#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
ARAP3	64411	genome.wustl.edu	37	5	141037949	141037949	+	Missense_Mutation	SNP	C	C	T	rs116485474		TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr5:141037949C>T	ENST00000239440.4	-	25	3574	c.3509G>A	c.(3508-3510)cGc>cAc	p.R1170H	ARAP3_ENST00000508305.1_Missense_Mutation_p.R1001H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R832H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1170	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCATGCTCGCGAATCTCAAA	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													178.0	127.0	144.0					5																	141037949		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3509G>A	5.37:g.141037949C>T	ENSP00000239440:p.Arg1170His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.R1170H	ENST00000239440.4	37	c.3509	CCDS4266.1	5	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.62	2.588793	0.46110	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.74106	-0.81;-0.81;-0.81	5.97	0.227	0.15359	Ras-association (2);	0.921655	0.09289	N	0.822647	T	0.72875	0.3515	L	0.29908	0.895	0.09310	N	0.999993	P;D;P	0.54964	0.919;0.969;0.938	P;B;P	0.49953	0.627;0.36;0.471	T	0.66646	-0.5871	10	0.34782	T	0.22	.	19.1794	0.93617	0.8324:0.1676:0.0:0.0	.	832;1001;1170	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	1001;1170;832	ENSP00000421826:R1001H;ENSP00000239440:R1170H;ENSP00000421468:R832H	ENSP00000239440:R1170H	R	-	2	0	ARAP3	141018133	0.527000	0.26306	0.034000	0.17996	0.950000	0.60333	1.431000	0.34925	-0.293000	0.08986	0.655000	0.94253	CGC	ARAP3	-	pfam_Ras-assoc,pfscan_Ras-assoc	ENSG00000120318		0.547	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	132	0.00	0	C	NM_022481		141037949	141037949	-1	no_errors	ENST00000239440	ensembl	human	known	69_37n	missense	74	47.92	69	SNP	0.100	T
BORA	79866	genome.wustl.edu	37	13	73321012	73321012	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr13:73321012G>C	ENST00000390667.5	+	10	1342	c.1245G>C	c.(1243-1245)gaG>gaC	p.E415D	BORA_ENST00000377815.3_Missense_Mutation_p.E345D	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	415					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										GTGCTTCTGAGAAAGAATTAG	0.418																																						dbGAP											0													121.0	114.0	117.0					13																	73321012		1931	4129	6060	-	-	-	SO:0001583	missense	0			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1245G>C	13.37:g.73321012G>C	ENSP00000375082:p.Glu415Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	prints_Aurora_borealis_protien	p.E415D	ENST00000390667.5	37	c.1245	CCDS9446.1	13	.	.	.	.	.	.	.	.	.	.	G	8.052	0.766114	0.15983	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.32753	1.44;1.45	5.7	3.74	0.42951	.	0.433687	0.26463	N	0.024236	T	0.20901	0.0503	L	0.48362	1.52	0.25122	N	0.990637	B;B;B;B	0.12013	0.005;0.001;0.002;0.001	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.13548	-1.0505	10	0.22706	T	0.39	-9.1671	3.1792	0.06578	0.168:0.1264:0.5594:0.1462	.	345;415;475;415	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	D	345;415	ENSP00000367046:E345D;ENSP00000375082:E415D	ENSP00000367046:E345D	E	+	3	2	BORA	72219013	1.000000	0.71417	0.640000	0.29408	0.923000	0.55619	1.219000	0.32479	1.275000	0.44379	0.655000	0.94253	GAG	BORA	-	NULL	ENSG00000136122		0.418	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	279	0.00	0	G	NM_024808		73321012	73321012	+1	no_errors	ENST00000390667	ensembl	human	known	69_37n	missense	340	13.27	52	SNP	0.595	C
BRPF3	27154	genome.wustl.edu	37	6	36198260	36198260	+	Silent	SNP	G	G	A	rs201170312	byFrequency	TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr6:36198260G>A	ENST00000357641.6	+	13	3745	c.3492G>A	c.(3490-3492)aaG>aaA	p.K1164K	BRPF3_ENST00000443324.2_Silent_p.K830K|BRPF3_ENST00000543502.1_Silent_p.K894K|BRPF3_ENST00000339717.7_Silent_p.K894K|BRPF3_ENST00000534694.1_Silent_p.K830K|BRPF3_ENST00000534400.1_3'UTR	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1164					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCGTGGACAAGCTCAAGATGC	0.592													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18935	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													96.0	82.0	86.0					6																	36198260		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3492G>A	6.37:g.36198260G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.K1164	ENST00000357641.6	37	c.3492	CCDS34437.1	6																																																																																			BRPF3	-	NULL	ENSG00000096070		0.592	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	97	0.00	0	G	NM_015695		36198260	36198260	+1	no_errors	ENST00000357641	ensembl	human	known	69_37n	silent	89	34.56	47	SNP	1.000	A
C6	729	genome.wustl.edu	37	5	41201759	41201759	+	Missense_Mutation	SNP	C	C	G	rs554079156		TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr5:41201759C>G	ENST00000263413.3	-	3	465	c.201G>C	c.(199-201)aaG>aaC	p.K67N	C6_ENST00000337836.5_Missense_Mutation_p.K67N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	67	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAGTCTCCTGCTTGCTGCAAA	0.418																																						dbGAP											0													115.0	112.0	113.0					5																	41201759		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.201G>C	5.37:g.41201759C>G	ENSP00000263413:p.Lys67Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.K67N	ENST00000263413.3	37	c.201	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305458	0.40795	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.60797	0.16;0.16;0.16	5.92	1.19	0.21007	.	0.492312	0.25590	N	0.029632	T	0.50565	0.1623	L	0.41961	1.31	0.09310	N	1	P	0.48294	0.908	P	0.53062	0.717	T	0.35992	-0.9766	10	0.28530	T	0.3	-6.17	1.5705	0.02614	0.1338:0.3611:0.13:0.3751	.	67	P13671	CO6_HUMAN	N	67	ENSP00000338861:K67N;ENSP00000263413:K67N;ENSP00000396565:K67N	ENSP00000263413:K67N	K	-	3	2	C6	41237516	0.000000	0.05858	0.003000	0.11579	0.903000	0.53119	-0.647000	0.05397	0.133000	0.18654	0.655000	0.94253	AAG	C6	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000039537		0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	124	0.00	0	C			41201759	41201759	-1	no_errors	ENST00000263413	ensembl	human	known	69_37n	missense	222	11.20	28	SNP	0.001	G
CACNB2	783	genome.wustl.edu	37	10	18828215	18828215	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:18828215A>T	ENST00000324631.7	+	14	1605	c.1545A>T	c.(1543-1545)caA>caT	p.Q515H	CACNB2_ENST00000377319.3_Missense_Mutation_p.Q422H|CACNB2_ENST00000377331.2_Missense_Mutation_p.Q463H|CACNB2_ENST00000282343.8_Missense_Mutation_p.Q487H|CACNB2_ENST00000377315.4_Missense_Mutation_p.Q467H|CACNB2_ENST00000377329.4_Missense_Mutation_p.Q461H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.Q491H|CACNB2_ENST00000377328.1_Missense_Mutation_p.Q265H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000396576.2_Missense_Mutation_p.Q460H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	515					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGCTTCCCAAGCTGAAGAAG	0.567																																						dbGAP											0													93.0	85.0	88.0					10																	18828215		2203	4300	6503	-	-	-	SO:0001583	missense	0			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1545A>T	10.37:g.18828215A>T	ENSP00000320025:p.Gln515His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su	p.Q515H	ENST00000324631.7	37	c.1545	CCDS7125.1	10	.	.	.	.	.	.	.	.	.	.	A	9.203	1.028860	0.19512	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83250	-1.7;2.02;-1.68;-1.7;2.02;-1.67;-1.68;-1.67;-1.67	5.84	0.834	0.18880	.	0.646217	0.17482	N	0.172684	T	0.81182	0.4769	L	0.34521	1.04	0.32684	N	0.515118	B;B;D;B;B;B;B;B;B;B;B;B;B	0.71674	0.0;0.001;0.998;0.001;0.001;0.001;0.002;0.0;0.001;0.001;0.001;0.002;0.002	B;B;D;B;B;B;B;B;B;B;B;B;B	0.64776	0.0;0.002;0.929;0.001;0.002;0.002;0.002;0.001;0.002;0.004;0.002;0.006;0.002	T	0.78056	-0.2353	10	0.33940	T	0.23	-10.555	5.3291	0.15922	0.4428:0.2634:0.2937:0.0	.	429;487;265;467;437;461;471;422;463;487;477;491;515	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	515;491;265;487;463;460;422;461;467	ENSP00000320025:Q515H;ENSP00000344474:Q491H;ENSP00000366545:Q265H;ENSP00000282343:Q487H;ENSP00000366548:Q463H;ENSP00000379821:Q460H;ENSP00000366536:Q422H;ENSP00000366546:Q461H;ENSP00000366532:Q467H	ENSP00000282343:Q487H	Q	+	3	2	CACNB2	18868221	0.780000	0.28664	0.809000	0.32408	0.624000	0.37722	0.609000	0.24238	0.113000	0.18004	0.533000	0.62120	CAA	CACNB2	-	NULL	ENSG00000165995		0.567	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB2	HGNC	protein_coding	OTTHUMT00000047072.2	65	0.00	0	A	NM_000724		18828215	18828215	+1	no_errors	ENST00000324631	ensembl	human	known	69_37n	missense	114	16.18	22	SNP	0.363	T
CCAR1	55749	genome.wustl.edu	37	10	70547978	70547978	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:70547978A>C	ENST00000265872.6	+	23	3199	c.3080A>C	c.(3079-3081)tAc>tCc	p.Y1027S	CCAR1_ENST00000543719.1_Missense_Mutation_p.Y1012S|CCAR1_ENST00000535016.1_Missense_Mutation_p.Y1012S	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1027					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CTCATTGTGTACAATGGTGCA	0.368																																						dbGAP											0													126.0	126.0	126.0					10																	70547978		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.3080A>C	10.37:g.70547978A>C	ENSP00000265872:p.Tyr1027Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.Y1027S	ENST00000265872.6	37	c.3080	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	A	24.1	4.488141	0.84854	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539	T;T;T;T	0.00318	8.12;8.12;8.12;8.12	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.00637	0.0021	M	0.72894	2.215	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	T	0.82102	-0.0623	10	0.52906	T	0.07	-5.9506	15.3305	0.74203	1.0:0.0:0.0:0.0	.	1027	Q8IX12	CCAR1_HUMAN	S	1027;1012;1012;1012	ENSP00000265872:Y1027S;ENSP00000441820:Y1012S;ENSP00000445254:Y1012S;ENSP00000439252:Y1012S	ENSP00000265872:Y1027S	Y	+	2	0	CCAR1	70217984	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	6.992000	0.76238	2.012000	0.59069	0.460000	0.39030	TAC	CCAR1	-	NULL	ENSG00000060339		0.368	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	78	0.00	0	A	NM_018237		70547978	70547978	+1	no_errors	ENST00000265872	ensembl	human	known	69_37n	missense	209	11.81	28	SNP	1.000	C
CD109	135228	genome.wustl.edu	37	6	74519742	74519742	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr6:74519742C>G	ENST00000287097.5	+	27	3503	c.3391C>G	c.(3391-3393)Ctt>Gtt	p.L1131V	CD109_ENST00000437994.2_Missense_Mutation_p.L1131V|CD109_ENST00000422508.2_Missense_Mutation_p.L1054V			Q6YHK3	CD109_HUMAN	CD109 molecule	1131					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAGTCCAAACTTTCTGACTC	0.408																																						dbGAP											0													68.0	66.0	67.0					6																	74519742		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3391C>G	6.37:g.74519742C>G	ENSP00000287097:p.Leu1131Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L1131V	ENST00000287097.5	37	c.3391	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	6.071	0.381425	0.11524	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.32753	1.44;1.44;1.44	5.4	5.4	0.78164	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.819131	0.11258	N	0.582891	T	0.09423	0.0232	L	0.29908	0.895	0.26212	N	0.97928	B;B;B	0.25772	0.134;0.021;0.061	B;B;B	0.25759	0.045;0.022;0.063	T	0.12734	-1.0536	10	0.08179	T	0.78	.	13.4536	0.61184	0.1664:0.8336:0.0:0.0	.	1054;1131;1131	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	V	1131;1054;1131	ENSP00000388062:L1131V;ENSP00000404475:L1054V;ENSP00000287097:L1131V	ENSP00000287097:L1131V	L	+	1	0	CD109	74576463	0.113000	0.22115	0.129000	0.21949	0.262000	0.26303	1.188000	0.32102	2.814000	0.96858	0.655000	0.94253	CTT	CD109	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000156535		0.408	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	67	0.00	0	C	NM_133493		74519742	74519742	+1	no_errors	ENST00000287097	ensembl	human	known	69_37n	missense	76	14.61	13	SNP	0.372	G
CDH23	64072	genome.wustl.edu	37	10	73553339	73553339	+	Silent	SNP	C	C	T	rs537236734	byFrequency	TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:73553339C>T	ENST00000224721.6	+	47	6674	c.6669C>T	c.(6667-6669)gaC>gaT	p.D2223D	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2218	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 8; BAB61902). {ECO:0000305}.	calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGCCAAGGACGACACTGATC	0.577																																						dbGAP											0													54.0	60.0	58.0					10																	73553339		2136	4246	6382	-	-	-	SO:0001819	synonymous_variant	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6669C>T	10.37:g.73553339C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D2221	ENST00000224721.6	37	c.6663		10																																																																																			CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	49	0.00	0	C	NM_052836		73553339	73553339	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	silent	50	16.67	10	SNP	0.135	T
CERS4	79603	genome.wustl.edu	37	19	8316117	8316117	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr19:8316117C>T	ENST00000251363.5	+	3	457	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	CERS4_ENST00000559336.1_Missense_Mutation_p.R53C|CERS4_ENST00000595722.1_Intron|CERS4_ENST00000558331.1_Missense_Mutation_p.R2C|CERS4_ENST00000559450.1_Missense_Mutation_p.R53C	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	53					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCTGGCCATGCGCCTTGCCTT	0.627																																						dbGAP											0													95.0	97.0	96.0					19																	8316117		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.157C>T	19.37:g.8316117C>T	ENSP00000251363:p.Arg53Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W665	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.R53C	ENST00000251363.5	37	c.157	CCDS12197.1	19	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327582	0.41197	.	.	ENSG00000090661	ENST00000251363	T	0.75821	-0.97	4.22	3.07	0.35406	.	0.000000	0.64402	D	0.000001	D	0.87740	0.6253	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89297	0.3623	10	0.87932	D	0	-25.8631	9.8945	0.41309	0.2187:0.7813:0.0:0.0	.	53;53	Q53HF9;Q9HA82	.;CERS4_HUMAN	C	53	ENSP00000251363:R53C	ENSP00000251363:R53C	R	+	1	0	CERS4	8222117	0.605000	0.26941	0.130000	0.21974	0.309000	0.27889	1.094000	0.30951	1.917000	0.55516	0.460000	0.39030	CGC	CERS4	-	pirsf_Longevity_assurance_LAG1_LAC1	ENSG00000090661		0.627	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS4	HGNC	protein_coding	OTTHUMT00000419200.1	36	0.00	0	C	NM_024552		8316117	8316117	+1	no_errors	ENST00000251363	ensembl	human	known	69_37n	missense	42	17.31	9	SNP	0.719	T
