#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ALDH1A1	216	genome.wustl.edu	37	9	75540487	75540487	+	Silent	SNP	A	A	C			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr9:75540487A>C	ENST00000297785.3	-	6	600	c.546T>G	c.(544-546)ccT>ccG	p.P182P	ALDH1A1_ENST00000376939.1_Silent_p.P182P|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	182					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	AGCTCAGTGCAGGCCCTATCT	0.428																																						dbGAP											0													108.0	93.0	98.0					9																	75540487		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.546T>G	9.37:g.75540487A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00768|Q5SYR1	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.P182	ENST00000297785.3	37	c.546	CCDS6644.1	9																																																																																			ALDH1A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.428	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	230	0.00	0	A			75540487	75540487	-1	no_errors	ENST00000297785	ensembl	human	known	69_37n	silent	252	13.10	38	SNP	0.990	C
ALDOB	229	genome.wustl.edu	37	9	104193120	104193120	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr9:104193120G>A	ENST00000374855.4	-	2	174	c.50C>T	c.(49-51)tCa>tTa	p.S17L	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	17					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGCAATTTCTGAGAGCTCCTT	0.493																																						dbGAP											0													114.0	99.0	104.0					9																	104193120		2203	4300	6503	-	-	-	SO:0001583	missense	0			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.50C>T	9.37:g.104193120G>A	ENSP00000363988:p.Ser17Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	pfam_Aldolase_I	p.S17L	ENST00000374855.4	37	c.50	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081643	0.55753	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.85556	-2.0	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);	0.168809	0.53938	D	0.000045	T	0.81163	0.4765	L	0.49350	1.555	0.80722	D	1	B	0.21753	0.06	B	0.25291	0.059	T	0.73620	-0.3925	10	0.13470	T	0.59	-4.2604	14.6754	0.68975	0.0:0.0:0.8551:0.1449	.	17	P05062	ALDOB_HUMAN	L	17	ENSP00000363988:S17L	ENSP00000363988:S17L	S	-	2	0	ALDOB	103232941	1.000000	0.71417	0.960000	0.40013	0.772000	0.43724	6.647000	0.74354	2.941000	0.99782	0.655000	0.94253	TCA	ALDOB	-	pfam_Aldolase_I	ENSG00000136872		0.493	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	317	0.00	0	G			104193120	104193120	-1	no_errors	ENST00000374855	ensembl	human	known	69_37n	missense	312	14.52	53	SNP	0.986	A
ATP9A	10079	genome.wustl.edu	37	20	50329531	50329532	+	Frame_Shift_Ins	INS	-	-	G			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr20:50329531_50329532insG	ENST00000338821.5	-	4	673_674	c.409_410insC	c.(409-411)cagfs	p.Q137fs	ATP9A_ENST00000402822.1_Frame_Shift_Ins_p.Q137fs|ATP9A_ENST00000311637.5_Frame_Shift_Ins_p.Q122fs	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	137					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTGTAGACCTGGGAGTTGACT	0.619											OREG0026044	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.410dupC	20.37:g.50329534_50329534dupG	ENSP00000342481:p.Gln137fs	Somatic	968	WXS	Illumina GAIIx	Phase_IV	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.Q137fs	ENST00000338821.5	37	c.410_409	CCDS33489.1	20																																																																																			ATP9A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000054793		0.619	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	91	0.00	0	-	NM_006045		50329531	50329532	-1	no_errors	ENST00000338821	ensembl	human	known	69_37n	frame_shift_ins	72	16.28	14	INS	1.000:1.000	G
MTURN	222166	genome.wustl.edu	37	7	30197080	30197080	+	Silent	SNP	C	C	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr7:30197080C>T	ENST00000324453.8	+	3	639	c.312C>T	c.(310-312)gaC>gaT	p.D104D	C7orf41_ENST00000409688.1_Silent_p.D63D|C7orf41_ENST00000324489.5_Silent_p.D71D|AC007036.5_ENST00000511893.1_RNA|C7orf41_ENST00000455738.1_Silent_p.D71D|C7orf41_ENST00000415604.1_Silent_p.D104D	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		104					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						ATGCAGATGACGATGCGTTTG	0.567																																						dbGAP											0													158.0	169.0	165.0					7																	30197080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000324453.8:c.312C>T	7.37:g.30197080C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Silent	SNP	NULL	p.D104	ENST00000324453.8	37	c.312	CCDS5425.2	7																																																																																			C7orf41	-	NULL	ENSG00000180354		0.567	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf41	HGNC	protein_coding	OTTHUMT00000250409.1	232	0.00	0	C			30197080	30197080	+1	no_errors	ENST00000324453	ensembl	human	known	69_37n	silent	147	37.97	90	SNP	0.972	T
CCDC115	84317	genome.wustl.edu	37	2	131099725	131099727	+	5'UTR	DEL	CTT	CTT	-			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr2:131099725_131099727delCTT	ENST00000259229.2	-	0	195_197				IMP4_ENST00000259239.3_5'Flank|IMP4_ENST00000409935.1_5'Flank|CCDC115_ENST00000409127.1_In_Frame_Del_p.K26del|CCDC115_ENST00000437688.2_In_Frame_Del_p.K26del	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115							endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CTGGAGCCACCTTCTTCCTTGTC	0.631																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.-29AAG>-	2.37:g.131099728_131099730delCTT		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ47|Q9BR88	In_Frame_Del	DEL	NULL	p.K26in_frame_del	ENST00000259229.2	37	c.78_76	CCDS2159.1	2																																																																																			CCDC115	-	NULL	ENSG00000136710		0.631	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC115	HGNC	protein_coding	OTTHUMT00000254524.2	55	0.00	0	CTT	NM_032357		131099725	131099727	-1	no_errors	ENST00000437688	ensembl	human	known	69_37n	in_frame_del	34	20.93	9	DEL	0.000:0.000:0.000	-
CD1E	913	genome.wustl.edu	37	1	158326560	158326560	+	Silent	SNP	C	C	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr1:158326560C>T	ENST00000368167.3	+	6	1280	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	CD1E_ENST00000444681.2_Silent_p.V248V|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368163.3_Silent_p.V280V|CD1E_ENST00000368157.1_Silent_p.V91V|CD1E_ENST00000368165.3_Silent_p.V257V|CD1E_ENST00000368154.1_Silent_p.V103V|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368155.3_Silent_p.V190V|CD1E_ENST00000452291.2_Silent_p.V158V|CD1E_ENST00000368160.3_Silent_p.V335V|CD1E_ENST00000368166.3_Silent_p.V146V|CD1E_ENST00000368156.1_Silent_p.V245V	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	347					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCAGCCCTGTCTTTCTCATGG	0.428																																						dbGAP											0													102.0	98.0	99.0					1																	158326560		1882	4112	5994	-	-	-	SO:0001819	synonymous_variant	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.1041C>T	1.37:g.158326560C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.V347	ENST00000368167.3	37	c.1041	CCDS41417.1	1																																																																																			CD1E	-	NULL	ENSG00000158488		0.428	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	396	0.00	0	C	NM_030893		158326560	158326560	+1	no_errors	ENST00000368167	ensembl	human	known	69_37n	silent	467	13.68	74	SNP	0.000	T
COL6A2	1292	genome.wustl.edu	37	21	47539719	47539719	+	Silent	SNP	C	C	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr21:47539719C>T	ENST00000300527.4	+	15	1391	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	COL6A2_ENST00000397763.1_Silent_p.P429P|COL6A2_ENST00000409416.1_Silent_p.P429P|COL6A2_ENST00000310645.5_Silent_p.P429P|COL6A2_ENST00000357838.4_Silent_p.P429P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	429	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGGAGACCCCGGCACCAAGG	0.711																																						dbGAP											0													19.0	21.0	20.0					21																	47539719		2151	4250	6401	-	-	-	SO:0001819	synonymous_variant	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1287C>T	21.37:g.47539719C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.P429	ENST00000300527.4	37	c.1287	CCDS13728.1	21																																																																																			COL6A2	-	pfam_Collagen	ENSG00000142173		0.711	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	40	0.00	0	C			47539719	47539719	+1	no_errors	ENST00000300527	ensembl	human	known	69_37n	silent	17	39.29	11	SNP	0.258	T
