544K	ENSP00000365469:E324K	E	-	1	0	KLHL35	74811394	0.998000	0.40836	1.000000	0.80357	0.358000	0.29455	3.694000	0.54742	2.646000	0.89796	0.655000	0.94253	GAA	KLHL35	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000149243		0.587	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL35	HGNC	protein_coding		71	0.00	0	C	NM_173583		75133746	75133746	-1	no_errors	ENST00000539798	ensembl	human	known	69_37n	missense	94	12.15	13	SNP	1.000	T
MAPKAPK3	7867	genome.wustl.edu	37	3	50679183	50679183	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr3:50679183C>A	ENST00000446044.1	+	6	1001	c.405C>A	c.(403-405)gaC>gaA	p.D135E	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.D135E	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCGTGGCGACCAGGCTTTCA	0.522																																						dbGAP											0													240.0	189.0	206.0					3																	50679183		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.405C>A	3.37:g.50679183C>A	ENSP00000396467:p.Asp135Glu		B5BU67	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.D135E	ENST00000446044.1	37	c.405	CCDS2832.1	3	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550311	0.45383	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.63580	-0.05;-0.05;-0.05	5.44	3.64	0.41730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	N	0.16037	0.36	0.58432	D	0.999995	B	0.28055	0.199	B	0.19946	0.027	T	0.24905	-1.0147	10	0.41790	T	0.15	-40.9894	11.9534	0.52968	0.0:0.8552:0.0:0.1448	.	135	Q16644	MAPK3_HUMAN	E	135	ENSP00000396467:D135E;ENSP00000410970:D135E;ENSP00000350639:D135E	ENSP00000350639:D135E	D	+	3	2	MAPKAPK3	50654187	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.206000	0.42779	0.646000	0.30693	-0.136000	0.14681	GAC	MAPKAPK3	-	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	ENSG00000114738		0.522	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAPKAPK3	HGNC	protein_coding	OTTHUMT00000346237.1	378	0.00	0	C	NM_004635		50679183	50679183	+1	no_errors	ENST00000357955	ensembl	human	known	69_37n	missense	648	11.92	88	SNP	1.000	A
NDUFAF1	51103	genome.wustl.edu	37	15	41687218	41687219	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr15:41687218_41687219delAA	ENST00000260361.4	-	3	978_979	c.597_598delTT	c.(595-600)tcttacfs	p.Y200fs		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	200					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		GACCAATCGTAAGACATCTTCC	0.431																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.597_598delTT	15.37:g.41687218_41687219delAA	ENSP00000260361:p.Tyr200fs		Q9BVZ5	Frame_Shift_Del	DEL	pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like	p.Y200fs	ENST00000260361.4	37	c.598_597	CCDS10075.1	15																																																																																			NDUFAF1	-	pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like	ENSG00000137806		0.431	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF1	HGNC	protein_coding	OTTHUMT00000252692.2	294	0.00	0	AA	NM_016013		41687218	41687219	-1	no_errors	ENST00000260361	ensembl	human	known	69_37n	frame_shift_del	251	19.25	62	DEL	0.999:0.939	-
OR6C65	403282	genome.wustl.edu	37	12	55794894	55794894	+	Silent	SNP	G	G	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr12:55794894G>A	ENST00000379665.2	+	1	681	c.582G>A	c.(580-582)gaG>gaA	p.E194E		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AGTTTCTAGAGCTTATGGCAT	0.433																																						dbGAP											0													240.0	240.0	240.0					12																	55794894		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.582G>A	12.37:g.55794894G>A			B2RNH9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E194	ENST00000379665.2	37	c.582	CCDS31821.1	12																																																																																			OR6C65	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205328		0.433	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1	464	0.00	0	G			55794894	55794894	+1	no_errors	ENST00000379665	ensembl	human	known	69_37n	silent	581	22.22	166	SNP	0.