CLEC4F	165530	genome.wustl.edu	37	2	71036922	71036922	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr2:71036922C>A	ENST00000272367.2	-	6	1683	c.1607G>T	c.(1606-1608)gGc>gTc	p.G536V	CLEC4F_ENST00000426626.1_Missense_Mutation_p.G536V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	536	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCGCCAGGAGCCCTCTGTGCC	0.557																																					Colon(107;10 2157 6841 26035)	dbGAP											0													157.0	142.0	147.0					2																	71036922		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1607G>T	2.37:g.71036922C>A	ENSP00000272367:p.Gly536Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPA5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.G536V	ENST00000272367.2	37	c.1607	CCDS1910.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996083	0.74703	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.23552	1.9;1.9	4.29	3.39	0.38822	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.54695	0.1874	M	0.91872	3.25	0.23421	N	0.997713	D;P	0.89917	1.0;0.803	D;P	0.79784	0.993;0.757	T	0.45145	-0.9281	9	0.87932	D	0	.	7.3981	0.26948	0.0:0.8805:0.0:0.1195	.	536;536	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	V	536	ENSP00000272367:G536V;ENSP00000390581:G536V	ENSP00000272367:G536V	G	-	2	0	CLEC4F	70890430	0.095000	0.21747	0.623000	0.29173	0.798000	0.45092	0.351000	0.20096	2.112000	0.64535	0.460000	0.39030	GGC	CLEC4F	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	ENSG00000152672		0.557	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	125	0.00	0	C	NM_173535		71036922	71036922	-1	no_errors	ENST00000272367	ensembl	human	known	69_37n	missense	245	12.81	36	SNP	0.068	A
CNTLN	54875	genome.wustl.edu	37	9	17502601	17502601	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr9:17502601A>G	ENST00000380647.3	+	26	4256	c.4172A>G	c.(4171-4173)aAa>aGa	p.K1391R	CNTLN_ENST00000425824.1_Missense_Mutation_p.K1391R			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	0					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATAAATGAAAAAAAGAAACTA	0.264																																						dbGAP											0													37.0	34.0	35.0					9																	17502601		1773	4050	5823	-	-	-	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.4172A>G	9.37:g.17502601A>G	ENSP00000370021:p.Lys1391Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.K1391R	ENST00000380647.3	37	c.4172	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	A	9.574	1.121871	0.20877	.	.	ENSG00000044459	ENST00000380647;ENST00000425824	T;T	0.17370	2.28;2.28	5.73	2.14	0.27477	.	.	.	.	.	T	0.10165	0.0249	L	0.27053	0.805	0.80722	D	1	B	0.13145	0.007	B	0.16722	0.016	T	0.18999	-1.0319	9	0.09338	T	0.73	.	9.4255	0.38576	0.7989:0.0:0.2011:0.0	.	1391	Q9NXG0-2	.	R	1391	ENSP00000370021:K1391R;ENSP00000392798:K1391R	ENSP00000370021:K1391R	K	+	2	0	CNTLN	17492601	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.743000	0.47442	0.121000	0.18284	-0.290000	0.09829	AAA	CNTLN	-	NULL	ENSG00000044459		0.264	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	75	0.00	0	A	NM_017738		17502601	17502601	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	missense	52	24.64	17	SNP	1.000	G
CYP2C19	1557	genome.wustl.edu	37	10	96609770	96609770	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:96609770G>T	ENST00000371321.3	+	8	1328	c.1246G>T	c.(1246-1248)Ggt>Tgt	p.G416C	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	416					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TCTGGATGAAGGTGGAAATTT	0.378																																						dbGAP											0													130.0	124.0	126.0					10																	96609770		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1246G>T	10.37:g.96609770G>T	ENSP00000360372:p.Gly416Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G416C	ENST00000371321.3	37	c.1246	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663394	0.14710	.	.	ENSG00000165841	ENST00000371321	T	0.68479	-0.33	3.5	2.35	0.29111	.	0.145040	0.42964	U	0.000630	T	0.70552	0.3237	L	0.47190	1.495	0.09310	N	1	D	0.59767	0.986	D	0.66351	0.943	T	0.60198	-0.7310	10	0.87932	D	0	.	6.7659	0.23566	0.8773:0.0:0.1227:0.0	.	416	P33261	CP2CJ_HUMAN	C	416	ENSP00000360372:G416C	ENSP00000360372:G416C	G	+	1	0	CYP2C19	96599760	0.000000	0.05858	0.028000	0.17463	0.136000	0.21042	0.160000	0.16462	0.370000	0.24538	-0.331000	0.08364	GGT	CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000165841		0.378	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	338	0.00	0	G	NM_000769		96609770	96609770	+1	no_errors	ENST00000371321	ensembl	human	known	69_37n	missense	530	11.52	69	SNP	0.064	T
DPYSL5	56896	genome.wustl.edu	37	2	27164906	27164906	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr2:27164906G>A	ENST00000288699.6	+	10	1336	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	DPYSL5_ENST00000401478.1_Missense_Mutation_p.R393H	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	393					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCAAGGGCCGCATTATTCCC	0.532											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													121.0	123.0	123.0					2																	27164906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1178G>A	2.37:g.27164906G>A	ENSP00000288699:p.Arg393His	Somatic	792	WXS	Illumina GAIIx	Phase_IV	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R393H	ENST00000288699.6	37	c.1178	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039674	0.93630	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.90504	-2.68;-2.68	5.62	5.62	0.85841	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	M	0.89601	3.045	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.96281	0.9206	10	0.54805	T	0.06	-22.4662	18.4289	0.90618	0.0:0.0:1.0:0.0	.	393	Q9BPU6	DPYL5_HUMAN	H	393	ENSP00000288699:R393H;ENSP00000385549:R393H	ENSP00000288699:R393H	R	+	2	0	DPYSL5	27018410	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	9.701000	0.98710	2.667000	0.90743	0.561000	0.74099	CGC	DPYSL5	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000157851		0.532	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	78	0.00	0	G	NM_020134		27164906	27164906	+1	no_errors	ENST00000288699	ensembl	human	known	69_37n	missense	118	12.59	17	SNP	1.000	A
ECE2	9718	genome.wustl.edu	37	3	183995195	183995195	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr3:183995195G>A	ENST00000402825.3	+	4	773	c.773G>A	c.(772-774)cGc>cAc	p.R258H	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.R140H|ECE2_ENST00000359140.4_Missense_Mutation_p.R111H|ECE2_ENST00000357474.5_Missense_Mutation_p.R186H	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	258	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGCGTTCTCGCTGGAACACC	0.612																																						dbGAP											0													49.0	48.0	49.0					3																	183995195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.773G>A	3.37:g.183995195G>A	ENSP00000384223:p.Arg258His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.R258H	ENST00000402825.3	37	c.773	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826516	0.71143	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.97	5.97	0.96955	Peptidase M13 (1);	0.109910	0.53938	D	0.000042	T	0.69691	0.3139	L	0.61218	1.895	0.53005	D	0.999963	P;P;B;B;B;B	0.50156	0.458;0.932;0.301;0.403;0.266;0.171	B;B;B;B;B;B	0.38296	0.07;0.27;0.011;0.042;0.029;0.024	T	0.74077	-0.3781	10	0.54805	T	0.06	-19.1129	13.2711	0.60161	0.0762:0.0:0.9238:0.0	.	111;186;140;186;111;258	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	H	258;111;140;186;132	ENSP00000384223:R258H;ENSP00000352052:R111H;ENSP00000385846:R140H;ENSP00000350066:R186H;ENSP00000398444:R132H	ENSP00000350066:R186H	R	+	2	0	ECE2	185477889	0.993000	0.37304	1.000000	0.80357	0.941000	0.58515	4.658000	0.61497	2.837000	0.97791	0.655000	0.94253	CGC	ECE2	-	pfam_Peptidase_M13_N	ENSG00000145194		0.612	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	20	0.00	0	G	NM_014693		183995195	183995195	+1	no_errors	ENST00000402825	ensembl	human	known	69_37n	missense	14	50.00	15	SNP	1.000	A
EMC1	23065	genome.wustl.edu	37	1	19546186	19546188	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr1:19546186_19546188delCTC	ENST00000477853.1	-	22	2719_2721	c.2677_2679delGAG	c.(2677-2679)gagdel	p.E893del	EMC1_ENST00000375208.3_In_Frame_Del_p.E871del|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_In_Frame_Del_p.E892del|EMC1_ENST00000480380.1_5'UTR	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	893						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GGATTAAGTTCTCCTCTCTGCAA	0.502																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2677_2679delGAG	1.37:g.19546189_19546191delCTC	ENSP00000420608:p.Glu893del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	In_Frame_Del	DEL	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.E893in_frame_del	ENST00000477853.1	37	c.2679_2677	CCDS190.1	1																																																																																			EMC1	-	pfam_DUF1620	ENSG00000127463		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	96	0.00	0	CTC	NM_015047		19546186	19546188	-1	no_errors	ENST00000477853	ensembl	human	known	69_37n	in_frame_del	84	46.54	74	DEL	1.000:1.000:1.000	-
ENOX2	10495	genome.wustl.edu	37	X	129804095	129804095	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chrX:129804095C>A	ENST00000370927.1	-	5	646	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	ENOX2_ENST00000370935.1_Missense_Mutation_p.D180Y|ENOX2_ENST00000338144.3_Missense_Mutation_p.D209Y|ENOX2_ENST00000394363.1_Missense_Mutation_p.D180Y			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	209					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TACAGGTCATCTCGAGCCTGT	0.522																																					Ovarian(101;828 1506 2951 9500 35258)	dbGAP											0													153.0	113.0	126.0					X																	129804095		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.625G>T	X.37:g.129804095C>A	ENSP00000359965:p.Asp209Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D209Y	ENST00000370927.1	37	c.625	CCDS14626.1	X	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439713	0.83885	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.979	T	0.78658	-0.2118	8	.	.	.	-19.7227	14.9352	0.70948	0.0:1.0:0.0:0.0	.	209;237	Q16206;A4QPE1	ENOX2_HUMAN;.	Y	180;180;209;180;237;209;180	.	.	D	-	1	0	ENOX2	129631776	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.245000	0.78237	2.407000	0.81776	0.600000	0.82982	GAT	ENOX2	-	NULL	ENSG00000165675		0.522	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	HGNC	protein_coding	OTTHUMT00000058277.1	113	0.88	1	C	NM_182314		129804095	129804095	-1	no_errors	ENST00000338144	ensembl	human	known	69_37n	missense	100	15.97	19	SNP	1.000	A
EXT1	2131	genome.wustl.edu	37	8	119122327	119122327	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr8:119122327delT	ENST00000378204.2	-	1	1765	c.959delA	c.(958-960)gagfs	p.E320fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	320					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CACTTACTTCTCATACTCGGT	0.572			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													dbGAP	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													101.0	103.0	102.0					8																	119122327		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.959delA	8.37:g.119122327delT	ENSP00000367446:p.Glu320fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7V2|Q9BVI9	Frame_Shift_Del	DEL	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.E320fs	ENST00000378204.2	37	c.959	CCDS6324.1	8																																																																																			EXT1	-	pfam_Exostosin	ENSG00000182197		0.572	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	81	0.00	0	T	NM_000127		119122327	119122327	-1	no_errors	ENST00000378204	ensembl	human	known	69_37n	frame_shift_del	172	10.82	21	DEL	1.000	-
FAM92A1P2	403315	genome.wustl.edu	37	4	183959352	183959352	+	RNA	SNP	T	T	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr4:183959352T>G	ENST00000502308.1	+	0	535					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		ATCGACATGTTATTGTATCCT	0.473																																						dbGAP											0																																										-	-	-			0			BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183959352T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000502308.1	37	NULL		4																																																																																			FAM92A1P2	-	-	ENSG00000230219		0.473	FAM92A1P2-002	KNOWN	basic	processed_transcript	FAM92A1P2	HGNC	pseudogene	OTTHUMT00000361814.1	31	0.00	0	T			183959352	183959352	+1	no_errors	ENST00000502308	ensembl	human	known	69_37n	rna	13	23.53	4	SNP	0.997	G
FANCI	55215	genome.wustl.edu	37	15	89850860	89850860	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr15:89850860C>G	ENST00000310775.7	+	34	3694	c.3608C>G	c.(3607-3609)tCt>tGt	p.S1203C	FANCI_ENST00000300027.8_Missense_Mutation_p.S1143C	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1203					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTGTCTGGTTCTCATCTGACC	0.453								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													219.0	172.0	188.0					15																	89850860		2200	4299	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3608C>G	15.37:g.89850860C>G	ENSP00000310842:p.Ser1203Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.S1203C	ENST00000310775.7	37	c.3608	CCDS45346.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.223259|4.223259	0.79464|0.79464	.|.	.|.	ENSG00000140525|ENSG00000140525	ENST00000447611|ENST00000300027;ENST00000310775	T|D;D	0.57107|0.84223	0.42|-1.82;-1.82	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.052012	.|0.85682	.|D	.|0.000000	D|D	0.92257|0.92257	0.7544|0.7544	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.78314	.|0.976;0.991;0.991	D|D	0.92172|0.92172	0.5744|0.5744	7|10	0.02654|0.66056	T|D	1|0.02	-13.3442|-13.3442	19.9624|19.9624	0.97256|0.97256	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1203;1142;1143	.|Q9NVI1;Q9NVI1-2;Q9NVI1-1	.|FANCI_HUMAN;.;.	L|C	1080|1143;1203	ENSP00000413249:F1080L|ENSP00000300027:S1143C;ENSP00000310842:S1203C	ENSP00000413249:F1080L|ENSP00000300027:S1143C	F|S	+|+	3|2	2|0	FANCI|FANCI	87651864|87651864	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.946000|0.946000	0.59487|0.59487	7.476000|7.476000	0.81055|0.81055	2.733000|2.733000	0.93635|0.93635	0.555000|0.555000	0.69702|0.69702	TTC|TCT	FANCI	-	NULL	ENSG00000140525		0.453	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	119	0.00	0	C	NM_018193		89850860	89850860	+1	no_errors	ENST00000310775	ensembl	human	known	69_37n	missense	179	15.17	32	SNP	1.000	G