CORO7	79585	genome.wustl.edu	37	16	4412030	4412030	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr16:4412030C>T	ENST00000251166.4	-	16	1679	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	CORO7_ENST00000574025.1_Missense_Mutation_p.A427T|CORO7_ENST00000423908.2_Missense_Mutation_p.A344T|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000539968.1_Missense_Mutation_p.A292T|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A512T|CORO7_ENST00000537233.2_Missense_Mutation_p.A494T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	512					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGCGGCACGGCCACACGCAGC	0.647																																						dbGAP											0													81.0	59.0	66.0					16																	4412030		2194	4299	6493	-	-	-	SO:0001583	missense	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1534G>A	16.37:g.4412030C>T	ENSP00000251166:p.Ala512Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFD6|B4DL18|I3L416|Q17RK4	Nonsense_Mutation	SNP	NULL	p.W73*	ENST00000251166.4	37	c.219	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.431667	0.96150	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.69685	-0.42;-0.42;-0.42	5.26	4.3	0.51218	.	0.129095	0.51477	D	0.000081	D	0.83982	0.5372	M	0.90369	3.11	0.58432	D	0.999999	D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;0.635;1.0	D;D;D;D;B;D	0.91635	0.999;0.996;0.992;0.996;0.14;0.998	D	0.87061	0.2153	10	0.87932	D	0	-19.8017	13.2377	0.59979	0.0:0.922:0.0:0.078	.	427;494;292;292;512;493	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	T	512;427;292;344	ENSP00000251166:A512T;ENSP00000446221:A292T;ENSP00000391530:A344T	ENSP00000251166:A512T	A	-	1	0	CORO7	4352031	1.000000	0.71417	0.985000	0.45067	0.199000	0.23934	7.642000	0.83385	1.206000	0.43276	0.561000	0.74099	GCC	CORO7	-	NULL	ENSG00000262246		0.647	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7	Clone_based_vega_gene	protein_coding	OTTHUMT00000251628.2	69	0.00	0	C	NM_024535		4412030	4412030	-1	no_errors	ENST00000576437	ensembl	human	known	69_37n	nonsense	43	39.44	28	SNP	1.000	T
CTC1	80169	genome.wustl.edu	37	17	8151340	8151340	+	Silent	SNP	C	C	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr17:8151340C>A	ENST00000315684.8	-	1	22	c.15G>T	c.(13-15)cgG>cgT	p.R5R	PFAS_ENST00000545834.1_5'Flank|PFAS_ENST00000314666.6_5'Flank|CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	5					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGACCTGGGCCCGGCCAGCCG	0.622																																						dbGAP											0													22.0	29.0	27.0					17																	8151340		1837	4087	5924	-	-	-	SO:0001819	synonymous_variant	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.15G>T	17.37:g.8151340C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	NULL	p.R5	ENST00000315684.8	37	c.15	CCDS42259.1	17																																																																																			CTC1	-	NULL	ENSG00000178971		0.622	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	64	0.00	0	C	NM_025099		8151340	8151340	-1	no_errors	ENST00000315684	ensembl	human	known	69_37n	silent	35	31.37	16	SNP	0.000	A
DENND1A	57706	genome.wustl.edu	37	9	126429352	126429354	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr9:126429352_126429354delAAG	ENST00000373624.2	-	8	659_661	c.458_460delCTT	c.(457-462)tcttat>tat	p.S153del	DENND1A_ENST00000373620.3_In_Frame_Del_p.S153del|DENND1A_ENST00000394215.2_In_Frame_Del_p.S123del|DENND1A_ENST00000373618.1_In_Frame_Del_p.S121del|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_In_Frame_Del_p.S121del	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	153	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						ACAGTAAAATAAGAATGCTAGAA	0.31																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.458_460delCTT	9.37:g.126429352_126429354delAAG	ENSP00000362727:p.Ser153del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	In_Frame_Del	DEL	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S121in_frame_del	ENST00000373624.2	37	c.364_362	CCDS35133.1	9																																																																																			DENND1A	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000119522		0.310	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	188	0.00	0	AAG	NM_024820		126429352	126429354	-1	no_errors	ENST00000394219	ensembl	human	known	69_37n	in_frame_del	244	13.43	38	DEL	1.000:1.000:1.000	-
DNM1	1759	genome.wustl.edu	37	9	130996358	130996358	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr9:130996358G>A	ENST00000372923.3	+	11	1486	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	DNM1_ENST00000486160.1_Missense_Mutation_p.R465Q|DNM1_ENST00000341179.7_Missense_Mutation_p.R465Q|DNM1_ENST00000393594.3_Missense_Mutation_p.R465Q|DNM1_ENST00000475805.1_Missense_Mutation_p.R465Q	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	465					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ACCCACATCCGGGAGCGCGAG	0.697																																					GBM(113;146 1575 2722 28670 29921)	dbGAP											0													21.0	18.0	19.0					9																	130996358		2175	4272	6447	-	-	-	SO:0001583	missense	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1394G>A	9.37:g.130996358G>A	ENSP00000362014:p.Arg465Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.R465Q	ENST00000372923.3	37	c.1394	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.886394	0.97068	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.12	5.12	0.69794	Dynamin central domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	M	0.85041	2.73	0.80722	D	1	D;D;P	0.67145	0.996;0.995;0.549	P;P;B	0.55965	0.788;0.585;0.073	D	0.86651	0.1898	10	0.72032	D	0.01	.	18.5628	0.91107	0.0:0.0:1.0:0.0	.	465;465;465	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	Q	465;465;465;460;465;465;10	ENSP00000419225:R465Q;ENSP00000345680:R465Q;ENSP00000362014:R465Q;ENSP00000377219:R465Q;ENSP00000420045:R465Q	ENSP00000345680:R465Q	R	+	2	0	DNM1	130036179	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.528000	0.98046	2.370000	0.80446	0.455000	0.32223	CGG	DNM1	-	pfam_Dynamin_central	ENSG00000106976		0.697	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	25	0.00	0	G	NM_004408		130996358	130996358	+1	no_errors	ENST00000372923	ensembl	human	known	69_37n	missense	9	59.09	13	SNP	1.000	A
DOPEY1	23033	genome.wustl.edu	37	6	83863703	83863703	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr6:83863703A>T	ENST00000349129.2	+	32	6590	c.6330A>T	c.(6328-6330)gaA>gaT	p.E2110D	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E2101D|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E2040D|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2110					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAAAAAAGAAGCTTTTGACC	0.438																																						dbGAP											0													223.0	221.0	222.0					6																	83863703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6330A>T	6.37:g.83863703A>T	ENSP00000195654:p.Glu2110Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.E2110D	ENST00000349129.2	37	c.6330	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	A	18.90	3.722512	0.68959	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.44083	0.93;1.92	4.94	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	N	0.25144	0.715	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.99	D;D;D	0.72625	0.978;0.97;0.949	T	0.20107	-1.0285	10	0.02654	T	1	.	10.878	0.46923	0.9251:0.0:0.0749:0.0	.	2001;2101;2110	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	D	2110;2040;2040	ENSP00000195654:E2110D;ENSP00000237163:E2040D	ENSP00000237163:E2040D	E	+	3	2	DOPEY1	83920422	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.694000	0.61760	0.875000	0.35847	0.455000	0.32223	GAA	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.438	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	699	0.00	0	A	NM_015018		83863703	83863703	+1	no_errors	ENST00000349129	ensembl	human	known	69_37n	missense	264	48.54	249	SNP	1.000	T