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952054	178952054	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr3:178952054G>A	ENST00000263967.3	+	21	3266	c.3109G>A	c.(3109-3111)Gag>Aag	p.E1037K	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1037	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E1037K(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAGGCTTTGGAGTATTTCAT	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - Missense(1)	ovary(1)											96.0	85.0	88.0					3																	178952054		1889	4125	6014	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3109G>A	3.37:g.178952054G>A	ENSP00000263967:p.Glu1037Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E1037K	ENST00000263967.3	37	c.3109	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	7.892	0.732535	0.15507	.	.	ENSG00000121879	ENST00000263967	T	0.81415	-1.49	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.052942	0.85682	D	0.000000	T	0.63474	0.2514	N	0.04994	-0.135	0.80722	D	1	B	0.14805	0.011	B	0.13407	0.009	T	0.62435	-0.6855	10	0.02654	T	1	-21.2643	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1037	P42336	PK3CA_HUMAN	K	1037	ENSP00000263967:E1037K	ENSP00000263967:E1037K	E	+	1	0	PIK3CA	180434748	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	GAG	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	206	0.00	0	G			178952054	178952054	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	168	24.22	54	SNP	1.000	A
PRAMEF14	729528	genome.wustl.edu	37	1	13668994	13668994	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr1:13668994G>T	ENST00000344998.3	-	4	1374	c.1192C>A	c.(1192-1194)Cag>Aag	p.Q398K	PRAMEF14_ENST00000602491.1_5'UTR|PRAMEF14_ENST00000334600.6_Missense_Mutation_p.Q446K			Q5SWL7	PRA14_HUMAN	PRAME family member 14	398					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTGGGCTGCCTGACTTCC	0.567																																						dbGAP											0													7.0	9.0	8.0					1																	13668994		1871	3962	5833	-	-	-	SO:0001583	missense	0					1p36.21	2014-04-01			ENSG00000204481	ENSG00000204481		"""-"""	13576	other	unknown							Standard	NM_001024661		Approved	OTTHUMG00000007916		Q5SWL7	OTTHUMG00000007916	ENST00000344998.3:c.1192C>A	1.37:g.13668994G>T	ENSP00000341333:p.Gln398Lys			Missense_Mutation	SNP	NULL	p.Q446K	ENST00000344998.3	37	c.1336		1	.	.	.	.	.	.	.	.	.	.	G	6.006	0.369499	0.11352	.	.	ENSG00000204481	ENST00000344998;ENST00000334600	T;T	0.45276	0.9;0.9	1.69	-0.803	0.10886	.	1.677870	0.03938	N	0.286321	T	0.48732	0.1516	M	0.78916	2.43	0.09310	N	1	P	0.48089	0.905	P	0.47346	0.544	T	0.39663	-0.9603	10	0.59425	D	0.04	.	3.5169	0.07728	0.0:0.2849:0.4264:0.2887	.	398	Q5SWL7	PRA14_HUMAN	K	398;446	ENSP00000341333:Q398K;ENSP00000334410:Q446K	ENSP00000334410:Q446K	Q	-	1	0	PRAMEF14	13541581	0.000000	0.05858	0.001000	0.08648	0.087000	0.18053	0.297000	0.19101	-0.180000	0.10637	0.162000	0.16502	CAG	PRAMEF14	-	NULL	ENSG00000204481		0.567	PRAMEF14-201	KNOWN	basic|appris_candidate	protein_coding	PRAMEF14	HGNC	protein_coding		38	0.00	0	G	NM_001099854		13668994	13668994	-1	no_errors	ENST00000334600	ensembl	human	known	69_37n	missense	83	10.64	10	SNP	0.002	T
PRMT3	10196	genome.wustl.edu	37	11	20486016	20486016	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr11:20486016G>A	ENST00000331079.6	+	13	1488	c.1271G>A	c.(1270-1272)tGc>tAc	p.C424Y	PRMT3_ENST00000437750.2_Missense_Mutation_p.C362Y	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	424	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CATATAGATTGCCATACGACG	0.323																																						dbGAP											0													102.0	101.0	101.0					11																	20486016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1271G>A	11.37:g.20486016G>A	ENSP00000331879:p.Cys424Tyr		B4DUC7	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.C424Y	ENST00000331079.6	37	c.1271	CCDS7853.1	11	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698111	0.68386	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.78246	-1.16;-1.16	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.978;0.979	D	0.89714	0.3914	10	0.72032	D	0.01	-12.6619	19.2235	0.93808	0.0:0.0:1.0:0.0	.	