FASTKD2	22868	genome.wustl.edu	37	2	207636961	207636961	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr2:207636961G>C	ENST00000236980.6	+	6	1519	c.1171G>C	c.(1171-1173)Gac>Cac	p.D391H	FASTKD2_ENST00000402774.3_Missense_Mutation_p.D391H|FASTKD2_ENST00000403094.3_Missense_Mutation_p.D391H	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	391					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GTCCTGCAAAGACCTCCAGTA	0.353																																						dbGAP											0													99.0	97.0	98.0					2																	207636961		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1171G>C	2.37:g.207636961G>C	ENSP00000236980:p.Asp391His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP	p.D391H	ENST00000236980.6	37	c.1171	CCDS2371.1	2	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979572	0.53827	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.14766	2.48;2.48;2.48	5.66	5.66	0.87406	.	0.225856	0.37348	N	0.002130	T	0.35913	0.0948	M	0.72118	2.19	0.44771	D	0.997777	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.923	T	0.03641	-1.1017	10	0.16420	T	0.52	-9.3941	18.5109	0.90916	0.0:0.0:1.0:0.0	.	391;391	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	H	391	ENSP00000236980:D391H;ENSP00000385990:D391H;ENSP00000384929:D391H	ENSP00000236980:D391H	D	+	1	0	FASTKD2	207345206	1.000000	0.71417	0.995000	0.50966	0.342000	0.28953	5.313000	0.65798	2.649000	0.89929	0.563000	0.77884	GAC	FASTKD2	-	NULL	ENSG00000118246		0.353	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD2	HGNC	protein_coding	OTTHUMT00000256428.2	219	0.00	0	G	NM_014929		207636961	207636961	+1	no_errors	ENST00000236980	ensembl	human	known	69_37n	missense	286	10.06	32	SNP	1.000	C
FZD4	8322	genome.wustl.edu	37	11	86663462	86663462	+	Silent	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr11:86663462G>A	ENST00000531380.1	-	2	641	c.336C>T	c.(334-336)atC>atT	p.I112I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	112	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGCCAATGGGGATGTTGATCT	0.453																																						dbGAP											0													115.0	124.0	121.0					11																	86663462		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.336C>T	11.37:g.86663462G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.I112	ENST00000531380.1	37	c.336	CCDS8279.1	11																																																																																			FZD4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000174804		0.453	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	FZD4	HGNC	protein_coding	OTTHUMT00000393818.2	152	0.00	0	G	NM_012193		86663462	86663462	-1	no_errors	ENST00000531380	ensembl	human	known	69_37n	silent	34	63.04	58	SNP	1.000	A
GAD2	2572	genome.wustl.edu	37	10	26589870	26589870	+	Missense_Mutation	SNP	C	C	T	rs564481006		TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:26589870C>T	ENST00000376261.3	+	16	2241	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	GAD2_ENST00000259271.3_Missense_Mutation_p.R580C	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	580					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGAAATAGAACGCCTTGGACA	0.418																																						dbGAP											0													107.0	105.0	106.0					10																	26589870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1738C>T	10.37:g.26589870C>T	ENSP00000365437:p.Arg580Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UD87	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R580C	ENST00000376261.3	37	c.1738	CCDS7149.1	10	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244754	0.79912	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.40225	1.04;1.04	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.052860	0.85682	N	0.000000	T	0.72137	0.3423	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	P	0.61592	0.891	T	0.79264	-0.1875	10	0.87932	D	0	-16.5845	19.8579	0.96771	0.0:1.0:0.0:0.0	.	580	Q05329	DCE2_HUMAN	C	580	ENSP00000365437:R580C;ENSP00000259271:R580C	ENSP00000259271:R580C	R	+	1	0	GAD2	26629876	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.644000	0.67902	2.687000	0.91594	0.655000	0.94253	CGC	GAD2	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000136750		0.418	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	HGNC	protein_coding	OTTHUMT00000047255.1	229	0.00	0	C	NM_000818		26589870	26589870	+1	no_errors	ENST00000259271	ensembl	human	known	69_37n	missense	205	42.58	152	SNP	1.000	T
GLRX	2745	genome.wustl.edu	37	5	95152314	95152314	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr5:95152314A>G	ENST00000379979.4	-	2	275	c.224T>C	c.(223-225)aTt>aCt	p.I75T	GLRX_ENST00000505427.1_Missense_Mutation_p.I75T|GLRX_ENST00000512469.2_Missense_Mutation_p.I75T|GLRX_ENST00000237858.6_Missense_Mutation_p.I75T|GLRX_ENST00000508780.1_Missense_Mutation_p.I75T|GLRX_ENST00000507605.1_5'UTR	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	75	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of membrane potential (GO:0045838)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein deglutathionylation (GO:0080058)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|glutathione oxidoreductase activity (GO:0097573)|protein N-terminus binding (GO:0047485)			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	ATCTTTACCAATAAAGACTCG	0.438																																						dbGAP											0													70.0	66.0	68.0					5																	95152314		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4078.1	5q14	2008-02-05			ENSG00000173221	ENSG00000173221			4330	protein-coding gene	gene with protein product		600443				8838810	Standard	NM_002064		Approved	GRX, GRX1	uc021ybo.1	P35754	OTTHUMG00000121167	ENST00000379979.4:c.224T>C	5.37:g.95152314A>G	ENSP00000369314:p.Ile75Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4L2|Q3KQS1|Q6ICT1	Missense_Mutation	SNP	pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir	p.I75T	ENST00000379979.4	37	c.224	CCDS4078.1	5	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907776	0.52333	.	.	ENSG00000173221	ENST00000508780;ENST00000237858;ENST00000379979;ENST00000505427;ENST00000512469	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	4.97	3.77	0.43336	Glutaredoxin subgroup (1);Glutaredoxin (2);Glutaredoxin, eukaryotic/virial (1);Thioredoxin-like fold (2);	0.105878	0.64402	D	0.000007	T	0.75474	0.3854	H	0.95151	3.63	0.28578	N	0.910292	B	0.31879	0.344	D	0.66979	0.948	T	0.71244	-0.4650	10	0.72032	D	0.01	-8.2967	8.5112	0.33217	0.804:0.196:0.0:0.0	.	75	P35754	GLRX1_HUMAN	T	75	ENSP00000422708:I75T;ENSP00000237858:I75T;ENSP00000369314:I75T;ENSP00000427353:I75T;ENSP00000424636:I75T	ENSP00000237858:I75T	I	-	2	0	GLRX	95178070	0.616000	0.27035	0.001000	0.08648	0.017000	0.09413	5.983000	0.70540	0.881000	0.35993	0.459000	0.35465	ATT	GLRX	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir	ENSG00000173221		0.438	GLRX-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GLRX	HGNC	protein_coding	OTTHUMT00000370267.1	119	0.00	0	A	NM_002064		95152314	95152314	-1	no_errors	ENST00000237858	ensembl	human	known	69_37n	missense	97	53.14	110	SNP	0.118	G
GMEB1	10691	genome.wustl.edu	37	1	29041080	29041080	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr1:29041080C>T	ENST00000294409.2	+	10	1607	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L	GMEB1_ENST00000361872.4_Missense_Mutation_p.S496L|GMEB1_ENST00000373816.1_Missense_Mutation_p.S496L|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	506					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTAACCTCGGCAATTCAG	0.552																																						dbGAP											0													71.0	56.0	61.0					1																	29041080		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1517C>T	1.37:g.29041080C>T	ENSP00000294409:p.Ser506Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.S506L	ENST00000294409.2	37	c.1517	CCDS327.1	1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277848	0.40294	.	.	ENSG00000162419	ENST00000373816;ENST00000361872;ENST00000294409	T;T;T	0.57752	0.38;0.38;0.38	5.75	5.75	0.90469	.	0.397992	0.26723	N	0.022839	T	0.45458	0.1343	L	0.36672	1.1	0.23150	N	0.998219	B;B	0.25105	0.118;0.118	B;B	0.15484	0.013;0.007	T	0.44421	-0.9329	10	0.59425	D	0.04	-23.1877	16.8601	0.86016	0.0:1.0:0.0:0.0	.	506;496	Q9Y692;B1AT47	GMEB1_HUMAN;.	L	496;496;506	ENSP00000362922:S496L;ENSP00000355186:S496L;ENSP00000294409:S506L	ENSP00000294409:S506L	S	+	2	0	GMEB1	28913667	0.989000	0.36119	0.986000	0.45419	0.954000	0.61252	2.946000	0.49050	2.716000	0.92895	0.655000	0.94253	TCG	GMEB1	-	NULL	ENSG00000162419		0.552	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	55	0.00	0	C	NM_006582		29041080	29041080	+1	no_errors	ENST00000294409	ensembl	human	known	69_37n	missense	90	16.67	18	SNP	0.964	T
HAO1	54363	genome.wustl.edu	37	20	7920978	7920978	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr20:7920978G>C	ENST00000378789.3	-	1	143	c.92C>G	c.(91-93)gCa>gGa	p.A31G		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	31	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTCATCATTTGCCCCAGACCT	0.333																																						dbGAP											0													70.0	69.0	70.0					20																	7920978		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.92C>G	20.37:g.7920978G>C	ENSP00000368066:p.Ala31Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.A31G	ENST00000378789.3	37	c.92	CCDS13100.1	20	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196414	0.78902	.	.	ENSG00000101323	ENST00000378789	T	0.39406	1.08	5.16	5.16	0.70880	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.046954	0.85682	D	0.000000	T	0.64227	0.2579	M	0.84846	2.72	0.80722	D	1	P;P	0.39964	0.697;0.697	P;P	0.51657	0.676;0.676	T	0.69665	-0.5084	10	0.87932	D	0	-23.5427	17.7728	0.88497	0.0:0.0:1.0:0.0	.	31;31	A8K058;Q9UJM8	.;HAOX1_HUMAN	G	31	ENSP00000368066:A31G	ENSP00000368066:A31G	A	-	2	0	HAO1	7868978	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.696000	0.84270	2.548000	0.85928	0.561000	0.74099	GCA	HAO1	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN	ENSG00000101323		0.333	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2	145	0.00	0	G			7920978	7920978	-1	no_errors	ENST00000378789	ensembl	human	known	69_37n	missense	201	11.84	27	SNP	1.000	C
HECTD4	283450	genome.wustl.edu	37	12	112707652	112707652	+	Splice_Site	SNP	A	A	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr12:112707652A>G	ENST00000430131.2	-	12	2026	c.881T>C	c.(880-882)gTg>gCg	p.V294A	HECTD4_ENST00000550722.1_Splice_Site_p.V582A|HECTD4_ENST00000377560.5_Splice_Site_p.V544A|RN7SKP71_ENST00000364558.1_RNA			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	294					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTTAAATACCACCTACAGAAA	0.368																																						dbGAP											0													56.0	58.0	57.0					12																	112707652		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.880-1T>C	12.37:g.112707652A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.V544A	ENST00000430131.2	37	c.1631		12	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091256	0.76756	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.57907	0.38;0.39;0.37	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	N	0.19112	0.55	0.50813	D	0.999898	P;P;P	0.52577	0.954;0.924;0.954	D;P;D	0.65140	0.932;0.9;0.932	T	0.64394	-0.6418	10	0.87932	D	0	.	16.1502	0.81611	1.0:0.0:0.0:0.0	.	294;294;294	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	A	544;294;582	ENSP00000366783:V544A;ENSP00000404379:V294A;ENSP00000449784:V582A	ENSP00000366783:V544A	V	-	2	0	C12orf51	111192035	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.897000	0.92532	2.203000	0.70933	0.460000	0.39030	GTG	HECTD4	-	NULL	ENSG00000173064		0.368	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		51	0.00	0	A	NM_173813	Missense_Mutation	112707652	112707652	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	missense	104	11.86	14	SNP	1.000	G
HHAT	55733	genome.wustl.edu	37	1	210637883	210637883	+	Silent	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr1:210637883C>T	ENST00000367010.1	+	8	1118	c.891C>T	c.(889-891)taC>taT	p.Y297Y	HHAT_ENST00000545154.1_Silent_p.Y298Y|HHAT_ENST00000541565.1_Silent_p.Y160Y|HHAT_ENST00000413764.2_Silent_p.Y297Y|HHAT_ENST00000545781.1_Silent_p.Y234Y|HHAT_ENST00000391905.3_Silent_p.Y297Y|HHAT_ENST00000308852.6_Silent_p.Y252Y|HHAT_ENST00000537898.1_Silent_p.Y232Y|HHAT_ENST00000261458.3_Silent_p.Y297Y|HHAT_ENST00000367009.1_5'UTR	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	297					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TCTTTTTCTACGTGAAGTACT	0.557																																						dbGAP											0													220.0	215.0	217.0					1																	210637883		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.891C>T	1.37:g.210637883C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	pfam_MBOAT_fam	p.Y297	ENST00000367010.1	37	c.891	CCDS1495.1	1																																																																																			HHAT	-	pfam_MBOAT_fam	ENSG00000054392		0.557	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HHAT	HGNC	protein_coding	OTTHUMT00000088662.1	151	0.65	1	C	NM_018194		210637883	210637883	+1	no_errors	ENST00000391905	ensembl	human	known	69_37n	silent	174	55.38	216	SNP	0.950	T
IFIT3	3437	genome.wustl.edu	37	10	91099111	91099111	+	Silent	SNP	C	C	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:91099111C>A	ENST00000371818.4	+	2	879	c.699C>A	c.(697-699)gcC>gcA	p.A233A	IFIT3_ENST00000371811.4_Silent_p.A233A|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	233					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TTGAAGAAGCCTTGGAAAAGT	0.443																																						dbGAP											0													62.0	66.0	64.0					10																	91099111		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.699C>A	10.37:g.91099111C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q99634|Q9BSK7	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A233	ENST00000371818.4	37	c.699	CCDS7402.1	10																																																																																			IFIT3	-	pfscan_TPR-contain_dom	ENSG00000119917		0.443	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT3	HGNC	protein_coding	OTTHUMT00000049294.1	244	0.00	0	C	NM_001549		91099111	91099111	+1	no_errors	ENST00000371811	ensembl	human	known	69_37n	silent	269	22.25	77	SNP	0.004	A