DPY19L2	283417	genome.wustl.edu	37	12	64055199	64055199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr12:64055199C>T	ENST00000324472.4	-	4	696	c.513G>A	c.(511-513)tgG>tgA	p.W171*	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	171					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.W171C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCATAATCATCCACAGTCCTT	0.303																																						dbGAP											1	Substitution - Missense(1)	lung(1)											77.0	79.0	78.0					12																	64055199		2203	4295	6498	-	-	-	SO:0001587	stop_gained	0				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.513G>A	12.37:g.64055199C>T	ENSP00000315988:p.Trp171*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Nonsense_Mutation	SNP	pfam_Dpy-19	p.W171*	ENST00000324472.4	37	c.513	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438052	0.62955	.	.	ENSG00000177990	ENST00000324472;ENST00000538147	.	.	.	2.67	2.67	0.31697	.	0.439797	0.23420	U	0.048380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6108	0.28129	0.0:0.7333:0.2667:0.0	.	.	.	.	X	171;28	.	.	W	-	3	0	DPY19L2	62341466	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	1.850000	0.39328	1.499000	0.48617	0.184000	0.17185	TGG	DPY19L2	-	pfam_Dpy-19	ENSG00000177990		0.303	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2	268	0.00	0	C	NM_173812		64055199	64055199	-1	no_errors	ENST00000324472	ensembl	human	known	69_37n	nonsense	551	16.13	106	SNP	1.000	T
P2RY11	5032	genome.wustl.edu	37	19	10226169	10226169	+	IGR	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr19:10226169G>A	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Silent_p.N311N	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCCACTCGACGTTGAGGATGA	0.632																																						dbGAP											0													76.0	76.0	76.0					19																	10226169		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10226169G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom	p.N311	ENST00000321826.4	37	c.933	CCDS12226.1	19																																																																																			EIF3G	-	smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom	ENSG00000130811		0.632	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3G	HGNC	protein_coding	OTTHUMT00000316664.2	141	0.70	1	G	NM_002566		10226169	10226169	-1	no_errors	ENST00000253108	ensembl	human	known	69_37n	silent	79	18.56	18	SNP	0.983	A
EPHA5	2044	genome.wustl.edu	37	4	66197758	66197758	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr4:66197758G>A	ENST00000273854.3	-	17	3541	c.2941C>T	c.(2941-2943)Cgg>Tgg	p.R981W	EPHA5_ENST00000432638.2_Missense_Mutation_p.R818W|EPHA5_ENST00000354839.4_Missense_Mutation_p.R959W|EPHA5_ENST00000511294.1_Missense_Mutation_p.R982W	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	981	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCTGTATACCGGCCCATCTTG	0.403										TSP Lung(17;0.13)																												dbGAP											0													92.0	87.0	89.0					4																	66197758		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2941C>T	4.37:g.66197758G>A	ENSP00000273854:p.Arg981Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R981W	ENST00000273854.3	37	c.2941	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138092	0.77775	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.47	5.47	0.80525	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.53938	D	0.000057	T	0.72653	0.3487	M	0.89163	3.01	0.58432	D	0.999995	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;D;D;D	0.74348	0.957;0.97;0.928;0.983	T	0.77670	-0.2501	10	0.87932	D	0	.	14.5322	0.67934	0.0:0.0:0.8535:0.1465	.	960;982;959;981	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	W	981;818;959;982	ENSP00000273854:R981W;ENSP00000389208:R818W;ENSP00000346899:R959W;ENSP00000427638:R982W	ENSP00000273854:R981W	R	-	1	2	EPHA5	65880353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.584000	0.74057	2.744000	0.94065	0.561000	0.74099	CGG	EPHA5	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM	ENSG00000145242		0.403	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	196	0.51	1	G	NM_004439		66197758	66197758	-1	no_errors	ENST00000273854	ensembl	human	known	69_37n	missense	168	26.64	61	SNP	1.000	A
ETS1	2113	genome.wustl.edu	37	11	128354830	128354830	+	Silent	SNP	G	G	C			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr11:128354830G>C	ENST00000319397.6	-	5	927	c.618C>G	c.(616-618)ccC>ccG	p.P206P	ETS1_ENST00000345075.4_Silent_p.P206P|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000531611.1_Silent_p.P206P|ETS1_ENST00000392668.4_Silent_p.P250P|ETS1_ENST00000526145.2_Silent_p.P206P	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	206	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAATGACCGAGGGGTAGTCAT	0.522																																						dbGAP											0													148.0	132.0	137.0					11																	128354830		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.618C>G	11.37:g.128354830G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.P250	ENST00000319397.6	37	c.750	CCDS8475.1	11																																																																																			ETS1	-	pirsf_Transforming_factor_C-ets	ENSG00000134954		0.522	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS1	HGNC	protein_coding	OTTHUMT00000386269.2	265	0.00	0	G	NM_005238		128354830	128354830	-1	no_errors	ENST00000392668	ensembl	human	known	69_37n	silent	202	23.97	64	SNP	0.796	C
FBXO25	26260	genome.wustl.edu	37	8	413124	413124	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr8:413124C>T	ENST00000276326.5	+	9	1080	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	FBXO25_ENST00000352684.2_Missense_Mutation_p.R254W|FBXO25_ENST00000350302.3_Missense_Mutation_p.R321W|FBXO25_ENST00000382824.1_Missense_Mutation_p.R254W|FBXO25_ENST00000519376.1_3'UTR	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	321					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		GCATTTCTGTCGGCACTGCAG	0.383																																						dbGAP											0													155.0	144.0	148.0					8																	413124		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.961C>T	8.37:g.413124C>T	ENSP00000276326:p.Arg321Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.R321W	ENST00000276326.5	37	c.961	CCDS5953.1	8	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316205	0.60524	.	.	ENSG00000147364	ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.27	3.1	0.35709	F-box domain, Skp2-like (1);	0.162995	0.53938	D	0.000052	T	0.45074	0.1324	M	0.68952	2.095	0.53005	D	0.999968	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.67103	0.862;0.949;0.949	T	0.47394	-0.9121	10	0.72032	D	0.01	-10.1026	11.8504	0.52407	0.3629:0.6371:0.0:0.0	.	254;321;321	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	W	321;254;321;293;254	ENSP00000342077:R321W;ENSP00000341345:R254W;ENSP00000276326:R321W;ENSP00000372274:R254W	ENSP00000276326:R321W	R	+	1	2	FBXO25	403124	0.999000	0.42202	0.900000	0.35374	0.801000	0.45260	2.936000	0.48971	1.287000	0.44583	0.467000	0.42956	CGG	FBXO25	-	superfamily_F-box_dom_cyclin-like	ENSG00000147364		0.383	FBXO25-001	KNOWN	basic|CCDS	protein_coding	FBXO25	HGNC	protein_coding	OTTHUMT00000206710.2	415	0.00	0	C	NM_012173		413124	413124	+1	no_errors	ENST00000276326	ensembl	human	known	69_37n	missense	152	29.95	65	SNP	0.993	T
FHOD3	80206	genome.wustl.edu	37	18	34238119	34238119	+	Silent	SNP	C	C	T	rs201369615		TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr18:34238119C>T	ENST00000359247.4	+	11	1278	c.1278C>T	c.(1276-1278)tcC>tcT	p.S426S	FHOD3_ENST00000257209.4_Silent_p.S426S|FHOD3_ENST00000445677.1_Intron|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Silent_p.S601S	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	426					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACATCATCCGTCTCACCCC	0.498																																						dbGAP											0													121.0	103.0	109.0					18																	34238119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1278C>T	18.37:g.34238119C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S426	ENST00000359247.4	37	c.1278		18																																																																																			FHOD3	-	NULL	ENSG00000134775		0.498	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	482	0.00	0	C	XM_371114		34238119	34238119	+1	no_errors	ENST00000257209	ensembl	human	known	69_37n	silent	658	12.88	98	SNP	0.000	T