362;424	O60678-2;O60678	.;ANM3_HUMAN	Y	424;424;362	ENSP00000331879:C424Y;ENSP00000397766:C362Y	ENSP00000331879:C424Y	C	+	2	0	PRMT3	20442592	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	6.852000	0.75430	2.838000	0.97847	0.591000	0.81541	TGC	PRMT3	-	pfam_Arg_MeTrfase	ENSG00000185238		0.323	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT3	HGNC	protein_coding	OTTHUMT00000387489.1	304	0.00	0	G	NM_005788		20486016	20486016	+1	no_errors	ENST00000331079	ensembl	human	known	69_37n	missense	251	11.58	33	SNP	1.000	A
RCE1	9986	genome.wustl.edu	37	11	66613002	66613002	+	Silent	SNP	T	T	G			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr11:66613002T>G	ENST00000309657.3	+	7	767	c.723T>G	c.(721-723)ggT>ggG	p.G241G	RCE1_ENST00000525356.1_Silent_p.G118G|RCE1_ENST00000524506.1_Intron	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	241					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTGTCTTCGGTGCCTACACTG	0.597																																						dbGAP											0													157.0	126.0	136.0					11																	66613002		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.723T>G	11.37:g.66613002T>G			Q52LZ9	Silent	SNP	pfam_CAAX_protease	p.G241	ENST00000309657.3	37	c.723	CCDS8151.1	11																																																																																			RCE1	-	pfam_CAAX_protease	ENSG00000173653		0.597	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCE1	HGNC	protein_coding	OTTHUMT00000393105.1	266	0.75	2	T	NM_005133		66613002	66613002	+1	no_errors	ENST00000309657	ensembl	human	known	69_37n	silent	235	37.23	140	SNP	0.997	G
PRCP	5547	genome.wustl.edu	37	11	82536048	82536048	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr11:82536048G>A	ENST00000313010.3	-	9	1585	c.1391C>T	c.(1390-1392)gCc>gTc	p.A464V	PRCP_ENST00000535099.1_Missense_Mutation_p.A359V|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.A485V	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	464					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGGATCCAAGGCATTCTTGGT	0.502																																						dbGAP											0													106.0	98.0	101.0					11																	82536048		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1391C>T	11.37:g.82536048G>A	ENSP00000317362:p.Ala464Val		A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	pfam_Peptidase_S28	p.A485V	ENST00000313010.3	37	c.1454	CCDS8262.1	11	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762571	0.49574	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.14516	2.5;2.5;2.5	5.78	3.87	0.44632	.	0.645994	0.17060	N	0.188608	T	0.14570	0.0352	L	0.49640	1.575	0.09310	N	1	B;B	0.28584	0.216;0.142	B;B	0.32090	0.025;0.14	T	0.14671	-1.0464	9	.	.	.	-0.572	11.0852	0.48082	0.0683:0.0:0.8042:0.1275	.	464;485	P42785;A8MU24	PCP_HUMAN;.	V	464;485;359	ENSP00000317362:A464V;ENSP00000377055:A485V;ENSP00000442077:A359V	.	A	-	2	0	PRCP	82213696	0.045000	0.20229	0.015000	0.15790	0.055000	0.15305	2.074000	0.41529	1.407000	0.46875	0.467000	0.42956	GCC	PRCP	-	pfam_Peptidase_S28	ENSG00000137509		0.502	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	207	0.00	0	G	NM_005040		82536048	82536048	-1	no_errors	ENST00000393399	ensembl	human	known	69_37n	missense	244	21.29	66	SNP	0.032	A