HPS6	79803	genome.wustl.edu	37	10	103825919	103825919	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:103825919G>A	ENST00000299238.5	+	1	773	c.688G>A	c.(688-690)Gcc>Acc	p.A230T		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	230					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GATGGTGGCTGCCCCACGGCT	0.617									Hermansky-Pudlak syndrome																													dbGAP											0													65.0	68.0	67.0					10																	103825919		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.688G>A	10.37:g.103825919G>A	ENSP00000299238:p.Ala230Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV69|Q9H685	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps6_subunit	p.A230T	ENST00000299238.5	37	c.688	CCDS7527.1	10	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864332	0.32977	.	.	ENSG00000166189	ENST00000299238	T	0.79749	-1.3	4.9	3.98	0.46160	.	0.262998	0.38217	N	0.001773	T	0.65407	0.2688	L	0.33485	1.01	0.29941	N	0.821086	B	0.28419	0.211	B	0.26094	0.066	T	0.55515	-0.8129	10	0.08179	T	0.78	-6.763	8.4115	0.32646	0.0776:0.0:0.7674:0.1549	.	230	Q86YV9	HPS6_HUMAN	T	230	ENSP00000299238:A230T	ENSP00000299238:A230T	A	+	1	0	HPS6	103815909	1.000000	0.71417	0.987000	0.45799	0.956000	0.61745	3.667000	0.54547	1.239000	0.43787	0.561000	0.74099	GCC	HPS6	-	pirsf_BLOC-2_complex_Hps6_subunit	ENSG00000166189		0.617	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	HGNC	protein_coding	OTTHUMT00000050018.2	34	0.00	0	G	NM_024747		103825919	103825919	+1	no_errors	ENST00000299238	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.958	A
KIAA1715	80856	genome.wustl.edu	37	2	176829238	176829238	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr2:176829238G>C	ENST00000272748.4	-	7	684	c.437C>G	c.(436-438)gCa>gGa	p.A146G	KIAA1715_ENST00000544803.1_Missense_Mutation_p.A146G|KIAA1715_ENST00000535310.1_Missense_Mutation_p.A71G	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	146					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TCTTACCTTTGCTTTCTTTGA	0.328																																						dbGAP											0													97.0	101.0	100.0					2																	176829238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.437C>G	2.37:g.176829238G>C	ENSP00000272748:p.Ala146Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	pfam_DUF2296	p.A146G	ENST00000272748.4	37	c.437	CCDS33332.1	2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686236	0.29962	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.4	5.4	0.78164	.	0.260386	0.45361	D	0.000364	T	0.42337	0.1198	L	0.51422	1.61	0.32057	N	0.596249	P;B;P;B	0.37663	0.604;0.349;0.47;0.139	B;B;B;B	0.34652	0.187;0.142;0.129;0.101	T	0.60188	-0.7312	9	0.87932	D	0	-6.8652	12.849	0.57846	0.0749:0.0:0.9251:0.0	.	148;146;143;146	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	G	146;148;23;146;71	.	ENSP00000272748:A146G	A	-	2	0	KIAA1715	176537484	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.023000	0.64084	2.681000	0.91329	0.650000	0.86243	GCA	KIAA1715	-	NULL	ENSG00000144320		0.328	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1715	HGNC	protein_coding	OTTHUMT00000333949.3	201	0.00	0	G	XM_042834		176829238	176829238	-1	no_errors	ENST00000544803	ensembl	human	known	69_37n	missense	253	13.06	38	SNP	1.000	C
MACF1	23499	genome.wustl.edu	37	1	39823076	39823076	+	Silent	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr1:39823076G>A	ENST00000372915.3	+	44	11556	c.11469G>A	c.(11467-11469)caG>caA	p.Q3823Q	MACF1_ENST00000567887.1_Silent_p.Q3855Q|MACF1_ENST00000564288.1_Silent_p.Q3818Q|MACF1_ENST00000545844.1_Silent_p.Q1756Q|MACF1_ENST00000289893.4_Silent_p.Q2258Q|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.Q1756Q|MACF1_ENST00000361689.2_Silent_p.Q1756Q|MACF1_ENST00000317713.7_Silent_p.Q1756Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3823					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTCCCAGCAGCAAAATTTCA	0.478																																						dbGAP											0													70.0	72.0	71.0					1																	39823076		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11469G>A	1.37:g.39823076G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_EF_HAND_2	p.A890T	ENST00000372915.3	37	c.2668		1	.	.	.	.	.	.	.	.	.	.	G	0.718	-0.784562	0.02907	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.07	3.21	0.36854	.	.	.	.	.	T	0.61862	0.2381	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56757	-0.7926	4	.	.	.	.	11.3074	0.49342	0.1955:0.0:0.8045:0.0	.	.	.	.	T	890	.	.	A	+	1	0	MACF1	39595663	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	2.913000	0.48790	0.456000	0.26937	0.655000	0.94253	GCA	MACF1	-	NULL	ENSG00000127603		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	105	0.00	0	G	NM_033044		39823076	39823076	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000372925	ensembl	human	novel	69_37n	missense	205	11.26	26	SNP	1.000	A
MCF2L2	23101	genome.wustl.edu	37	3	182923992	182923992	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr3:182923992A>T	ENST00000328913.3	-	24	3020	c.2723T>A	c.(2722-2724)cTt>cAt	p.L908H	MCF2L2_ENST00000473233.1_Missense_Mutation_p.L908H|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	908	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCGAATTGAAAGTGTCATCAG	0.408																																						dbGAP											0													127.0	115.0	119.0					3																	182923992		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2723T>A	3.37:g.182923992A>T	ENSP00000328118:p.Leu908His	Somatic		WXS	Illumina GAIIx	Phase_IV	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L908H	ENST00000328913.3	37	c.2723	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	A	15.75	2.925248	0.52759	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.13420	2.59;2.59	4.28	4.28	0.50868	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.172658	0.36815	N	0.002386	T	0.22003	0.0530	L	0.49126	1.545	0.80722	D	1	D	0.63046	0.992	P	0.54499	0.754	T	0.00763	-1.1576	10	0.87932	D	0	.	9.9782	0.41797	1.0:0.0:0.0:0.0	.	908	Q86YR7	MF2L2_HUMAN	H	908	ENSP00000328118:L908H;ENSP00000420070:L908H	ENSP00000328118:L908H	L	-	2	0	MCF2L2	184406686	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	4.016000	0.57159	1.926000	0.55796	0.460000	0.39030	CTT	MCF2L2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000053524		0.408	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	136	0.00	0	A	NM_015078		182923992	182923992	-1	no_errors	ENST00000328913	ensembl	human	known	69_37n	missense	373	13.66	59	SNP	0.997	T
MCM10	55388	genome.wustl.edu	37	10	13237244	13237244	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:13237244T>G	ENST00000484800.2	+	14	2055	c.1952T>G	c.(1951-1953)cTg>cGg	p.L651R	MCM10_ENST00000378694.1_Missense_Mutation_p.L650R|MCM10_ENST00000378714.3_Missense_Mutation_p.L650R			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	651					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGACCAAAACTGAGTGCTTTA	0.498																																						dbGAP											0													42.0	36.0	38.0					10																	13237244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1952T>G	10.37:g.13237244T>G	ENSP00000418268:p.Leu651Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.L651R	ENST00000484800.2	37	c.1952	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755669	0.69648	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.32272	1.46;1.46;1.46	5.6	5.6	0.85130	Replication factor Mcm10 (1);	0.296053	0.34750	N	0.003718	T	0.49184	0.1542	M	0.74258	2.255	0.45852	D	0.998717	D;P;P	0.71674	0.998;0.913;0.929	D;P;P	0.71184	0.972;0.46;0.596	T	0.48019	-0.9071	10	0.13108	T	0.6	-14.8756	10.4367	0.44439	0.0:0.0726:0.0:0.9274	.	650;650;651	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	R	650;651;651;650	ENSP00000367986:L650R;ENSP00000418268:L651R;ENSP00000367966:L650R	ENSP00000354945:L651R	L	+	2	0	MCM10	13277250	0.993000	0.37304	0.998000	0.56505	0.950000	0.60333	2.906000	0.48735	2.251000	0.74343	0.528000	0.53228	CTG	MCM10	-	pfam_Rep_factor_Mcm10	ENSG00000065328		0.498	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	35	0.00	0	T	NM_182751		13237244	13237244	+1	no_errors	ENST00000361282	ensembl	human	known	69_37n	missense	25	53.70	29	SNP	1.000	G
MID1	4281	genome.wustl.edu	37	X	10535323	10535323	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chrX:10535323C>T	ENST00000317552.4	-	2	665	c.265G>A	c.(265-267)Gca>Aca	p.A89T	MID1_ENST00000380779.1_Missense_Mutation_p.A89T|MID1_ENST00000380780.1_Missense_Mutation_p.A89T|MID1_ENST00000453318.2_Missense_Mutation_p.A89T|MID1_ENST00000380782.2_Missense_Mutation_p.A89T|MID1_ENST00000380785.1_Missense_Mutation_p.A89T|MID1_ENST00000380787.1_Missense_Mutation_p.A89T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	89					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTCACTGATGCTTTCTGGAAC	0.617																																						dbGAP											0													128.0	103.0	112.0					X																	10535323		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.265G>A	X.37:g.10535323C>T	ENSP00000312678:p.Ala89Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A89T	ENST00000317552.4	37	c.265	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.164724	0.94727	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894;ENST00000423614	T;T;T;T;T;T;T;T;T	0.55413	0.56;0.56;0.56;0.56;0.56;0.56;1.03;0.99;0.52	5.64	5.64	0.86602	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	L	0.42744	1.35	0.80722	D	1	D;P;D;D;D;P	0.76494	0.974;0.781;0.999;0.963;0.993;0.869	P;P;D;P;D;P	0.77004	0.758;0.453;0.989;0.834;0.949;0.602	T	0.57159	-0.7859	10	0.14656	T	0.56	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	89;89;89;89;89;89	C9JZJ7;B7Z5K6;C9J453;O15344-2;A8K5A0;O15344	.;.;.;.;.;TRI18_HUMAN	T	89	ENSP00000414521:A89T;ENSP00000312678:A89T;ENSP00000370162:A89T;ENSP00000370156:A89T;ENSP00000370164:A89T;ENSP00000370157:A89T;ENSP00000370159:A89T;ENSP00000391154:A89T;ENSP00000387771:A89T	ENSP00000312678:A89T	A	-	1	0	MID1	10495323	1.000000	0.71417	0.982000	0.44146	0.970000	0.65996	7.663000	0.83820	2.386000	0.81285	0.600000	0.82982	GCA	MID1	-	NULL	ENSG00000101871		0.617	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	150	0.00	0	C			10535323	10535323	-1	no_errors	ENST00000317552	ensembl	human	known	69_37n	missense	150	13.79	24	SNP	1.000	T
MYH10	4628	genome.wustl.edu	37	17	8396259	8396259	+	Silent	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr17:8396259G>A	ENST00000269243.4	-	31	4338	c.4200C>T	c.(4198-4200)gaC>gaT	p.D1400D	MYH10_ENST00000360416.3_Silent_p.D1431D|MYH10_ENST00000396239.1_Silent_p.D1421D|MYH10_ENST00000379980.4_Silent_p.D1416D	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1400					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D1400D(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGGCCTCCGCGTCCTTCAGAA	0.542																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											82.0	81.0	81.0					17																	8396259		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4200C>T	17.37:g.8396259G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1421	ENST00000269243.4	37	c.4263	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_tail	ENSG00000133026		0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	103	0.00	0	G			8396259	8396259	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	silent	42	36.36	24	SNP	0.988	A
MYO3A	53904	genome.wustl.edu	37	10	26462784	26462784	+	Silent	SNP	G	G	A	rs548728807	byFrequency	TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:26462784G>A	ENST00000265944.5	+	30	3757	c.3591G>A	c.(3589-3591)gaG>gaA	p.E1197E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1197					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATGTGTATGAGGAAGAGGTTA	0.418													G|||	2	0.000399361	0.0	0.0	5008	,	,		19964	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													82.0	81.0	82.0					10																	26462784		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3591G>A	10.37:g.26462784G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.E1197	ENST00000265944.5	37	c.3591	CCDS7148.1	10																																																																																			MYO3A	-	NULL	ENSG00000095777		0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	179	0.00	0	G	NM_017433		26462784	26462784	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	silent	240	12.36	34	SNP	0.000	A
MYO5B	4645	genome.wustl.edu	37	18	47500828	47500828	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr18:47500828G>A	ENST00000285039.7	-	10	1513	c.1214C>T	c.(1213-1215)gCg>gTg	p.A405V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	405	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GATGTGCTTCGCCAGGGCGTT	0.587																																						dbGAP											0													148.0	157.0	154.0					18																	47500828		2178	4274	6452	-	-	-	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1214C>T	18.37:g.47500828G>A	ENSP00000285039:p.Ala405Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A405V	ENST00000285039.7	37	c.1214	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.452491	0.96223	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.89746	-2.56	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94291	0.8166	M	0.85099	2.735	0.80722	D	1	P;D	0.58268	0.949;0.982	P;P	0.57720	0.826;0.707	D	0.94663	0.7850	10	0.72032	D	0.01	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	404;405	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	V	405;404	ENSP00000285039:A405V	ENSP00000285039:A405V	A	-	2	0	MYO5B	45754826	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.751000	0.98889	2.735000	0.93741	0.655000	0.94253	GCG	MYO5B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000167306		0.587	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	252	0.00	0	G			47500828	47500828	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	226	27.01	84	SNP	1.000	A
NBPF9	400818	genome.wustl.edu	37	1	144823901	144823901	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr1:144823901G>C	ENST00000281815.8	+	9	969	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	NBPF9_ENST00000440491.2_Missense_Mutation_p.E390Q|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000468645.1_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	723						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						AGGTTGTCTTGAACTGACTGA	0.488																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.223G>C	1.37:g.144823901G>C	ENSP00000281815:p.Glu75Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NBPF_dom	p.E75Q	ENST00000281815.8	37	c.223		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.14|11.14	1.551287|1.551287	0.27739|0.27739	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491;ENST00000281815|ENST00000375552	T;T|T	0.08634|0.07114	3.07;3.07|3.22	0.431|0.431	0.431|0.431	0.16523|0.16523	.|.	.|.	.|.	.|.	.|.	T|T	0.00967|0.00967	0.0032|0.0032	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|.	0.67145|.	0.996|.	D|.	0.69824|.	0.966|.	T|T	0.47005|0.47005	-0.9150|-0.9150	7|5	0.62326|0.09338	D|T	0.03|0.73	.|.	.|.	.|.	.|.	.|.	388|.	A2BGT5|.	.|.	Q|F	390;75|388	ENSP00000390934:E390Q;ENSP00000281815:E75Q|ENSP00000364702:L388F	ENSP00000281815:E75Q|ENSP00000364702:L388F	E|L	+|+	1|3	0|2	NBPF9|NBPF9	143535258|143535258	0.002000|0.002000	0.14202|0.14202	0.003000|0.003000	0.11579|0.11579	0.014000|0.014000	0.08584|0.08584	1.202000|1.202000	0.32271|0.32271	0.482000|0.482000	0.27582|0.27582	0.194000|0.194000	0.17425|0.17425	GAA|TTG	NBPF9	-	pfam_NBPF_dom	ENSG00000168614		0.488	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	NBPF9	HGNC	protein_coding		201	0.00	0	G	NM_001037675		144823901	144823901	+1	no_errors	ENST00000281815	ensembl	human	known	69_37n	missense	457	11.95	62	SNP	0.003	C