GPC3	2719	genome.wustl.edu	37	X	132887698	132887698	+	Silent	SNP	G	G	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chrX:132887698G>T	ENST00000370818.3	-	3	1288	c.843C>A	c.(841-843)gtC>gtA	p.V281V	GPC3_ENST00000394299.2_Silent_p.V281V|GPC3_ENST00000543339.1_Silent_p.V227V	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	281					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGCCTTGCATGACCACATTGC	0.478			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													dbGAP	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0													565.0	359.0	429.0					X																	132887698		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.843C>A	X.37:g.132887698G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JLE3|G3V1R0|Q2L880|Q2L882	Nonsense_Mutation	SNP	pfam_Glypican	p.S11*	ENST00000370818.3	37	c.32	CCDS14638.1	X	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289842	0.10567	.	.	ENSG00000147257	ENST00000406757	.	.	.	5.96	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.7179	0.02905	0.1633:0.207:0.4161:0.2136	.	.	.	.	X	11	.	.	S	-	2	0	GPC3	132715364	0.968000	0.33430	1.000000	0.80357	0.993000	0.82548	0.131000	0.15870	0.665000	0.31066	0.594000	0.82650	TCA	GPC3	-	pfam_Glypican	ENSG00000147257		0.478	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC3	HGNC	protein_coding	OTTHUMT00000058356.1	950	0.00	0	G	NM_004484		132887698	132887698	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000406757	ensembl	human	known	69_37n	nonsense	753	28.73	304	SNP	1.000	T
MROH2B	133558	genome.wustl.edu	37	5	41033173	41033173	+	Silent	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr5:41033173G>A	ENST00000399564.4	-	23	2781	c.2331C>T	c.(2329-2331)tcC>tcT	p.S777S	MROH2B_ENST00000506092.2_Silent_p.S332S	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	777																	TCTCCTTGTAGGAAAACTGGA	0.443																																						dbGAP											0													127.0	117.0	120.0					5																	41033173		2017	4178	6195	-	-	-	SO:0001819	synonymous_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2331C>T	5.37:g.41033173G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	superfamily_ARM-type_fold	p.S777	ENST00000399564.4	37	c.2331	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	444	0.00	0	G	NM_173489		41033173	41033173	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	silent	352	16.19	68	SNP	1.000	A
HGFAC	3083	genome.wustl.edu	37	4	3445881	3445881	+	Silent	SNP	C	C	T	rs373167210		TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr4:3445881C>T	ENST00000382774.3	+	5	706	c.591C>T	c.(589-591)tgC>tgT	p.C197C	HGFAC_ENST00000511533.1_Silent_p.C197C	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	197	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAAGGACTGCGGCACAGGTG	0.697																																						dbGAP											0													12.0	13.0	13.0					4																	3445881		2187	4289	6476	-	-	-	SO:0001819	synonymous_variant	0			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.591C>T	4.37:g.3445881C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14726|Q2M1W7|Q53X47	Silent	SNP	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.C197	ENST00000382774.3	37	c.591	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA,smart_EGF-like,pfscan_EG-like_dom	ENSG00000109758		0.697	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	35	0.00	0	C			3445881	3445881	+1	no_errors	ENST00000382774	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	0.007	T
KIAA0922	23240	genome.wustl.edu	37	4	154479493	154479493	+	Silent	SNP	C	C	G			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr4:154479493C>G	ENST00000409663.3	+	7	685	c.633C>G	c.(631-633)gtC>gtG	p.V211V	KIAA0922_ENST00000440693.1_Silent_p.V211V|KIAA0922_ENST00000409959.3_Silent_p.V211V	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	211						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTCCAAAGGTCCAGAGCATTC	0.408																																						dbGAP											0													91.0	92.0	92.0					4																	154479493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.633C>G	4.37:g.154479493C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	pfam_DUF3651_TMEM131	p.V211	ENST00000409663.3	37	c.633	CCDS3783.2	4																																																																																			KIAA0922	-	NULL	ENSG00000121210		0.408	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	251	0.00	0	C	NM_015196		154479493	154479493	+1	no_errors	ENST00000409959	ensembl	human	known	69_37n	silent	208	15.45	38	SNP	0.983	G
KRT33A	3883	genome.wustl.edu	37	17	39503181	39503181	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr17:39503181T>G	ENST00000007735.3	-	5	835	c.791A>C	c.(790-792)cAg>cCg	p.Q264P		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	264	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGACTGCAGCTGCTCCGAGCT	0.617																																						dbGAP											0													72.0	67.0	69.0					17																	39503181		2203	4297	6500	-	-	-	SO:0001583	missense	0			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.791A>C	17.37:g.39503181T>G	ENSP00000007735:p.Gln264Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.Q264P	ENST00000007735.3	37	c.791	CCDS11388.1	17	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020635	0.54576	.	.	ENSG00000006059	ENST00000007735	D	0.89617	-2.54	4.27	4.27	0.50696	Filament (1);	0.000000	0.64402	D	0.000013	D	0.95069	0.8403	M	0.91920	3.255	0.31265	N	0.692383	D	0.71674	0.998	D	0.76575	0.988	D	0.94273	0.7512	10	0.72032	D	0.01	.	13.0092	0.58722	0.0:0.0:0.0:1.0	.	264	O76009	KT33A_HUMAN	P	264	ENSP00000007735:Q264P	ENSP00000007735:Q264P	Q	-	2	0	KRT33A	36756707	0.965000	0.33210	1.000000	0.80357	0.934000	0.57294	3.606000	0.54095	1.908000	0.55244	0.460000	0.39030	CAG	KRT33A	-	pfam_F,superfamily_Prefoldin	ENSG00000006059		0.617	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33A	HGNC	protein_coding	OTTHUMT00000257295.1	280	0.36	1	T	NM_004138		39503181	39503181	-1	no_errors	ENST00000007735	ensembl	human	known	69_37n	missense	187	35.52	103	SNP	1.000	G
KIF2B	84643	genome.wustl.edu	37	17	51900989	51900989	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr17:51900989G>C	ENST00000268919.4	+	1	751	c.595G>C	c.(595-597)Gac>Cac	p.D199H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	199					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGGCACCTGGACAGCAGCAA	0.557																																						dbGAP											0													76.0	64.0	68.0					17																	51900989		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.595G>C	17.37:g.51900989G>C	ENSP00000268919:p.Asp199His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D199H	ENST00000268919.4	37	c.595	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880496	0.33255	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.17054	2.3	5.37	2.27	0.28462	.	0.491317	0.18337	N	0.144316	T	0.13798	0.0334	L	0.47190	1.495	0.29444	N	0.858949	B	0.33549	0.417	B	0.31614	0.133	T	0.10291	-1.0636	10	0.66056	D	0.02	.	6.615	0.22773	0.2079:0.2387:0.5534:0.0	.	199	Q8N4N8	KIF2B_HUMAN	H	199;122	ENSP00000268919:D199H	ENSP00000268919:D199H	D	+	1	0	KIF2B	49255988	0.999000	0.42202	0.315000	0.25238	0.493000	0.33554	1.916000	0.39986	0.327000	0.23409	-0.137000	0.14449	GAC	KIF2B	-	NULL	ENSG00000141200		0.557	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	73	0.00	0	G	NM_032559		51900989	51900989	+1	no_errors	ENST00000268919	ensembl	human	known	69_37n	missense	72	10.00	8	SNP	0.705	C