SECISBP2L	9728	genome.wustl.edu	37	15	49309150	49309150	+	Silent	SNP	G	G	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr15:49309150G>A	ENST00000559471.1	-	10	1577	c.1314C>T	c.(1312-1314)acC>acT	p.T438T	SECISBP2L_ENST00000261847.3_Silent_p.T393T	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	438							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TGGGAACTGAGGTGGTAATAG	0.378																																						dbGAP											0													114.0	109.0	111.0					15																	49309150		2197	4295	6492	-	-	-	SO:0001819	synonymous_variant	0			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1314C>T	15.37:g.49309150G>A			Q8N767	Silent	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.T438	ENST00000559471.1	37	c.1314	CCDS53942.1	15																																																																																			SECISBP2L	-	NULL	ENSG00000138593		0.378	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	HGNC	protein_coding	OTTHUMT00000417277.1	410	0.00	0	G	NM_014701		49309150	49309150	-1	no_errors	ENST00000559471	ensembl	human	known	69_37n	silent	391	11.94	53	SNP	0.960	A
SHPRH	257218	genome.wustl.edu	37	6	146276233	146276233	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr6:146276233C>G	ENST00000367505.2	-	2	490	c.226G>C	c.(226-228)Gtg>Ctg	p.V76L	SHPRH_ENST00000438092.2_Missense_Mutation_p.V76L|SHPRH_ENST00000367503.3_Missense_Mutation_p.V76L|SHPRH_ENST00000275233.7_Missense_Mutation_p.V76L			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	76					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AAGCTCACCACTTTTGAACAC	0.378																																						dbGAP											0													139.0	125.0	129.0					6																	146276233		1831	4091	5922	-	-	-	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.226G>C	6.37:g.146276233C>G	ENSP00000356475:p.Val76Leu		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.V76L	ENST00000367505.2	37	c.226	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	C	4.540	0.100313	0.08731	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.29	-10.6	0.00265	.	0.899286	0.09444	N	0.801417	T	0.12220	0.0297	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.17077	-1.0381	10	0.25106	T	0.35	11.6103	7.9519	0.30019	0.696:0.1055:0.0666:0.1319	.	76;76	Q149N8;Q149N8-4	SHPRH_HUMAN;.	L	76	ENSP00000356475:V76L;ENSP00000356473:V76L;ENSP00000412797:V76L;ENSP00000275233:V76L	ENSP00000275233:V76L	V	-	1	0	SHPRH	146317926	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.590000	0.05760	-1.715000	0.01389	0.555000	0.69702	GTG	SHPRH	-	NULL	ENSG00000146414		0.378	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	243	0.41	1	C	NM_173082		146276233	146276233	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	missense	226	12.06	31	SNP	0.000	G
SLC26A9	115019	genome.wustl.edu	37	1	205899028	205899028	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr1:205899028T>C	ENST00000367135.3	-	6	822	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	SLC26A9_ENST00000367134.2_Missense_Mutation_p.I237V|SLC26A9_ENST00000340781.4_Missense_Mutation_p.I237V	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	237					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ACAAAGACGATGGACCCTGGG	0.567																																						dbGAP											0													62.0	56.0	58.0					1																	205899028		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.709A>G	1.37:g.205899028T>C	ENSP00000356103:p.Ile237Val		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I237V	ENST00000367135.3	37	c.709	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	T	2.755	-0.259110	0.05791	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.91894	-2.93;-2.93;-2.93	5.6	5.6	0.85130	Sulphate transporter (1);	0.059343	0.64402	D	0.000004	D	0.86686	0.5992	N	0.25957	0.775	0.41114	D	0.985763	B;B	0.33171	0.4;0.4	B;B	0.34873	0.064;0.191	D	0.84507	0.0620	10	0.17369	T	0.5	.	15.438	0.75162	0.0:0.0:0.0:1.0	.	237;237	Q7LBE3;B1AVM8	S26A9_HUMAN;.	V	237	ENSP00000341682:I237V;ENSP00000356103:I237V;ENSP00000356102:I237V	ENSP00000341682:I237V	I	-	1	0	SLC26A9	204165651	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.413000	0.44618	2.143000	0.66587	0.459000	0.35465	ATC	SLC26A9	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000174502		0.567	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	62	0.00	0	T	NM_052934		205899028	205899028	-1	no_errors	ENST00000340781	ensembl	human	known	69_37n	missense	95	11.93	13	SNP	1.000	C