NCBP1	4686	genome.wustl.edu	37	9	100418351	100418351	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr9:100418351C>G	ENST00000375147.3	+	14	1613	c.1357C>G	c.(1357-1359)Cta>Gta	p.L453V		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	453					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AAGAGAAGTTCTAGAAAAATG	0.343																																					Ovarian(36;879 898 2893 44212 50307)	dbGAP											0													127.0	127.0	127.0					9																	100418351		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1357C>G	9.37:g.100418351C>G	ENSP00000364289:p.Leu453Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.L453V	ENST00000375147.3	37	c.1357	CCDS6728.1	9	.	.	.	.	.	.	.	.	.	.	C	19.06	3.752976	0.69648	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.7	3.85	0.44370	MIF4G-like, type 1 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.64402	D	0.000001	T	0.68357	0.2992	M	0.78285	2.405	0.80722	D	1	D	0.57899	0.981	P	0.60609	0.877	T	0.70085	-0.4969	9	0.59425	D	0.04	-10.2468	5.757	0.18178	0.1483:0.6441:0.0:0.2077	.	453	Q09161	NCBP1_HUMAN	V	453	.	ENSP00000364289:L453V	L	+	1	2	NCBP1	99458172	0.920000	0.31207	1.000000	0.80357	0.998000	0.95712	0.640000	0.24705	1.561000	0.49584	0.655000	0.94253	CTA	NCBP1	-	pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold	ENSG00000136937		0.343	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	142	0.00	0	C	NM_002486		100418351	100418351	+1	no_errors	ENST00000375147	ensembl	human	known	69_37n	missense	189	12.09	26	SNP	0.998	G
NEDD9	4739	genome.wustl.edu	37	6	11191170	11191170	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr6:11191170C>T	ENST00000379446.5	-	5	1098	c.932G>A	c.(931-933)gGc>gAc	p.G311D	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.G311D	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	311					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTTCTGAGAGCCCACTGACTG	0.562																																						dbGAP											0													71.0	74.0	73.0					6																	11191170		2203	4300	6503	-	-	-	SO:0001583	missense	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.932G>A	6.37:g.11191170C>T	ENSP00000368759:p.Gly311Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.G311D	ENST00000379446.5	37	c.932	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	C	2.807	-0.247818	0.05867	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.39406	1.08;1.21	5.94	1.96	0.26148	.	0.865778	0.10496	N	0.667851	T	0.07413	0.0187	N	0.21448	0.665	0.25324	N	0.989098	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.11329	0.006;0.005;0.004	T	0.33317	-0.9873	10	0.12103	T	0.63	-15.4744	1.061	0.01600	0.2353:0.3622:0.2242:0.1782	.	311;311;311	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	D	311	ENSP00000368759:G311D;ENSP00000422871:G311D	ENSP00000368759:G311D	G	-	2	0	NEDD9	11299156	0.043000	0.20138	0.023000	0.16930	0.037000	0.13140	1.457000	0.35212	0.817000	0.34445	0.561000	0.74099	GGC	NEDD9	-	NULL	ENSG00000111859		0.562	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	56	0.00	0	C	NM_006403		11191170	11191170	-1	no_errors	ENST00000379446	ensembl	human	known	69_37n	missense	78	36.07	44	SNP	0.033	T
NLGN4X	57502	genome.wustl.edu	37	X	5821686	5821686	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chrX:5821686C>T	ENST00000381095.3	-	5	1660	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	NLGN4X_ENST00000381092.1_Missense_Mutation_p.D345N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D345N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D345N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D365N	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	345					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ACGTCGCCGTCGATCACCGGC	0.587																																						dbGAP											0													157.0	108.0	125.0					X																	5821686		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1033G>A	X.37:g.5821686C>T	ENSP00000370485:p.Asp345Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.D365N	ENST00000381095.3	37	c.1093	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872584	0.51695	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	D	0.84401	0.5464	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.997	D	0.89462	0.3737	8	.	.	.	.	14.4946	0.67678	0.0:1.0:0.0:0.0	.	402;345;365	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	N	345;365;345;345;345	ENSP00000370485:D345N;ENSP00000370483:D365N;ENSP00000275857:D345N;ENSP00000370482:D345N;ENSP00000439203:D345N	.	D	-	1	0	NLGN4X	5831686	1.000000	0.71417	0.081000	0.20488	0.004000	0.04260	6.722000	0.74735	1.579000	0.49836	0.600000	0.82982	GAC	NLGN4X	-	pfam_CarbesteraseB	ENSG00000146938		0.587	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	93	0.00	0	C	NM_020742		5821686	5821686	-1	no_errors	ENST00000381093	ensembl	human	known	69_37n	missense	50	13.79	8	SNP	1.000	T
NHSL2	340527	genome.wustl.edu	37	X	71360543	71360543	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chrX:71360543G>A	ENST00000373677.1	+	2	3309	c.2047G>A	c.(2047-2049)Ggc>Agc	p.G683S	NHSL2_ENST00000535692.1_Missense_Mutation_p.G683S|NHSL2_ENST00000540800.1_Missense_Mutation_p.G1049S|NHSL2_ENST00000510661.1_Missense_Mutation_p.G818S			Q5HYW2	NHSL2_HUMAN	NHS-like 2	683										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCGCCACCGGCGATGACCT	0.562																																						dbGAP											0													53.0	49.0	50.0					X																	71360543		2203	4300	6503	-	-	-	SO:0001583	missense	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2047G>A	X.37:g.71360543G>A	ENSP00000362781:p.Gly683Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN94	Missense_Mutation	SNP	NULL	p.G1049S	ENST00000373677.1	37	c.3145		X	.	.	.	.	.	.	.	.	.	.	G	5.039	0.192829	0.09599	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.45276	1.56;0.93;0.9;0.93	6.08	-9.76	0.00503	.	1.007180	0.07974	N	0.984427	T	0.12263	0.0298	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.15719	0.001;0.014;0.003	B;B;B	0.08055	0.003;0.003;0.003	T	0.14615	-1.0466	10	0.07030	T	0.85	-0.0168	6.4653	0.21977	0.5785:0.1589:0.1872:0.0754	.	1049;818;683	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	S	1049;683;818;683	ENSP00000444617:G1049S;ENSP00000362781:G683S;ENSP00000424079:G818S;ENSP00000444914:G683S	ENSP00000362781:G683S	G	+	1	0	NHSL2	71277268	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-2.498000	0.00512	-0.905000	0.02835	GGC	NHSL2	-	NULL	ENSG00000204131		0.562	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	91	0.00	0	G	NM_001013627		71360543	71360543	+1	no_errors	ENST00000540800	ensembl	human	known	69_37n	missense	54	33.33	27	SNP	0.000	A
NRXN3	9369	genome.wustl.edu	37	14	79181294	79181294	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr14:79181294G>A	ENST00000554719.1	+	5	1228	c.737G>A	c.(736-738)cGc>cAc	p.R246H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R246H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATTGATGGGCGCAGCAAGAAC	0.577																																						dbGAP											0													69.0	59.0	62.0					14																	79181294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.737G>A	14.37:g.79181294G>A	ENSP00000451648:p.Arg246His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R617H	ENST00000554719.1	37	c.1850	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643477	0.87859	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76709	-1.04;-1.04	5.96	5.96	0.96718	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.120770	0.56097	D	0.000024	D	0.88937	0.6573	.	.	.	0.51767	D	0.999932	D;D	0.89917	1.0;0.989	D;P	0.91635	0.999;0.84	D	0.87643	0.2523	8	.	.	.	.	20.4084	0.99013	0.0:0.0:1.0:0.0	.	619;246	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	619;617;246;246	ENSP00000451648:R246H;ENSP00000338349:R246H	.	R	+	2	0	NRXN3	78251047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.781000	0.75068	2.833000	0.97629	0.650000	0.86243	CGC	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.577	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	83	0.00	0	G	NM_001105250		79181294	79181294	+1	no_errors	ENST00000554738	ensembl	human	known	69_37n	missense	62	35.42	34	SNP	1.000	A
NXPH2	11249	genome.wustl.edu	37	2	139429217	139429217	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr2:139429217C>T	ENST00000272641.3	-	2	176	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	24	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TGCACCACTTCCTTACTGTCA	0.498																																						dbGAP											0													55.0	55.0	55.0					2																	139429217		1940	4133	6073	-	-	-	SO:0001583	missense	0			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.70G>A	2.37:g.139429217C>T	ENSP00000272641:p.Glu24Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	pirsf_Neurexophilin	p.E24K	ENST00000272641.3	37	c.70	CCDS46421.1	2	.	.	.	.	.	.	.	.	.	.	C	0.200	-1.045369	0.01997	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	1.38	0.22167	.	0.588634	0.18251	N	0.146952	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24905	-1.0147	8	.	.	.	-1.1224	7.1069	0.25368	0.0:0.1407:0.5407:0.3186	.	24	O95156	NXPH2_HUMAN	K	24	.	.	E	-	1	0	NXPH2	139145687	0.011000	0.17503	0.060000	0.19600	0.645000	0.38454	1.389000	0.34453	0.291000	0.22468	0.655000	0.94253	GAA	NXPH2	-	pirsf_Neurexophilin	ENSG00000144227		0.498	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH2	HGNC	protein_coding	OTTHUMT00000331901.1	245	0.00	0	C			139429217	139429217	-1	no_errors	ENST00000272641	ensembl	human	known	69_37n	missense	231	12.50	33	SNP	0.004	T
OR4S1	256148	genome.wustl.edu	37	11	48328672	48328672	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr11:48328672T>C	ENST00000319988.1	+	1	898	c.898T>C	c.(898-900)Ttt>Ctt	p.F300L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GAGGAAGCTGTTTAGGGTCAA	0.428																																						dbGAP											0													58.0	55.0	56.0					11																	48328672		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.898T>C	11.37:g.48328672T>C	ENSP00000321447:p.Phe300Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFB4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F300L	ENST00000319988.1	37	c.898	CCDS31488.1	11	.	.	.	.	.	.	.	.	.	.	T	15.89	2.966011	0.53507	.	.	ENSG00000176555	ENST00000319988	T	0.31769	1.48	4.72	4.72	0.59763	.	.	.	.	.	T	0.15003	0.0362	N	0.02275	-0.615	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.16188	-1.0411	9	0.54805	T	0.06	.	12.4308	0.55573	0.0:0.0:0.0:1.0	.	300	Q8NGB4	OR4S1_HUMAN	L	300	ENSP00000321447:F300L	ENSP00000321447:F300L	F	+	1	0	OR4S1	48285248	0.971000	0.33674	0.179000	0.23059	0.176000	0.22953	4.010000	0.57117	1.892000	0.54788	0.533000	0.62120	TTT	OR4S1	-	NULL	ENSG00000176555		0.428	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	HGNC	protein_coding	OTTHUMT00000390556.1	139	0.00	0	T	NM_001004725		48328672	48328672	+1	no_errors	ENST00000319988	ensembl	human	known	69_37n	missense	192	13.12	29	SNP	0.084	C
OR7A10	390892	genome.wustl.edu	37	19	14952057	14952057	+	Silent	SNP	G	G	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr19:14952057G>T	ENST00000248058.1	-	1	632	c.633C>A	c.(631-633)ctC>ctA	p.L211L		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GGATCCCAGTGAGGGGACCAC	0.473																																						dbGAP											0													61.0	57.0	58.0					19																	14952057		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.633C>A	19.37:g.14952057G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFP0|Q96R97	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L211	ENST00000248058.1	37	c.633	CCDS32936.1	19																																																																																			OR7A10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000127515		0.473	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A10	HGNC	protein_coding	OTTHUMT00000466520.1	163	0.00	0	G	NM_001005190		14952057	14952057	-1	no_errors	ENST00000248058	ensembl	human	known	69_37n	silent	201	16.18	39	SNP	0.003	T
P2RY1	5028	genome.wustl.edu	37	3	152554273	152554273	+	Silent	SNP	G	G	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr3:152554273G>C	ENST00000305097.3	+	1	1538	c.702G>C	c.(700-702)ctG>ctC	p.L234L	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	234					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGCTGATTCTGGGCTGTTACG	0.463																																						dbGAP											0													124.0	113.0	117.0					3																	152554273		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.702G>C	3.37:g.152554273G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.L234	ENST00000305097.3	37	c.702	CCDS3169.1	3																																																																																			P2RY1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000169860		0.463	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1	102	0.00	0	G	NM_002563		152554273	152554273	+1	no_errors	ENST00000305097	ensembl	human	known	69_37n	silent	58	17.14	12	SNP	1.000	C
PAPPA	5069	genome.wustl.edu	37	9	119106918	119106918	+	Silent	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr9:119106918C>T	ENST00000328252.3	+	14	4077	c.3708C>T	c.(3706-3708)gcC>gcT	p.A1236A	PAPPA_ENST00000534838.1_Silent_p.A274A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1236	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACCACGGTGCCCAGTGTACTG	0.577																																						dbGAP											0													98.0	84.0	89.0					9																	119106918		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3708C>T	9.37:g.119106918C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.A1236	ENST00000328252.3	37	c.3708	CCDS6813.1	9																																																																																			PAPPA	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000182752		0.577	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	135	0.00	0	C	NM_002581		119106918	119106918	+1	no_errors	ENST00000328252	ensembl	human	known	69_37n	silent	109	27.81	42	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55581735	55581735	+	Silent	SNP	A	A	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:55581735A>T	ENST00000320301.6	-	33	6145	c.5751T>A	c.(5749-5751)acT>acA	p.T1917T	PCDH15_ENST00000395430.1_Silent_p.T1914T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Silent_p.T1894T|PCDH15_ENST00000437009.1_Silent_p.T1848T|PCDH15_ENST00000395432.2_Silent_p.T1877T|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Silent_p.T771T|PCDH15_ENST00000361849.3_Silent_p.T1919T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1917					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGGGCACATAGTTTGAAGTT	0.348										HNSCC(58;0.16)																												dbGAP											0													196.0	177.0	183.0					10																	55581735		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5751T>A	10.37:g.55581735A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T1917	ENST00000320301.6	37	c.5751	CCDS7248.1	10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.348	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	233	0.00	0	A	NM_033056		55581735	55581735	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	silent	124	10.14	14	SNP	0.000	T