MAGI1	9223	genome.wustl.edu	37	3	65361584	65361584	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr3:65361584C>T	ENST00000402939.2	-	18	3031	c.3032G>A	c.(3031-3033)cGg>cAg	p.R1011Q	MAGI1_ENST00000330909.8_Missense_Mutation_p.R1039Q|MAGI1_ENST00000483466.1_Missense_Mutation_p.R1040Q|MAGI1_ENST00000497477.2_Intron	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1040	Interaction with FCHSD2.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCAATAATCCGACCTATTTT	0.433																																						dbGAP											0													116.0	103.0	107.0					3																	65361584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3032G>A	3.37:g.65361584C>T	ENSP00000385450:p.Arg1011Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1011Q	ENST00000402939.2	37	c.3032	CCDS33780.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.130964|5.130964	0.94473|0.94473	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000472257	.|T;T;T;T;T	.|0.28255	.|1.62;1.62;1.62;1.62;1.62	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38054|0.38054	0.1026|0.1026	N|N	0.05050|0.05050	-0.12|-0.12	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.89917	.|1.0;1.0;0.893	.|D;D;B	.|0.87578	.|0.997;0.998;0.411	T|T	0.46048|0.46048	-0.9219|-0.9219	5|10	.|0.40728	.|T	.|0.16	-24.4167|-24.4167	20.5407|20.5407	0.99260|0.99260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1040;1011;1039	.|Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.	R|Q	920|1011;1039;935;915;1040;798	.|ENSP00000385450:R1011Q;ENSP00000331157:R1039Q;ENSP00000418177:R915Q;ENSP00000420323:R1040Q;ENSP00000420796:R798Q	.|ENSP00000331157:R1039Q	G|R	-|-	1|2	0|0	MAGI1|MAGI1	65336624|65336624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GGA|CGG	MAGI1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000151276		0.433	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349126.1	325	0.00	0	C	NM_004742		65361584	65361584	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	196	22.53	57	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9000463	9000463	+	Silent	SNP	C	C	T	rs542521864		TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr19:9000463C>T	ENST00000397910.4	-	54	40724	c.40521G>A	c.(40519-40521)acG>acA	p.T13507T	MUC16_ENST00000380951.5_Silent_p.T148T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13509	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T13507T(1)|p.T192T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACTCTCTCCGTGGTGTTAA	0.507													N|||	1	0.000199681	0.0	0.0	5008	,	,		19192	0.0		0.0	False		,,,				2504	0.001					dbGAP											2	Substitution - coding silent(2)	lung(2)											174.0	149.0	157.0					19																	9000463		1998	4159	6157	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40521G>A	19.37:g.9000463C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T13507	ENST00000397910.4	37	c.40521	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	1.337	-0.595162	0.03771	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.9	-5.79	0.02354	.	.	.	.	.	T	0.17789	0.0427	.	.	.	.	.	.	.	.	.	.	.	.	T	0.03922	-1.0992	3	.	.	.	-5.5916	2.2386	0.04014	0.2321:0.3951:0.2303:0.1424	.	.	.	.	Q	347	.	.	R	-	2	0	MUC16	8861463	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.288000	0.00134	-4.161000	0.00068	-2.125000	0.00346	CGG	MUC16	-	pfam_SEA,smart_SEA,pfscan_SEA	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	615	0.32	2	C	NM_024690		9000463	9000463	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	439	22.16	125	SNP	0.000	T
NBPF12	149013	genome.wustl.edu	37	1	146400130	146400130	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr1:146400130C>A	ENST00000442909.2	+	9	1442	c.606C>A	c.(604-606)gaC>gaA	p.D202E	NBPF12_ENST00000446760.2_Missense_Mutation_p.D202E|NBPF12_ENST00000309471.8_Missense_Mutation_p.D127E			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	36	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						TCCCTGAGGACTCACTGGAGG	0.502																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.606C>A	1.37:g.146400130C>A	ENSP00000391116:p.Asp202Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95877	Missense_Mutation	SNP	pfam_NBPF_dom	p.D202E	ENST00000442909.2	37	c.606		1	.	.	.	.	.	.	.	.	.	.	N	9.414	1.081196	0.20309	.	.	ENSG00000186275	ENST00000446760;ENST00000442909;ENST00000309471	T;T;T	0.15952	2.38;2.38;2.38	1.08	0.0934	0.14477	.	.	.	.	.	T	0.11750	0.0286	M	0.74647	2.275	0.09310	N	1	P	0.41597	0.756	P	0.49752	0.621	T	0.17806	-1.0357	9	0.40728	T	0.16	.	3.5247	0.07755	0.0:0.7254:0.0:0.2746	.	202	Q86T75-2	.	E	202;202;127	ENSP00000396525:D202E;ENSP00000391116:D202E;ENSP00000311131:D127E	ENSP00000311131:D127E	D	+	3	2	NBPF12	144764081	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.189000	0.09629	0.098000	0.17522	0.000000	0.15137	GAC	NBPF12	-	pfam_NBPF_dom	ENSG00000186275		0.502	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	NBPF12	HGNC	protein_coding	OTTHUMT00000102086.3	61	0.00	0	C	XM_003119146		146400130	146400130	+1	no_errors	ENST00000446760	ensembl	human	known	69_37n	missense	31	40.38	21	SNP	0.000	A
NELL2	4753	genome.wustl.edu	37	12	45269656	45269656	+	5'UTR	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr12:45269656G>A	ENST00000429094.2	-	0	501				NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000452445.2_5'UTR|NELL2_ENST00000437801.2_Silent_p.R49R|NELL2_ENST00000333837.4_Silent_p.R22R|NELL2_ENST00000548826.1_5'UTR|NELL2_ENST00000395487.2_5'Flank|NELL2_ENST00000551601.1_5'UTR	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACTCCATGGTGCGGATCAGCT	0.498																																						dbGAP											0													85.0	91.0	89.0					12																	45269656		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.-4C>T	12.37:g.45269656G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.R49	ENST00000429094.2	37	c.147	CCDS8746.1	12																																																																																			NELL2	-	NULL	ENSG00000184613		0.498	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	97	0.00	0	G	NM_006159		45269656	45269656	-1	no_errors	ENST00000437801	ensembl	human	known	69_37n	silent	64	20.00	16	SNP	0.483	A
NOP14	8602	genome.wustl.edu	37	4	2955267	2955267	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr4:2955267C>G	ENST00000314262.6	-	5	766	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.E240Q|NOP14_ENST00000502735.1_Missense_Mutation_p.E240Q|NOP14_ENST00000398071.4_Missense_Mutation_p.E240Q	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	240					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCTCTGTTCTCTGACTTGGGA	0.488																																						dbGAP											0													235.0	219.0	224.0					4																	2955267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.718G>C	4.37:g.2955267C>G	ENSP00000315674:p.Glu240Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.E240Q	ENST00000314262.6	37	c.718	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172062	0.38315	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.94	4.09	0.47781	.	0.227351	0.43919	N	0.000504	T	0.37210	0.0995	M	0.75777	2.31	0.23758	N	0.996929	B;B	0.20459	0.006;0.045	B;B	0.19946	0.018;0.027	T	0.39099	-0.9630	10	0.87932	D	0	-16.4333	14.8629	0.70394	0.0:0.8553:0.1447:0.0	.	240;240	E9PFK5;P78316	.;NOP14_HUMAN	Q	240;240;240;240;139	ENSP00000405068:E240Q;ENSP00000315674:E240Q;ENSP00000427415:E240Q;ENSP00000381146:E240Q	ENSP00000315674:E240Q	E	-	1	0	NOP14	2925065	0.959000	0.32827	0.001000	0.08648	0.021000	0.10359	4.295000	0.59049	1.058000	0.40530	0.491000	0.48974	GAG	NOP14	-	pfam_Nop14	ENSG00000087269		0.488	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	540	0.00	0	C	NM_003703		2955267	2955267	-1	no_errors	ENST00000416614	ensembl	human	known	69_37n	missense	431	16.96	88	SNP	0.227	G
P2RY13	53829	genome.wustl.edu	37	3	151046371	151046371	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr3:151046371A>G	ENST00000325602.5	-	2	492	c.473T>C	c.(472-474)gTt>gCt	p.V158A	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	158					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TTTTGCAAAAACAGGTTTTTT	0.413																																						dbGAP											0													39.0	41.0	40.0					3																	151046371		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.473T>C	3.37:g.151046371A>G	ENSP00000320376:p.Val158Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y13_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	p.V158A	ENST00000325602.5	37	c.473	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	A	0.095	-1.161233	0.01673	.	.	ENSG00000181631	ENST00000325602	T	0.36699	1.24	5.45	-2.15	0.07102	GPCR, rhodopsin-like superfamily (1);	1.287600	0.05096	N	0.486197	T	0.13586	0.0329	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.26950	-1.0088	10	0.06236	T	0.91	0.6288	6.8988	0.24271	0.5165:0.206:0.2776:0.0	.	158	Q9BPV8	P2Y13_HUMAN	A	158	ENSP00000320376:V158A	ENSP00000320376:V158A	V	-	2	0	P2RY13	152529061	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-1.876000	0.01633	-0.015000	0.14150	0.456000	0.33151	GTT	P2RY13	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_UDPG_rcpt	ENSG00000181631		0.413	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	30	0.00	0	A	NM_023914		151046371	151046371	-1	no_errors	ENST00000325602	ensembl	human	known	69_37n	missense	68	13.92	11	SNP	0.000	G