SLC9A6	10479	genome.wustl.edu	37	X	135126700	135126700	+	Silent	SNP	T	T	A	rs398124223		TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chrX:135126700T>A	ENST00000370698.3	+	16	1862	c.1827T>A	c.(1825-1827)acT>acA	p.T609T	SLC9A6_ENST00000370701.1_Silent_p.T589T|SLC9A6_ENST00000370695.4_Silent_p.T641T	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	609					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTGTGAACACTGAACCGGCCA	0.443																																						dbGAP											0													89.0	84.0	86.0					X																	135126700		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1827T>A	X.37:g.135126700T>A			A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T641	ENST00000370698.3	37	c.1923	CCDS14654.1	X																																																																																			SLC9A6	-	prints_Na/H_exchanger_6	ENSG00000198689		0.443	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	177	0.00	0	T	NM_006359		135126700	135126700	+1	no_errors	ENST00000370695	ensembl	human	known	69_37n	silent	193	18.75	45	SNP	0.053	A
SPEN	23013	genome.wustl.edu	37	1	16262615	16262615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr1:16262615C>T	ENST00000375759.3	+	11	10084	c.9880C>T	c.(9880-9882)Cag>Tag	p.Q3294*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3294	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCATGGGGTGCAGATTGTGCA	0.627																																						dbGAP											0													89.0	93.0	92.0					1																	16262615		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9880C>T	1.37:g.16262615C>T	ENSP00000364912:p.Gln3294*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.Q3294*	ENST00000375759.3	37	c.9880	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	52	18.718995	0.99909	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-14.5606	18.9555	0.92657	0.0:1.0:0.0:0.0	.	.	.	.	X	3294	.	ENSP00000364912:Q3294X	Q	+	1	0	SPEN	16135202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.964000	0.63701	2.465000	0.83290	0.655000	0.94253	CAG	SPEN	-	NULL	ENSG00000065526		0.627	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	57	0.00	0	C	NM_015001		16262615	16262615	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	nonsense	70	19.10	17	SNP	1.000	T
SPRED1	161742	genome.wustl.edu	37	15	38614571	38614571	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr15:38614571G>A	ENST00000299084.4	+	3	1197	c.337G>A	c.(337-339)Gat>Aat	p.D113N	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	113	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAGGGCTTTTGATAGAGGTAT	0.353									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	dbGAP											0													141.0	145.0	144.0					15																	38614571		2200	4297	6497	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.337G>A	15.37:g.38614571G>A	ENSP00000299084:p.Asp113Asn		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.D113N	ENST00000299084.4	37	c.337	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.494674	0.96339	.	.	ENSG00000166068	ENST00000299084	D	0.98550	-4.99	5.71	5.71	0.89125	EVH1 (2);Pleckstrin homology-type (1);	0.097027	0.64402	D	0.000001	D	0.98969	0.9649	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99453	1.0941	10	0.51188	T	0.08	-13.2222	19.8564	0.96761	0.0:0.0:1.0:0.0	.	