PCSK7	9159	genome.wustl.edu	37	11	117098039	117098039	+	Splice_Site	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr11:117098039C>T	ENST00000320934.3	-	5	1234		c.e5-1			NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7						peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCTCAGGGCTCTGAAATATTT	0.537			T	IGH@	MLCLS																																	dbGAP		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													77.0	82.0	81.0					11																	117098039		2201	4296	6497	-	-	-	SO:0001630	splice_region_variant	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.604-1G>A	11.37:g.117098039C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Splice_Site	SNP	-	e3-1	ENST00000320934.3	37	c.604-1	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632424	0.29068	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	.	.	.	5.61	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5909	0.76526	0.0:0.8618:0.1382:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK7	116603249	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	7.566000	0.82347	1.345000	0.45676	-0.175000	0.13238	.	PCSK7	-	-	ENSG00000160613		0.537	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	55	0.00	0	C	NM_004716	Intron	117098039	117098039	-1	no_errors	ENST00000320934	ensembl	human	known	69_37n	splice_site	45	10.00	5	SNP	1.000	T
PDCD6IP	10015	genome.wustl.edu	37	3	33887008	33887008	+	Missense_Mutation	SNP	G	G	C	rs112754416	byFrequency	TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr3:33887008G>C	ENST00000307296.3	+	12	1946	c.1569G>C	c.(1567-1569)ttG>ttC	p.L523F	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.L528F			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	523	Interaction with EIAV p9.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCGTGCTTTTGTGTAAGCCAG	0.473																																						dbGAP											0													120.0	97.0	105.0					3																	33887008		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1569G>C	3.37:g.33887008G>C	ENSP00000307387:p.Leu523Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.L528F	ENST00000307296.3	37	c.1584	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990361	0.74589	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.54479	0.57;0.57	5.35	-3.45	0.04781	.	0.065124	0.64402	D	0.000006	T	0.68504	0.3008	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.988;0.993	T	0.71027	-0.4711	10	0.51188	T	0.08	-10.7172	11.2703	0.49136	0.0623:0.6149:0.2238:0.099	.	304;528;523	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	F	523;528	ENSP00000307387:L523F;ENSP00000411825:L528F	ENSP00000307387:L523F	L	+	3	2	PDCD6IP	33862012	0.335000	0.24748	0.980000	0.43619	0.976000	0.68499	-0.332000	0.07904	-0.272000	0.09259	0.557000	0.71058	TTG	PDCD6IP	-	NULL	ENSG00000170248		0.473	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	121	0.00	0	G			33887008	33887008	+1	no_errors	ENST00000457054	ensembl	human	known	69_37n	missense	157	18.13	35	SNP	0.975	C
PLCH1	23007	genome.wustl.edu	37	3	155199955	155199955	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr3:155199955G>C	ENST00000340059.7	-	23	3883	c.3884C>G	c.(3883-3885)gCc>gGc	p.A1295G	PLCH1_ENST00000460012.1_Missense_Mutation_p.A1257G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.A1257G|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.A1257G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1295					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGCTGTCTTGGCCTTACTAGA	0.473																																						dbGAP											0													182.0	182.0	182.0					3																	155199955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3884C>G	3.37:g.155199955G>C	ENSP00000345988:p.Ala1295Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.A1295G	ENST00000340059.7	37	c.3884	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	5.818	0.335258	0.11013	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.18	2.15	0.27550	.	3.498200	0.00397	N	0.000057	T	0.18087	0.0434	L	0.27053	0.805	0.26280	N	0.978281	B;B	0.23249	0.082;0.049	B;B	0.28011	0.085;0.039	T	0.23655	-1.0182	10	0.26408	T	0.33	.	6.8733	0.24133	0.0868:0.0:0.4206:0.4926	.	1257;1295	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	G	1257;1295;1257;1257	ENSP00000417502:A1257G;ENSP00000345988:A1295G;ENSP00000335469:A1257G;ENSP00000412977:A1257G	ENSP00000335469:A1257G	A	-	2	0	PLCH1	156682649	0.084000	0.21492	0.276000	0.24689	0.441000	0.31987	1.532000	0.36029	0.536000	0.28733	0.460000	0.39030	GCC	PLCH1	-	NULL	ENSG00000114805		0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	159	0.00	0	G	NM_014996		155199955	155199955	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	missense	186	23.46	57	SNP	0.865	C
PM20D2	135293	genome.wustl.edu	37	6	89871591	89871591	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr6:89871591C>G	ENST00000275072.4	+	6	1233	c.1138C>G	c.(1138-1140)Cag>Gag	p.Q380E		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	380						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TCATACTGAACAGTACACTGA	0.398																																						dbGAP											0													188.0	168.0	175.0					6																	89871591		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.1138C>G	6.37:g.89871591C>G	ENSP00000275072:p.Gln380Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred	p.Q380E	ENST00000275072.4	37	c.1138	CCDS34499.1	6	.	.	.	.	.	.	.	.	.	.	C	0.167	-1.075387	0.01903	.	.	ENSG00000146281	ENST00000275072	T	0.40476	1.03	5.61	1.39	0.22231	.	0.301596	0.36409	N	0.002618	T	0.06005	0.0156	N	0.02751	-0.505	0.31122	N	0.708752	B	0.02656	0.0	B	0.06405	0.002	T	0.42548	-0.9445	10	0.02654	T	1	-6.3076	17.9027	0.88909	0.0:0.3838:0.6162:0.0	.	380	Q8IYS1	P20D2_HUMAN	E	380	ENSP00000275072:Q380E	ENSP00000275072:Q380E	Q	+	1	0	PM20D2	89928310	1.000000	0.71417	0.151000	0.22473	0.725000	0.41563	0.977000	0.29475	0.255000	0.21593	0.555000	0.69702	CAG	PM20D2	-	pirsf_Pept_M20D_amidohydro_pred	ENSG00000146281		0.398	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D2	HGNC	protein_coding	OTTHUMT00000041477.1	142	0.00	0	C	NM_001010853		89871591	89871591	+1	no_errors	ENST00000275072	ensembl	human	known	69_37n	missense	175	12.06	24	SNP	0.970	G
PRF1	5551	genome.wustl.edu	37	10	72358847	72358847	+	Frame_Shift_Del	DEL	G	G	-	rs144004164	byFrequency	TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr10:72358847delG	ENST00000441259.1	-	3	790	c.630delC	c.(628-630)cccfs	p.P210fs	PRF1_ENST00000373209.2_Frame_Shift_Del_p.P210fs	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	210	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.P210P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGAGGTAGGCGGGCTGGGTGG	0.647			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													dbGAP	yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	1	Substitution - coding silent(1)	prostate(1)											35.0	41.0	39.0					10																	72358847		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.630delC	10.37:g.72358847delG	ENSP00000398568:p.Pro210fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6X4|Q59F57|Q86WX7	Frame_Shift_Del	DEL	pfam_MACPF,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_MACPF,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.A211fs	ENST00000441259.1	37	c.630	CCDS7305.1	10																																																																																			PRF1	-	pfam_MACPF,smart_MACPF	ENSG00000180644		0.647	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2	20	0.00	0	G	NM_005041		72358847	72358847	-1	no_errors	ENST00000318971	ensembl	human	known	69_37n	frame_shift_del	11	62.07	18	DEL	0.000	-
PSG3	5671	genome.wustl.edu	37	19	43242928	43242928	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr19:43242928C>A	ENST00000327495.5	-	2	562	c.378G>T	c.(376-378)aaG>aaT	p.K126N	PSG3_ENST00000595140.1_Missense_Mutation_p.K126N|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	126	Ig-like V-type.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATCACCTCGCTTTACGATGT	0.507																																						dbGAP											0													386.0	340.0	356.0					19																	43242928		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.378G>T	19.37:g.43242928C>A	ENSP00000332215:p.Lys126Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K126N	ENST00000327495.5	37	c.378	CCDS12611.1	19	.	.	.	.	.	.	.	.	.	.	N	8.570	0.879754	0.17467	.	.	ENSG00000221826	ENST00000327495	T	0.01092	5.35	1.2	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01421	0.0046	L	0.50333	1.59	0.09310	N	1	B;B	0.22146	0.065;0.013	B;B	0.32624	0.149;0.103	T	0.47509	-0.9112	9	0.49607	T	0.09	.	1.7227	0.02915	0.3274:0.4223:0.0:0.2503	.	104;126	Q08266;Q16557	.;PSG3_HUMAN	N	126	ENSP00000332215:K126N	ENSP00000332215:K126N	K	-	3	2	PSG3	47934768	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.923000	0.00692	-0.437000	0.07243	0.393000	0.25936	AAG	PSG3	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000221826		0.507	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PSG3	HGNC	protein_coding	OTTHUMT00000321423.2	1239	0.08	1	C	NM_021016		43242928	43242928	-1	no_errors	ENST00000327495	ensembl	human	known	69_37n	missense	2042	12.01	279	SNP	0.000	A
RAB25	57111	genome.wustl.edu	37	1	156038184	156038184	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr1:156038184G>A	ENST00000361084.5	+	3	604	c.363G>A	c.(361-363)atG>atA	p.M121I	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	121					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCGTCGTCATGCTCGTGGGTA	0.587																																						dbGAP											0													91.0	98.0	96.0					1																	156038184		2170	4272	6442	-	-	-	SO:0001583	missense	0			AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.363G>A	1.37:g.156038184G>A	ENSP00000354376:p.Met121Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M121I	ENST00000361084.5	37	c.363	CCDS41413.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.165298	0.94768	.	.	ENSG00000132698	ENST00000361084	T	0.76186	-1.0	5.3	5.3	0.74995	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	N	0.05534	-0.03	0.80722	D	1	D	0.59357	0.985	D	0.74348	0.983	T	0.76323	-0.3001	10	0.54805	T	0.06	.	17.6955	0.88281	0.0:0.0:1.0:0.0	.	121	P57735	RAB25_HUMAN	I	121	ENSP00000354376:M121I	ENSP00000354376:M121I	M	+	3	0	RAB25	154304808	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.525000	0.98039	2.757000	0.94681	0.655000	0.94253	ATG	RAB25	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000132698		0.587	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB25	HGNC	protein_coding	OTTHUMT00000046185.1	97	0.00	0	G			156038184	156038184	+1	no_errors	ENST00000361084	ensembl	human	known	69_37n	missense	143	13.86	23	SNP	1.000	A
ROPN1B	152015	genome.wustl.edu	37	3	125690996	125690996	+	Silent	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr3:125690996C>T	ENST00000514116.1	+	3	414	c.99C>T	c.(97-99)ctC>ctT	p.L33L	ROPN1B_ENST00000511862.1_3'UTR|ROPN1B_ENST00000251776.4_Silent_p.L33L|ROPN1B_ENST00000504401.1_Silent_p.L33L			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	33	RIIa.				acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		CGCAGGACCTCATCCAGTGGG	0.602																																						dbGAP											0													44.0	47.0	46.0					3																	125690996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.99C>T	3.37:g.125690996C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNA6|Q96BM7	Silent	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.L33	ENST00000514116.1	37	c.99	CCDS33841.1	3																																																																																			ROPN1B	-	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	ENSG00000114547		0.602	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1B	HGNC	protein_coding	OTTHUMT00000369931.1	61	0.00	0	C	NM_001012337		125690996	125690996	+1	no_errors	ENST00000251776	ensembl	human	known	69_37n	silent	68	10.53	8	SNP	0.989	T
ROPN1B	152015	genome.wustl.edu	37	3	125694476	125694476	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr3:125694476A>T	ENST00000514116.1	+	4	502	c.187A>T	c.(187-189)Aac>Tac	p.N63Y	ROPN1B_ENST00000251776.4_Missense_Mutation_p.N63Y|ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000511082.1_5'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	63					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		CGCTTTGTGTAACTGGGCAGA	0.527																																						dbGAP											0													119.0	106.0	110.0					3																	125694476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.187A>T	3.37:g.125694476A>T	ENSP00000426271:p.Asn63Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNA6|Q96BM7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.N63Y	ENST00000514116.1	37	c.187	CCDS33841.1	3	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416719	0.25552	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000513830;ENST00000508088	T;T;T;T	0.46063	2.03;2.03;1.46;0.88	2.76	2.76	0.32466	.	0.128806	0.51477	D	0.000087	T	0.44953	0.1318	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.40534	-0.9558	10	0.59425	D	0.04	-7.9031	7.6393	0.28284	1.0:0.0:0.0:0.0	.	63;63	B7Z7H1;Q9BZX4	.;ROP1B_HUMAN	Y	63	ENSP00000426271:N63Y;ENSP00000251776:N63Y;ENSP00000425548:N63Y;ENSP00000423058:N63Y	ENSP00000251776:N63Y	N	+	1	0	ROPN1B	127177166	1.000000	0.71417	0.989000	0.46669	0.041000	0.13682	5.274000	0.65569	1.207000	0.43291	0.240000	0.17902	AAC	ROPN1B	-	NULL	ENSG00000114547		0.527	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1B	HGNC	protein_coding	OTTHUMT00000369931.1	110	0.00	0	A	NM_001012337		125694476	125694476	+1	no_errors	ENST00000251776	ensembl	human	known	69_37n	missense	106	11.67	14	SNP	0.995	T