PCDH19	57526	genome.wustl.edu	37	X	99661925	99661925	+	Silent	SNP	G	G	A	rs267606933		TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chrX:99661925G>A	ENST00000373034.4	-	1	3346	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	PCDH19_ENST00000420881.2_Silent_p.N557N|PCDH19_ENST00000255531.7_Silent_p.N557N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		N -> K (in EIEE9). {ECO:0000269|PubMed:18469813, ECO:0000269|PubMed:19752159}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGTGTTGTCGTTGACGTCGA	0.582																																						dbGAP											0			GRCh37	CM081730	PCDH19	M							125.0	122.0	123.0					X																	99661925		2158	4240	6398	-	-	-	SO:0001819	synonymous_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1671C>T	X.37:g.99661925G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N557	ENST00000373034.4	37	c.1671	CCDS55462.1	X																																																																																			PCDH19	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000165194		0.582	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	307	0.00	0	G	NM_020766		99661925	99661925	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	silent	249	20.70	65	SNP	0.999	A
RAB11FIP1	80223	genome.wustl.edu	37	8	37720512	37720512	+	Silent	SNP	C	C	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr8:37720512C>T	ENST00000330843.4	-	6	3765	c.3753G>A	c.(3751-3753)ctG>ctA	p.L1251L	RAB11FIP1_ENST00000522727.1_Silent_p.L469L|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Silent_p.L617L	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1251	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for interaction with RAB4A and RAB11A, subcellular location and endosomal recycling.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGTAGTCTTCCAGCTCGCGGA	0.498																																						dbGAP											0													196.0	184.0	188.0					8																	37720512		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3753G>A	8.37:g.37720512C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L1251	ENST00000330843.4	37	c.3753	CCDS34882.1	8																																																																																			RAB11FIP1	-	pfam_Rab-bd_FIP-RBD	ENSG00000156675		0.498	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	437	0.00	0	C	NM_025151		37720512	37720512	-1	no_errors	ENST00000330843	ensembl	human	known	69_37n	silent	537	26.06	190	SNP	1.000	T
SEMA3D	223117	genome.wustl.edu	37	7	84649620	84649620	+	Nonsense_Mutation	SNP	T	T	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr7:84649620T>A	ENST00000284136.6	-	12	1475	c.1432A>T	c.(1432-1434)Aaa>Taa	p.K478*	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	478	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGACAACTTTGAGGACAGTT	0.403																																					Ovarian(63;442 1191 17318 29975 31528)	dbGAP											0													98.0	85.0	89.0					7																	84649620		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1432A>T	7.37:g.84649620T>A	ENSP00000284136:p.Lys478*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK46|Q6UW77|Q8NCQ1	Nonsense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.K478*	ENST00000284136.6	37	c.1432	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	T	38	6.936100	0.97948	.	.	ENSG00000153993	ENST00000284136	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7944	0.78398	0.0:0.0:0.0:1.0	.	.	.	.	X	478	.	ENSP00000284136:K478X	K	-	1	0	SEMA3D	84487556	1.000000	0.71417	0.907000	0.35723	0.785000	0.44390	7.779000	0.85648	2.168000	0.68352	0.533000	0.62120	AAA	SEMA3D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000153993		0.403	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	248	0.00	0	T	NM_152754		84649620	84649620	-1	no_errors	ENST00000284136	ensembl	human	known	69_37n	nonsense	231	12.12	32	SNP	1.000	A
MIEF1	54471	genome.wustl.edu	37	22	39907907	39907907	+	Silent	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr22:39907907G>A	ENST00000325301.2	+	4	622	c.198G>A	c.(196-198)tcG>tcA	p.S66S	MIEF1_ENST00000404569.1_Silent_p.S66S|MIEF1_ENST00000402881.1_Silent_p.S66S	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	66	Dimerization.				mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										TGAGCCATTCGGGGAAAAGGA	0.592																																						dbGAP											0													95.0	108.0	103.0					22																	39907907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.198G>A	22.37:g.39907907G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L890|Q9BUI3	Silent	SNP	NULL	p.S66	ENST00000325301.2	37	c.198	CCDS13995.1	22																																																																																			SMCR7L	-	NULL	ENSG00000100335		0.592	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	88	0.00	0	G	NM_019008		39907907	39907907	+1	no_errors	ENST00000325301	ensembl	human	known	69_37n	silent	89	16.82	18	SNP	0.500	A
SPP1	6696	genome.wustl.edu	37	4	88901223	88901223	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr4:88901223T>C	ENST00000395080.3	+	4	246	c.119T>C	c.(118-120)gTg>gCg	p.V40A	SPP1_ENST00000360804.4_Intron|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000237623.7_Missense_Mutation_p.V40A	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	40					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CCAGATGCTGTGGCCACATGG	0.358																																						dbGAP											0													99.0	100.0	100.0					4																	88901223		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.119T>C	4.37:g.88901223T>C	ENSP00000378517:p.Val40Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin	p.V40A	ENST00000395080.3	37	c.119	CCDS43250.1	4	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511508	0.64522	.	.	ENSG00000118785	ENST00000359072;ENST00000237623;ENST00000395080	T;T	0.41065	1.01;1.01	5.62	1.8	0.24995	.	0.715783	0.12455	N	0.467433	T	0.34454	0.0898	L	0.55990	1.75	0.09310	N	1	B;B;B	0.17268	0.021;0.021;0.021	B;B;B	0.17722	0.019;0.019;0.019	T	0.37934	-0.9684	10	0.87932	D	0	-0.8935	3.7275	0.08480	0.1587:0.173:0.0:0.6684	.	53;40;40	B7Z351;B2RDA1;P10451	.;.;OSTP_HUMAN	A	40	ENSP00000237623:V40A;ENSP00000378517:V40A	ENSP00000237623:V40A	V	+	2	0	SPP1	89120247	0.944000	0.32072	0.019000	0.16419	0.985000	0.73830	2.004000	0.40854	0.082000	0.17018	0.523000	0.50628	GTG	SPP1	-	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin	ENSG00000118785		0.358	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	272	0.00	0	T			88901223	88901223	+1	no_errors	ENST00000395080	ensembl	human	known	69_37n	missense	185	36.95	109	SNP	0.004	C
SSH1	54434	genome.wustl.edu	37	12	109185905	109185905	+	Intron	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr12:109185905G>A	ENST00000326495.5	-	14	1987				SSH1_ENST00000360239.3_Intron|SSH1_ENST00000326470.5_Nonsense_Mutation_p.Q695*|SSH1_ENST00000551165.1_Nonsense_Mutation_p.Q684*	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1						actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGGTCCCTGGAGATGGGAG	0.507																																						dbGAP											0													19.0	20.0	20.0					12																	109185905		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1893+156C>T	12.37:g.109185905G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Q695*	ENST00000326495.5	37	c.2083	CCDS9121.1	12	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130819	0.56828	.	.	ENSG00000084112	ENST00000551165;ENST00000326470	.	.	.	1.57	-1.77	0.07982	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	0.5611	0.00679	0.1806:0.2413:0.3335:0.2446	.	.	.	.	X	684;695	.	ENSP00000326107:Q695X	Q	-	1	0	SSH1	107710034	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.208000	0.09371	-0.589000	0.05874	0.557000	0.71058	CAG	SSH1	-	NULL	ENSG00000084112		0.507	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	55	0.00	0	G	NM_018984		109185905	109185905	-1	no_errors	ENST00000326470	ensembl	human	known	69_37n	nonsense	50	41.18	35	SNP	0.000	A