113	Q7Z699	SPRE1_HUMAN	N	113	ENSP00000299084:D113N	ENSP00000299084:D113N	D	+	1	0	SPRED1	36401863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.704000	0.92352	0.585000	0.79938	GAT	SPRED1	-	pfam_EVH1,smart_EVH1,pfscan_EVH1	ENSG00000166068		0.353	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1	424	0.00	0	G			38614571	38614571	+1	no_errors	ENST00000299084	ensembl	human	known	69_37n	missense	348	12.12	48	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr17:7576855G>A	ENST00000269305.4	-	9	1180	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTAGTACCTGAAGGGTGAAA	0.448		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	34	Substitution - Nonsense(23)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)	lung(6)|large_intestine(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|skin(2)|ovary(2)|stomach(1)|breast(1)|oesophagus(1)											115.0	108.0	110.0					17																	7576855		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.991C>T	17.37:g.7576855G>A	ENSP00000269305:p.Gln331*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q331*	ENST00000269305.4	37	c.991	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117678	0.77323	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.95	2.88	0.33553	.	0.253251	0.40469	N	0.001098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-17.7352	9.751	0.40475	0.0:0.0:0.4869:0.5131	.	.	.	.	X	331;331;331;331;331;320;199	.	ENSP00000269305:Q331X	Q	-	1	0	TP53	7517580	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.858000	0.39408	0.557000	0.29117	-0.314000	0.08810	CAG	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.448	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	374	0.00	0	G	NM_000546		7576855	7576855	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	322	26.15	114	SNP	0.999	A
WNK2	65268	genome.wustl.edu	37	9	96051418	96051418	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A18H-01A-11D-A12B-09	TCGA-BH-A18H-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d3c1b990-aae2-45f8-be28-8ccd192a0fab	7f061cf1-1d86-453c-9817-cf0cba8ea87a	g.chr9:96051418A>C	ENST00000297954.4	+	20	4493	c.4493A>C	c.(4492-4494)gAg>gCg	p.E1498A	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.E1461A|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.E1073A|WNK2_ENST00000349097.3_Missense_Mutation_p.E1110A	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1498					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGCTCCAGAGGCTGCCTCA	0.687																																						dbGAP											0													17.0	18.0	18.0					9																	96051418		2202	4297	6499	-	-	-	SO:0001583	missense	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4493A>C	9.37:g.96051418A>C	ENSP00000297954:p.Glu1498Ala		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1498A	ENST00000297954.4	37	c.4493		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.12|15.12	2.738060|2.738060	0.49045|0.49045	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T|.	0.69435|.	-0.38;-0.4;0.24;0.18|.	5.46|5.46	4.17|4.17	0.49024|0.49024	.|.	0.684160|.	0.15306|.	N|.	0.269349|.	T|T	0.44850|0.44850	0.1313|0.1313	L|L	0.56769|0.56769	1.78|1.78	0.27548|0.27548	N|N	0.950581|0.950581	D;D;P;D;D|.	0.65815|.	0.995;0.991;0.58;0.971;0.991|.	P;P;B;P;P|.	0.60789|.	0.879;0.76;0.196;0.647;0.76|.	T|T	0.35001|0.35001	-0.9806|-0.9806	10|5	0.22109|.	T|.	0.4|.	.|.	8.0265|8.0265	0.30440|0.30440	0.8972:0.0:0.1028:0.0|0.8972:0.0:0.1028:0.0	.|.	1461;1456;1064;1461;1498|.	Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;.;WNK2_HUMAN|.	A|S	1498;1461;1110;1073|1064	ENSP00000297954:E1498A;ENSP00000378860:E1461A;ENSP00000297876:E1110A;ENSP00000411181:E1073A|.	ENSP00000297954:E1498A|.	E|R	+|+	2|3	0|2	WNK2|WNK2	95091239|95091239	0.120000|0.120000	0.22244|0.22244	0.127000|0.127000	0.21898|0.21898	0.027000|0.027000	0.11550|0.11550	0.792000|0.792000	0.26929|0.26929	0.768000|0.768000	0.33290|0.33290	0.459000|0.459000	0.35465|0.35465	GAG|AGA	WNK2	-	NULL	ENSG00000165238		0.687	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	9	0.00	0	A	NM_006648		96051418	96051418	+1	no_errors	ENST00000297954	ensembl	human	known	69_37n	missense	7	53.33	8	SNP	0.054	C