SLC17A5	26503	genome.wustl.edu	37	6	74331662	74331662	+	Silent	SNP	C	C	T	rs567868125		TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr6:74331662C>T	ENST00000355773.5	-	7	1111	c.843G>A	c.(841-843)ccG>ccA	p.P281P	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	281					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGGTACCCACGGCACTGACT	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15194	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													70.0	68.0	69.0					6																	74331662		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.843G>A	6.37:g.74331662C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P281	ENST00000355773.5	37	c.843	CCDS4981.1	6																																																																																			SLC17A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119899		0.378	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A5	HGNC	protein_coding	OTTHUMT00000041228.1	77	0.00	0	C			74331662	74331662	-1	no_errors	ENST00000355773	ensembl	human	known	69_37n	silent	108	11.48	14	SNP	0.210	T
SMARCA5	8467	genome.wustl.edu	37	4	144460080	144460080	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr4:144460080C>A	ENST00000283131.3	+	13	2221	c.1759C>A	c.(1759-1761)Ctt>Att	p.L587I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	587	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CCAAGTAGATCTTCAGGCTAT	0.393																																						dbGAP											0													150.0	148.0	149.0					4																	144460080		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1759C>A	4.37:g.144460080C>A	ENSP00000283131:p.Leu587Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L587I	ENST00000283131.3	37	c.1759	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.228192	0.95173	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	T	0.72282	-0.64	5.85	5.85	0.93711	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80287	0.4595	L	0.46670	1.46	0.80722	D	1	P	0.41080	0.737	P	0.57057	0.812	T	0.79892	-0.1611	10	0.87932	D	0	0.2376	20.1766	0.98178	0.0:1.0:0.0:0.0	.	587	O60264	SMCA5_HUMAN	I	587;530;530	ENSP00000283131:L587I	ENSP00000283131:L587I	L	+	1	0	SMARCA5	144679530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.993000	0.70616	2.772000	0.95346	0.655000	0.94253	CTT	SMARCA5	-	pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,smart_Helicase_C,pfscan_Helicase_C	ENSG00000153147		0.393	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	250	0.40	1	C			144460080	144460080	+1	no_errors	ENST00000283131	ensembl	human	known	69_37n	missense	359	12.65	52	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16258804	16258804	+	Silent	SNP	G	G	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr1:16258804G>C	ENST00000375759.3	+	11	6273	c.6069G>C	c.(6067-6069)gtG>gtC	p.V2023V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2023					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAATAGGCGTGAAAGAGAGCT	0.547																																						dbGAP											0													41.0	40.0	41.0					1																	16258804		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6069G>C	1.37:g.16258804G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V2023	ENST00000375759.3	37	c.6069	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.547	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	130	0.00	0	G	NM_015001		16258804	16258804	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	silent	177	11.50	23	SNP	0.013	C
SPRY3	10251	genome.wustl.edu	37	X	155004151	155004151	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chrX:155004151T>A	ENST00000302805.2	+	2	1049	c.618T>A	c.(616-618)tgT>tgA	p.C206*		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	206	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAGACAACTGTGCTGATGAGC	0.562																																						dbGAP											0													263.0	234.0	244.0					X																	155004151		2203	4296	6499	-	-	-	SO:0001587	stop_gained	0			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.618T>A	X.37:g.155004151T>A	ENSP00000302978:p.Cys206*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H8	Nonsense_Mutation	SNP	pfam_Sprouty	p.C206*	ENST00000302805.2	37	c.618	CCDS14769.4	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	6.421432|6.421432	0.97555|0.97555	.|.	.|.	ENSG00000168939|ENSG00000168939	ENST00000302805|ENST00000369437	.|.	.|.	.|.	2.94|2.94	1.06|1.06	0.20224|0.20224	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.58481	.|0.2125	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58064	.|-0.7702	.|5	0.02654|0.87932	T|D	1|0	-15.7379|-15.7379	4.4202|4.4202	0.11477|0.11477	0.0:0.4772:0.0:0.5228|0.0:0.4772:0.0:0.5228	.|.	.|.	.|.	.|.	X|E	206|107	.|.	ENSP00000302978:C206X|ENSP00000358445:V107E	C|V	+|+	3|2	2|0	SPRY3|SPRY3	154657345|154657345	0.867000|0.867000	0.29959|0.29959	0.999000|0.999000	0.59377|0.59377	0.873000|0.873000	0.50193|0.50193	-0.064000|-0.064000	0.11636|0.11636	0.432000|0.432000	0.26286|0.26286	0.231000|0.231000	0.17811|0.17811	TGT|GTG	SPRY3	-	pfam_Sprouty	ENSG00000168939		0.562	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	HGNC	protein_coding	OTTHUMT00000058823.2	407	0.00	0	T	NM_005840		155004151	155004151	+1	no_errors	ENST00000302805	ensembl	human	known	69_37n	nonsense	329	19.90	82	SNP	0.998	A
STX19	415117	genome.wustl.edu	37	3	93733777	93733777	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr3:93733777C>G	ENST00000315099.2	-	2	593	c.337G>C	c.(337-339)Gtt>Ctt	p.V113L	ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	113					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						ACTTCTTTAACTAAATCATTC	0.368																																						dbGAP											0													147.0	151.0	150.0					3																	93733777		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.337G>C	3.37:g.93733777C>G	ENSP00000320679:p.Val113Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.V113L	ENST00000315099.2	37	c.337	CCDS33793.1	3	.	.	.	.	.	.	.	.	.	.	C	9.409	1.080055	0.20309	.	.	ENSG00000178750	ENST00000315099	T	0.16897	2.31	4.43	-0.211	0.13172	t-SNARE (1);Syntaxin, N-terminal (1);	0.440966	0.24150	N	0.041089	T	0.06872	0.0175	N	0.08118	0	0.22719	N	0.998819	B	0.02656	0.0	B	0.06405	0.002	T	0.24190	-1.0167	10	0.56958	D	0.05	-0.475	4.8025	0.13303	0.2477:0.4433:0.0:0.309	.	113	Q8N4C7	STX19_HUMAN	L	113	ENSP00000320679:V113L	ENSP00000320679:V113L	V	-	1	0	STX19	95216467	0.003000	0.15002	0.966000	0.40874	0.982000	0.71751	0.365000	0.20348	0.132000	0.18615	-0.145000	0.13849	GTT	STX19	-	pfam_Syntaxin_N,superfamily_t-SNARE	ENSG00000178750		0.368	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX19	HGNC	protein_coding	OTTHUMT00000352909.1	303	0.33	1	C	NM_001001850		93733777	93733777	-1	no_errors	ENST00000315099	ensembl	human	known	69_37n	missense	479	13.95	78	SNP	0.841	G
SUN2	25777	genome.wustl.edu	37	22	39141808	39141809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr22:39141808_39141809insG	ENST00000405510.1	-	9	1051_1052	c.693_694insC	c.(691-696)tggtatfs	p.Y232fs	SUN2_ENST00000411587.2_Frame_Shift_Ins_p.Y221fs|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000216064.4_Frame_Shift_Ins_p.Y232fs|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000406622.1_Frame_Shift_Ins_p.Y232fs|SUN2_ENST00000405018.1_Frame_Shift_Ins_p.Y253fs	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	232					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGGTAGAAATACCAAGCACCTG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.693_694insC	22.37:g.39141808_39141809insG	ENSP00000385740:p.Tyr232fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Frame_Shift_Ins	INS	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.Y231fs	ENST00000405510.1	37	c.694_693	CCDS13978.1	22																																																																																			SUN2	-	NULL	ENSG00000100242		0.619	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	18	0.00	0	-	XM_039332		39141808	39141809	-1	no_errors	ENST00000216064	ensembl	human	known	69_37n	frame_shift_ins	13	31.58	6	INS	1.000:1.000	G
SVEP1	79987	genome.wustl.edu	37	9	113245928	113245928	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr9:113245928A>G	ENST00000401783.2	-	10	2312	c.1976T>C	c.(1975-1977)gTc>gCc	p.V659A	SVEP1_ENST00000374469.1_Missense_Mutation_p.V636A|SVEP1_ENST00000374461.1_Missense_Mutation_p.V636A|SVEP1_ENST00000302728.8_Missense_Mutation_p.V659A|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	659	HYR 2. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGAGACCTGGACGGGAGGTGG	0.488																																						dbGAP											0													67.0	66.0	66.0					9																	113245928		1992	4175	6167	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1976T>C	9.37:g.113245928A>G	ENSP00000384917:p.Val659Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.V659A	ENST00000401783.2	37	c.1976	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170445	0.57584	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.42	5.42	0.78866	Hyalin (2);	0.624751	0.17349	N	0.177447	T	0.37679	0.1012	M	0.63428	1.95	0.22531	N	0.999012	B;B;B	0.23735	0.027;0.09;0.073	B;B;B	0.31442	0.055;0.13;0.053	T	0.27673	-1.0067	10	0.42905	T	0.14	.	15.7552	0.78018	1.0:0.0:0.0:0.0	.	659;659;659	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	A	659;636;659;636	ENSP00000384917:V659A;ENSP00000363593:V636A;ENSP00000304118:V659A;ENSP00000363585:V636A	ENSP00000304118:V659A	V	-	2	0	SVEP1	112285749	1.000000	0.71417	0.880000	0.34516	0.739000	0.42172	5.726000	0.68515	2.195000	0.70347	0.482000	0.46254	GTC	SVEP1	-	pfam_Hyalin,pfscan_Hyalin	ENSG00000165124		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		35	0.00	0	A			113245928	113245928	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	0.986	G
TBC1D5	9779	genome.wustl.edu	37	3	17202622	17202622	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr3:17202622G>T	ENST00000253692.7	-	22	3885	c.2221C>A	c.(2221-2223)Ctc>Atc	p.L741I	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L741I|TBC1D5_ENST00000446818.2_Missense_Mutation_p.L763I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	741						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GTGCTTCTGAGGGTGCGAAGA	0.587																																						dbGAP											0													48.0	53.0	51.0					3																	17202622		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2221C>A	3.37:g.17202622G>T	ENSP00000253692:p.Leu741Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L741I	ENST00000253692.7	37	c.2221	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312789	0.23908	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818	T;T;T	0.31247	1.5;1.5;1.5	5.63	5.63	0.86233	.	0.720264	0.13580	N	0.377396	T	0.20414	0.0491	N	0.24115	0.695	0.54753	D	0.999989	B;B;B	0.29212	0.0;0.237;0.237	B;B;B	0.21151	0.001;0.033;0.033	T	0.06373	-1.0830	10	0.22109	T	0.4	-13.5363	12.5409	0.56169	0.119:0.0:0.881:0.0	.	763;741;741	C9JP52;B9A6K1;Q92609	.;.;TBCD5_HUMAN	I	741;741;763	ENSP00000253692:L741I;ENSP00000398127:L741I;ENSP00000402935:L763I	ENSP00000253692:L741I	L	-	1	0	TBC1D5	17177626	0.964000	0.33143	1.000000	0.80357	0.778000	0.44026	1.218000	0.32467	2.654000	0.90174	0.561000	0.74099	CTC	TBC1D5	-	NULL	ENSG00000131374		0.587	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	36	0.00	0	G	NM_014744		17202622	17202622	-1	no_errors	ENST00000253692	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	0.811	T
TFPI	7035	genome.wustl.edu	37	2	188331770	188331770	+	Splice_Site	SNP	C	C	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr2:188331770C>G	ENST00000233156.3	-	8	1103		c.e8-1		TFPI_ENST00000392365.1_Splice_Site|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TGGATGAAACCTATAAGAGGA	0.249																																						dbGAP											0													25.0	28.0	27.0					2																	188331770		2123	4194	6317	-	-	-	SO:0001630	splice_region_variant	0				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.809-1G>C	2.37:g.188331770C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95103|Q53TS4	Splice_Site	SNP	-	e7-1	ENST00000233156.3	37	c.809-1	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	C	9.648	1.140763	0.21205	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9429	0.64066	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFPI	188040015	1.000000	0.71417	0.736000	0.30914	0.206000	0.24218	1.919000	0.40015	2.416000	0.81992	0.655000	0.94253	.	TFPI	-	-	ENSG00000003436		0.249	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	HGNC	protein_coding	OTTHUMT00000255881.1	145	0.00	0	C	NM_006287	Intron	188331770	188331770	-1	no_errors	ENST00000233156	ensembl	human	known	69_37n	splice_site	116	18.31	26	SNP	0.993	G
TGM6	343641	genome.wustl.edu	37	20	2384311	2384311	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr20:2384311C>T	ENST00000202625.2	+	9	1239	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	TGM6_ENST00000381423.1_Missense_Mutation_p.A393V	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	393					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTCGTGTTTGCGGAGGTCAAC	0.617																																						dbGAP											0													109.0	88.0	95.0					20																	2384311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1178C>T	20.37:g.2384311C>T	ENSP00000202625:p.Ala393Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A393V	ENST00000202625.2	37	c.1178	CCDS13025.1	20	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768599	0.90020	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.82526	-1.62;-1.62	4.9	4.9	0.64082	.	0.051788	0.85682	D	0.000000	D	0.88250	0.6386	M	0.88704	2.975	0.45150	D	0.998167	P;P	0.50819	0.937;0.939	P;B	0.47402	0.546;0.303	D	0.90821	0.4709	10	0.87932	D	0	-25.6296	16.0187	0.80464	0.0:1.0:0.0:0.0	.	393;393	O95932-2;O95932	.;TGM3L_HUMAN	V	393	ENSP00000202625:A393V;ENSP00000370831:A393V	ENSP00000202625:A393V	A	+	2	0	TGM6	2332311	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.455000	0.80726	2.735000	0.93741	0.549000	0.68633	GCG	TGM6	-	NULL	ENSG00000166948		0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	44	0.00	0	C	NM_198994		2384311	2384311	+1	no_errors	ENST00000202625	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	1.000	T
TMEM106B	54664	genome.wustl.edu	37	7	12269421	12269421	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr7:12269421T>G	ENST00000396667.3	+	6	880	c.558T>G	c.(556-558)atT>atG	p.I186M	TMEM106B_ENST00000396668.3_Missense_Mutation_p.I186M	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	186					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACATAACCATTATTGGTCCAC	0.318																																						dbGAP											0													69.0	69.0	69.0					7																	12269421		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.558T>G	7.37:g.12269421T>G	ENSP00000379901:p.Ile186Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.I186M	ENST00000396667.3	37	c.558	CCDS5358.1	7	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638713	0.29157	.	.	ENSG00000106460	ENST00000396668;ENST00000396667	T;T	0.21734	1.99;1.99	5.36	1.73	0.24493	.	0.657788	0.16727	N	0.202008	T	0.07999	0.0200	N	0.04508	-0.205	0.09310	N	0.999995	B	0.29766	0.256	B	0.28553	0.091	T	0.27739	-1.0065	10	0.34782	T	0.22	.	4.6121	0.12408	0.1523:0.391:0.0:0.4567	.	186	Q9NUM4	T106B_HUMAN	M	186	ENSP00000379902:I186M;ENSP00000379901:I186M	ENSP00000379901:I186M	I	+	3	3	TMEM106B	12235946	0.000000	0.05858	0.935000	0.37517	0.957000	0.61999	-0.387000	0.07361	0.125000	0.18397	0.533000	0.62120	ATT	TMEM106B	-	pfam_DUF1356_TMEM106	ENSG00000106460		0.318	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106B	HGNC	protein_coding	OTTHUMT00000246870.3	153	0.00	0	T	NM_018374		12269421	12269421	+1	no_errors	ENST00000396667	ensembl	human	known	69_37n	missense	145	11.04	18	SNP	0.328	G