TNC	3371	genome.wustl.edu	37	9	117840365	117840365	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr9:117840365C>A	ENST00000350763.4	-	7	2942	c.2531G>T	c.(2530-2532)gGa>gTa	p.G844V	TNC_ENST00000542877.1_Missense_Mutation_p.G844V|TNC_ENST00000535648.1_Missense_Mutation_p.G844V|TNC_ENST00000340094.3_Missense_Mutation_p.G844V|TNC_ENST00000345230.3_Missense_Mutation_p.G844V|TNC_ENST00000537320.1_Missense_Mutation_p.G844V|TNC_ENST00000423613.2_Missense_Mutation_p.G844V|TNC_ENST00000346706.3_Missense_Mutation_p.G844V|TNC_ENST00000341037.4_Missense_Mutation_p.G844V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	844	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTACGGTCTCCTGGCACGTC	0.552																																						dbGAP											0													239.0	171.0	194.0					9																	117840365		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2531G>T	9.37:g.117840365C>A	ENSP00000265131:p.Gly844Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.G844V	ENST00000350763.4	37	c.2531	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551566	0.65311	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.177173	0.51477	D	0.000092	T	0.72622	0.3483	M	0.83223	2.63	0.80722	D	1	D;P	0.56035	0.974;0.786	D;P	0.65233	0.933;0.688	T	0.74931	-0.3496	10	0.54805	T	0.06	.	14.5397	0.67984	0.1465:0.8535:0.0:0.0	.	844;844	E9PC84;P24821	.;TENA_HUMAN	V	844	ENSP00000344400:G844V;ENSP00000438152:G844V;ENSP00000344555:G844V;ENSP00000345861:G844V;ENSP00000265131:G844V;ENSP00000339553:G844V;ENSP00000411406:G844V;ENSP00000443478:G844V;ENSP00000442242:G844V	ENSP00000344400:G844V	G	-	2	0	TNC	116880186	0.995000	0.38212	0.156000	0.22583	0.855000	0.48748	4.272000	0.58908	2.734000	0.93682	0.655000	0.94253	GGA	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.552	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	284	0.00	0	C	NM_002160		117840365	117840365	-1	no_errors	ENST00000350763	ensembl	human	known	69_37n	missense	209	34.38	110	SNP	0.718	A
TOX	9760	genome.wustl.edu	37	8	59852038	59852038	+	Silent	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr8:59852038G>A	ENST00000361421.1	-	3	454	c.234C>T	c.(232-234)ctC>ctT	p.L78L		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	78						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGTGGTCTGGGAGGGAAGGAG	0.463																																					Pancreas(161;610 1969 17913 21374 22725)	dbGAP											0													128.0	113.0	118.0					8																	59852038		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.234C>T	8.37:g.59852038G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AV5	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L78	ENST00000361421.1	37	c.234	CCDS34897.1	8																																																																																			TOX	-	NULL	ENSG00000198846		0.463	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX	HGNC	protein_coding	OTTHUMT00000378307.1	272	0.00	0	G	NM_014729		59852038	59852038	-1	no_errors	ENST00000361421	ensembl	human	known	69_37n	silent	657	12.05	90	SNP	0.995	A
TP53	7157	genome.wustl.edu	37	17	7578509	7578509	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr17:7578509A>G	ENST00000269305.4	-	5	610	c.421T>C	c.(421-423)Tgc>Cgc	p.C141R	TP53_ENST00000413465.2_Missense_Mutation_p.C141R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C141R|TP53_ENST00000359597.4_Missense_Mutation_p.C141R|TP53_ENST00000420246.2_Missense_Mutation_p.C141R|TP53_ENST00000455263.2_Missense_Mutation_p.C141R	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	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and 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.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(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)	TGCACAGGGCAGGTCTTGGCC	0.567		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"""	47	Substitution - Missense(19)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Complex - frameshift(1)|Complex - deletion inframe(1)	ovary(11)|large_intestine(7)|breast(7)|central_nervous_system(5)|bone(4)|upper_aerodigestive_tract(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|prostate(2)|biliary_tract(1)|lung(1)|oesophagus(1)											56.0	55.0	56.0					17																	7578509		2203	4300	6503	-	-	-	SO:0001583	missense	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.421T>C	17.37:g.7578509A>G	ENSP00000269305:p.Cys141Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	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	Missense_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.C141R	ENST00000269305.4	37	c.421	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	13.32	2.203306	0.38905	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99820	-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93;-6.93	5.48	4.41	0.53225	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99806	0.9916	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.994;1.0;0.999;1.0;1.0	D	0.97577	1.0108	10	0.87932	D	0	-26.1094	9.8103	0.40820	0.918:0.0:0.082:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141R;ENSP00000352610:C141R;ENSP00000269305:C141R;ENSP00000398846:C141R;ENSP00000391127:C141R;ENSP00000391478:C141R;ENSP00000425104:C9R;ENSP00000423862:C48R;ENSP00000424104:C141R	ENSP00000269305:C141R	C	-	1	0	TP53	7519234	1.000000	0.71417	0.996000	0.52242	0.026000	0.11368	5.164000	0.64954	1.020000	0.39573	-0.256000	0.11100	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	146	0.68	1	A	NM_000546		7578509	7578509	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	40	54.02	47	SNP	1.000	G
TRHDE	29953	genome.wustl.edu	37	12	72667271	72667271	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr12:72667271A>T	ENST00000261180.4	+	1	809	c.713A>T	c.(712-714)aAc>aTc	p.N238I	TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	238					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTATCTACAACGCGCTCATC	0.567																																						dbGAP											0													56.0	57.0	57.0					12																	72667271		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.713A>T	12.37:g.72667271A>T	ENSP00000261180:p.Asn238Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.N238I	ENST00000261180.4	37	c.713	CCDS9004.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.60|10.60	1.395808|1.395808	0.25205|0.25205	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.02682|.	4.2|.	5.1|5.1	2.77|2.77	0.32553|0.32553	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.355694|.	0.29059|.	N|.	0.013276|.	T|T	0.25195|0.25195	0.0612|0.0612	N|N	0.16201|0.16201	0.385|0.385	0.30022|0.30022	N|N	0.814282|0.814282	B|.	0.27117|.	0.168|.	B|.	0.30855|.	0.121|.	T|T	0.23368|0.23368	-1.0190|-1.0190	10|5	0.36615|.	T|.	0.2|.	.|.	6.8726|6.8726	0.24129|0.24129	0.7366:0.0:0.2634:0.0|0.7366:0.0:0.2634:0.0	.|.	238|.	Q9UKU6|.	TRHDE_HUMAN|.	I|H	238|3	ENSP00000261180:N238I|.	ENSP00000261180:N238I|.	N|Q	+|+	2|3	0|2	TRHDE|TRHDE	70953538|70953538	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.639000|0.639000	0.38242|0.38242	2.539000|2.539000	0.45718|0.45718	0.788000|0.788000	0.33755|0.33755	0.421000|0.421000	0.28195|0.28195	AAC|CAA	TRHDE	-	pfam_Peptidase_M1_N	ENSG00000072657		0.567	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	29	0.00	0	A	NM_013381		72667271	72667271	+1	no_errors	ENST00000261180	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	T
TRMT2A	27037	genome.wustl.edu	37	22	20103765	20103765	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr22:20103765G>A	ENST00000252136.7	-	2	783	c.395C>T	c.(394-396)gCc>gTc	p.A132V	TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.A132V|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.A132V|RANBP1_ENST00000430524.1_5'UTR|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000404751.3_Missense_Mutation_p.A132V	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	132	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TTTCCAGAGGGCACCATGCAA	0.642																																						dbGAP											0													48.0	48.0	48.0					22																	20103765		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.395C>T	22.37:g.20103765G>A	ENSP00000252136:p.Ala132Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom	p.A132V	ENST00000252136.7	37	c.395	CCDS13774.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.221697|4.221697	0.79464|0.79464	.|.	.|.	ENSG00000099901|ENSG00000099899	ENST00000432879|ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	.|T;T;T;T	.|0.07216	.|3.21;3.21;3.21;3.21	5.68|5.68	3.55|3.55	0.40652|0.40652	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.207335|0.207335	0.51477|0.51477	D|N	0.000090|0.000090	T|T	0.05502|0.05502	0.0145|0.0145	L|L	0.28192|0.28192	0.835|0.835	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.18310	.|0.027;0.002;0.0	.|B;B;B	.|0.22152	.|0.038;0.008;0.004	T|T	0.38628|0.38628	-0.9652|-0.9652	7|10	0.46703|0.17369	T|T	0.11|0.5	-22.3355|-22.3355	6.3234|6.3234	0.21231|0.21231	0.214:0.136:0.6501:0.0|0.214:0.136:0.6501:0.0	.|.	.|132;132;132	.|B4E213;F2Z2W7;Q8IZ69	.|.;.;TRM2A_HUMAN	T|V	20|132	.|ENSP00000252136:A132V;ENSP00000385807:A132V;ENSP00000384968:A132V;ENSP00000395738:A132V	ENSP00000404724:A20T|ENSP00000252136:A132V	A|A	+|-	1|2	0|0	RANBP1|TRMT2A	18483765|18483765	0.862000|0.862000	0.29867|0.29867	0.679000|0.679000	0.29978|0.29978	0.935000|0.935000	0.57460|0.57460	2.699000|2.699000	0.47077|0.47077	0.736000|0.736000	0.32559|0.32559	0.491000|0.491000	0.48974|0.48974	GCA|GCC	TRMT2A	-	pfscan_RRM_dom	ENSG00000099899		0.642	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT2A	HGNC	protein_coding	OTTHUMT00000318168.3	41	0.00	0	G	NM_022727		20103765	20103765	-1	no_errors	ENST00000252136	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	0.947	A
TRPC5	7224	genome.wustl.edu	37	X	111155832	111155832	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chrX:111155832C>T	ENST00000262839.2	-	3	1505	c.587G>A	c.(586-588)cGa>cAa	p.R196Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	196					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATGTTCAGTCGGGAGCGAGA	0.567																																						dbGAP											0													110.0	100.0	103.0					X																	111155832		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.587G>A	X.37:g.111155832C>T	ENSP00000262839:p.Arg196Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R196Q	ENST00000262839.2	37	c.587	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.326726	0.95708	.	.	ENSG00000072315	ENST00000262839	D	0.84516	-1.86	5.65	5.65	0.86999	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.95850	3.73	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.76575	0.969;0.988	D	0.96476	0.9352	10	0.72032	D	0.01	-3.3647	18.7593	0.91843	0.0:1.0:0.0:0.0	.	197;196	Q59G51;Q9UL62	.;TRPC5_HUMAN	Q	196	ENSP00000262839:R196Q	ENSP00000262839:R196Q	R	-	2	0	TRPC5	111042488	0.999000	0.42202	0.901000	0.35422	0.935000	0.57460	7.815000	0.86186	2.375000	0.81037	0.529000	0.55759	CGA	TRPC5	-	pfam_TRP_dom,tigrfam_TRP_channel	ENSG00000072315		0.567	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	200	0.99	2	C	NM_012471		111155832	111155832	-1	no_errors	ENST00000262839	ensembl	human	known	69_37n	missense	152	28.84	62	SNP	0.997	T
TTC31	64427	genome.wustl.edu	37	2	74719773	74719773	+	Splice_Site	SNP	C	C	T			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr2:74719773C>T	ENST00000233623.5	+	12	1169	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	388										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGGACCAAAGCGCTTCAGAGA	0.527																																						dbGAP											0													61.0	62.0	62.0					2																	74719773		1889	4124	6013	-	-	-	SO:0001630	splice_region_variant	0			AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.1162-1C>T	2.37:g.74719773C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R388C	ENST00000233623.5	37	c.1162	CCDS42701.1	2	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904655	0.52333	.	.	ENSG00000115282	ENST00000233623	D	0.89746	-2.56	4.26	2.28	0.28536	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.068639	0.50627	D	0.000115	D	0.91459	0.7304	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61658	0.892;0.892	D	0.89867	0.4020	10	0.87932	D	0	.	5.5041	0.16844	0.1962:0.69:0.0:0.1137	.	356;388	Q86XF2;Q49AM3	.;TTC31_HUMAN	C	388	ENSP00000233623:R388C	ENSP00000233623:R388C	R	+	1	0	TTC31	74573281	0.858000	0.29795	0.938000	0.37757	0.622000	0.37654	0.651000	0.24873	0.914000	0.36822	0.491000	0.48974	CGC	TTC31	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000115282		0.527	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC31	HGNC	protein_coding	OTTHUMT00000328422.1	121	0.00	0	C	NM_022492	Missense_Mutation	74719773	74719773	+1	no_errors	ENST00000233623	ensembl	human	novel	69_37n	missense	96	24.41	31	SNP	0.923	T
VPS13C	54832	genome.wustl.edu	37	15	62146723	62146723	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr15:62146723G>A	ENST00000261517.5	-	85	11268	c.11195C>T	c.(11194-11196)aCg>aTg	p.T3732M	VPS13C_ENST00000249837.3_Missense_Mutation_p.T3689M|RP11-16B9.1_ENST00000559251.1_RNA	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.T3732M(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGCTGTCTCGTTGACTGTGC	0.408																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											213.0	189.0	197.0					15																	62146723		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11195C>T	15.37:g.62146723G>A	ENSP00000261517:p.Thr3732Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.T3732M	ENST00000261517.5	37	c.11195	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058772	0.19987	.	.	ENSG00000129003	ENST00000249837;ENST00000261517	T;T	0.44881	0.91;0.91	5.36	-0.816	0.10839	.	0.812146	0.11498	N	0.558019	T	0.24122	0.0584	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.10450	0.005;0.003	T	0.18650	-1.0330	10	0.59425	D	0.04	.	5.253	0.15532	0.325:0.3516:0.3234:0.0	.	3689;3732	Q709C8-3;Q709C8	.;VP13C_HUMAN	M	3689;3732	ENSP00000249837:T3689M;ENSP00000261517:T3732M	ENSP00000249837:T3689M	T	-	2	0	VPS13C	59934015	0.002000	0.14202	0.005000	0.12908	0.619000	0.37552	0.030000	0.13688	-0.287000	0.09064	0.650000	0.86243	ACG	VPS13C	-	NULL	ENSG00000129003		0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	216	0.00	0	G	NM_017684		62146723	62146723	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	179	17.13	37	SNP	0.008	A
ZP4	57829	genome.wustl.edu	37	1	238048592	238048592	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A1HG-01A-11D-A135-09	TCGA-C8-A1HG-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ba937e3d-30b7-4446-84fb-5f77831a4843	bfecb97d-fcf8-4508-8c7a-b2568f6e3972	g.chr1:238048592T>C	ENST00000366570.4	-	9	1342	c.1184A>G	c.(1183-1185)tAt>tGt	p.Y395C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	395	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGGGTCTGATAGTTGTCTCC	0.502																																					NSCLC(166;160 2029 11600 18754 19936)	dbGAP											0													66.0	65.0	65.0					1																	238048592		2203	4300	6503	-	-	-	SO:0001583	missense	0			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1184A>G	1.37:g.238048592T>C	ENSP00000355529:p.Tyr395Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAE1	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.Y395C	ENST00000366570.4	37	c.1184	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000569	0.74818	.	.	ENSG00000116996	ENST00000366570	D	0.82893	-1.66	5.1	5.1	0.69264	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.92841	0.7723	M	0.93720	3.45	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94321	0.7553	10	0.87932	D	0	-21.9435	12.8727	0.57975	0.0:0.0:0.0:1.0	.	395	Q12836	ZP4_HUMAN	C	395	ENSP00000355529:Y395C	ENSP00000355529:Y395C	Y	-	2	0	ZP4	236115215	1.000000	0.71417	0.702000	0.30337	0.989000	0.77384	4.967000	0.63722	1.927000	0.55829	0.533000	0.62120	TAT	ZP4	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000116996		0.502	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	230	0.00	0	T			238048592	238048592	-1	no_errors	ENST00000366570	ensembl	human	known	69_37n	missense	138	31.00	62	SNP	0.991	C