TNFRSF9	3604	genome.wustl.edu	37	1	7995128	7995128	+	Silent	SNP	G	G	A			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr1:7995128G>A	ENST00000377507.3	-	6	655	c.489C>T	c.(487-489)gcC>gcT	p.A163A		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	163					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGAGGTCGGCTGGAGATG	0.527																																						dbGAP											0													94.0	79.0	84.0					1																	7995128		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.489C>T	1.37:g.7995128G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9,pfscan_TNFR/NGFR_Cys_rich_reg	p.A163	ENST00000377507.3	37	c.489	CCDS92.1	1																																																																																			TNFRSF9	-	NULL	ENSG00000049249		0.527	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF9	HGNC	protein_coding	OTTHUMT00000003622.1	36	0.00	0	G			7995128	7995128	-1	no_errors	ENST00000377507	ensembl	human	known	69_37n	silent	74	15.91	14	SNP	0.000	A
TP53	7157	genome.wustl.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)											47.0	47.0	47.0					17																	7578394		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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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.H179R	ENST00000269305.4	37	c.536	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	58	0.00	0	T	NM_000546		7578394	7578394	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	26	65.79	50	SNP	1.000	C
TNRC6C	57690	genome.wustl.edu	37	17	76045634	76045634	+	Missense_Mutation	SNP	C	C	T	rs549370238		TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr17:76045634C>T	ENST00000588061.1	+	5	1218	c.491C>T	c.(490-492)aCg>aTg	p.T164M	TNRC6C_ENST00000588847.1_Missense_Mutation_p.T164M|TNRC6C_ENST00000335749.4_Missense_Mutation_p.T164M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T164M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T164M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T164M			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	164	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAACCACAAACGTCCACTTCT	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22334	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													120.0	121.0	121.0					17																	76045634		2046	4187	6233	-	-	-	SO:0001583	missense	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.491C>T	17.37:g.76045634C>T	ENSP00000468647:p.Thr164Met	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.T164M	ENST00000588061.1	37	c.491	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213746	0.58452	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.36	5.36	0.76844	.	0.204988	0.52532	D	0.000074	T	0.29588	0.0738	L	0.44542	1.39	0.47009	D	0.999288	D;D;D	0.89917	0.997;1.0;0.996	P;P;P	0.62014	0.804;0.897;0.642	T	0.00318	-1.1821	10	0.54805	T	0.06	-2.6464	19.277	0.94036	0.0:1.0:0.0:0.0	.	164;164;164	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	M	164	ENSP00000336783:T164M;ENSP00000301624:T164M;ENSP00000440310:T164M;ENSP00000442421:T164M	ENSP00000301624:T164M	T	+	2	0	TNRC6C	73557229	1.000000	0.71417	0.920000	0.36463	0.994000	0.84299	2.830000	0.48136	2.782000	0.95742	0.655000	0.94253	ACG	TNRC6C	-	NULL	ENSG00000078687		0.483	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	272	0.00	0	C	NM_018996		76045634	76045634	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	missense	377	11.92	51	SNP	1.000	T
TSG101	7251	genome.wustl.edu	37	11	18503191	18503191	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr11:18503191C>T	ENST00000251968.3	-	9	1484	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	TSG101_ENST00000357193.3_Missense_Mutation_p.D252N|TSG101_ENST00000536719.1_Missense_Mutation_p.D357N	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	357	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.D357Y(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AGGAAGACATCCAGGTCTATC	0.403																																					GBM(99;1348 1396 8611 26475 50572)	dbGAP											1	Substitution - Missense(1)	lung(1)											100.0	91.0	94.0					11																	18503191		2199	4293	6492	-	-	-	SO:0001583	missense	0			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.1069G>A	11.37:g.18503191C>T	ENSP00000251968:p.Asp357Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUM5	Missense_Mutation	SNP	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.D357N	ENST00000251968.3	37	c.1069	CCDS7842.1	11	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032722	0.93575	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.55234	0.53;0.61;0.62	5.64	5.64	0.86602	Steadiness box (2);	0.051855	0.85682	D	0.000000	T	0.72317	0.3445	M	0.74881	2.28	0.58432	D	0.999999	D	0.59767	0.986	D	0.66351	0.943	T	0.74822	-0.3534	10	0.72032	D	0.01	-4.6359	17.8719	0.88813	0.0:1.0:0.0:0.0	.	357	Q99816	TS101_HUMAN	N	357;357;252	ENSP00000438471:D357N;ENSP00000251968:D357N;ENSP00000349721:D252N	ENSP00000251968:D357N	D	-	1	0	TSG101	18459767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.499000	0.81566	2.642000	0.89623	0.643000	0.83706	GAT	TSG101	-	pfam_Steadiness_box	ENSG00000074319		0.403	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1	150	0.00	0	C	NM_006292		18503191	18503191	-1	no_errors	ENST00000251968	ensembl	human	known	69_37n	missense	254	19.11	60	SNP	1.000	T
TYRP1	7306	genome.wustl.edu	37	9	12695736	12695736	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr9:12695736G>C	ENST00000388918.5	+	3	736	c.607G>C	c.(607-609)Gta>Cta	p.V203L	TYRP1_ENST00000381136.2_5'UTR|TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	203					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTTCCTTGGGGTAGGACAGGA	0.458									Oculocutaneous Albinism																													dbGAP											0													91.0	91.0	91.0					9																	12695736		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.607G>C	9.37:g.12695736G>C	ENSP00000373570:p.Val203Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.V203L	ENST00000388918.5	37	c.607	CCDS34990.1	9	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384813	0.42308	.	.	ENSG00000107165	ENST00000388918	D	0.98732	-5.1	5.26	-3.71	0.04424	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.723670	0.14164	N	0.337192	D	0.93963	0.8067	N	0.08118	0	0.45914	D	0.998751	B	0.14438	0.01	B	0.21360	0.034	T	0.79650	-0.1715	10	0.62326	D	0.03	-13.3983	12.2107	0.54377	0.1983:0.6145:0.1871:0.0	.	203	P17643	TYRP1_HUMAN	L	203	ENSP00000373570:V203L	ENSP00000373570:V203L	V	+	1	0	TYRP1	12685736	0.000000	0.05858	0.714000	0.30535	0.963000	0.63663	-0.219000	0.09228	-0.643000	0.05473	0.467000	0.42956	GTA	TYRP1	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre	ENSG00000107165		0.458	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	383	0.00	0	G	NM_000550		12695736	12695736	+1	no_errors	ENST00000388918	ensembl	human	known	69_37n	missense	341	11.66	45	SNP	0.368	C
U2AF1	7307	genome.wustl.edu	37	21	44513293	44513293	+	Silent	SNP	G	G	A	rs199980669	byFrequency	TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr21:44513293G>A	ENST00000291552.4	-	8	734	c.642C>T	c.(640-642)ggC>ggT	p.G214G	U2AF1_ENST00000380276.2_Silent_p.G214G|U2AF1_ENST00000459639.1_Silent_p.G141G|U2AF1_ENST00000398137.1_Silent_p.G141G|U2AF1_ENST00000486519.1_5'Flank	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	214	Arg/Gly/Ser-rich (RS domain).|Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						caccgccaccgccaccgccac	0.582			Mis		"""CLL, MDS"""								G|||	3	0.000599042	0.0015	0.0	5008	,	,		10826	0.0		0.0	False		,,,				2504	0.001					dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	0													28.0	33.0	32.0					21																	44513293		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.642C>T	21.37:g.44513293G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q701P4|Q71RF1	Silent	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.G214	ENST00000291552.4	37	c.642	CCDS13694.1	21																																																																																			U2AF1	-	NULL	ENSG00000160201		0.582	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	50	0.00	0	G	NM_006758		44513293	44513293	-1	no_errors	ENST00000291552	ensembl	human	known	69_37n	silent	37	13.04	6	SNP	0.377	A
WBP11P1	441818	genome.wustl.edu	37	18	30093051	30093051	+	RNA	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr18:30093051C>T	ENST00000567636.1	+	0	1426					NR_003558.1				WW domain binding protein 11 pseudogene 1																		TATGAACCTTCCCCCTGGACC	0.577																																						dbGAP											0																																										-	-	-			0			BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30093051C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000567636.1	37	NULL		18																																																																																			WBP11P1	-	-	ENSG00000260389		0.577	WBP11P1-002	KNOWN	basic	processed_transcript	WBP11P1	HGNC	pseudogene	OTTHUMT00000435119.1	44	0.00	0	C			30093051	30093051	+1	no_errors	ENST00000567636	ensembl	human	known	69_37n	rna	46	19.30	11	SNP	0.906	T
XKR8	55113	genome.wustl.edu	37	1	28293114	28293114	+	Silent	SNP	G	G	C			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr1:28293114G>C	ENST00000373884.5	+	3	1199	c.591G>C	c.(589-591)ctG>ctC	p.L197L	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	197					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		TCCTGGGCCTGGGCTCCTCCG	0.657																																						dbGAP											0													80.0	81.0	81.0					1																	28293114		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.591G>C	1.37:g.28293114G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Transport_prot_XK	p.L197	ENST00000373884.5	37	c.591	CCDS315.1	1																																																																																			XKR8	-	pfam_Transport_prot_XK	ENSG00000158156		0.657	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	HGNC	protein_coding	OTTHUMT00000011175.1	47	0.00	0	G	NM_018053		28293114	28293114	+1	no_errors	ENST00000373884	ensembl	human	known	69_37n	silent	44	13.46	7	SNP	0.000	C
ZBTB24	9841	genome.wustl.edu	37	6	109803035	109803035	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr6:109803035C>G	ENST00000230122.3	-	2	362	c.195G>C	c.(193-195)atG>atC	p.M65I		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	65	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTTCTGCAAACATCATTGAGA	0.443																																						dbGAP											0													112.0	107.0	108.0					6																	109803035		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.195G>C	6.37:g.109803035C>G	ENSP00000230122:p.Met65Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M65I	ENST00000230122.3	37	c.195	CCDS34509.1	6	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632412	0.67015	.	.	ENSG00000112365	ENST00000230122	T	0.69561	-0.41	5.55	4.68	0.58851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.126572	0.64402	D	0.000001	T	0.68650	0.3024	L	0.53561	1.675	0.42767	D	0.993823	D;D	0.58620	0.961;0.983	P;D	0.65233	0.794;0.933	T	0.69811	-0.5044	9	.	.	.	-26.2319	14.3661	0.66807	0.0:0.9288:0.0:0.0712	.	65;65	O43167-2;O43167	.;ZBT24_HUMAN	I	65	ENSP00000230122:M65I	.	M	-	3	0	ZBTB24	109909728	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.336000	0.79245	1.338000	0.45544	0.655000	0.94253	ATG	ZBTB24	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000112365		0.443	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB24	HGNC	protein_coding	OTTHUMT00000041758.1	98	0.00	0	C	NM_014797		109803035	109803035	-1	no_errors	ENST00000230122	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	G
ZNF205	7755	genome.wustl.edu	37	16	3170063	3170063	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr16:3170063C>T	ENST00000382192.3	+	7	1607	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	ZNF205_ENST00000219091.4_Missense_Mutation_p.R468C|RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	468					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CGCGCACAACCGCACACACAC	0.657																																						dbGAP											0													114.0	96.0	102.0					16																	3170063		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1402C>T	16.37:g.3170063C>T	ENSP00000371627:p.Arg468Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R468C	ENST00000382192.3	37	c.1402	CCDS10494.2	16	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710311	0.68730	.	.	ENSG00000122386	ENST00000382192;ENST00000219091	T;T	0.02472	4.28;4.28	5.54	4.53	0.55603	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000200	T	0.16041	0.0386	M	0.86805	2.84	0.39576	D	0.969363	D	0.89917	1.0	D	0.87578	0.998	T	0.00116	-1.2036	10	0.87932	D	0	-56.5457	10.7766	0.46353	0.3025:0.6975:0.0:0.0	.	468	O95201	ZN205_HUMAN	C	468	ENSP00000371627:R468C;ENSP00000219091:R468C	ENSP00000219091:R468C	R	+	1	0	ZNF205	3110064	0.004000	0.15560	1.000000	0.80357	0.985000	0.73830	0.321000	0.19558	2.604000	0.88044	0.561000	0.74099	CGC	ZNF205	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000122386		0.657	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF205	HGNC	protein_coding	OTTHUMT00000309057.1	29	0.00	0	C	NM_003456		3170063	3170063	+1	no_errors	ENST00000219091	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	1.000	T
ZNF536	9745	genome.wustl.edu	37	19	30936439	30936439	+	Missense_Mutation	SNP	G	G	A	rs556954524		TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr19:30936439G>A	ENST00000355537.3	+	2	2117	c.1970G>A	c.(1969-1971)cGc>cAc	p.R657H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	657					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R657H(1)|p.R657L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCGGGACCGCAAGGGCGAG	0.692																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											53.0	59.0	57.0					19																	30936439		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1970G>A	19.37:g.30936439G>A	ENSP00000347730:p.Arg657His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R657H	ENST00000355537.3	37	c.1970	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790713	0.70452	.	.	ENSG00000198597	ENST00000355537	T	0.10960	2.82	5.42	5.42	0.78866	Zinc finger, C2H2 (1);	0.053940	0.64402	D	0.000003	T	0.22126	0.0533	N	0.24115	0.695	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.959	T	0.02553	-1.1142	10	0.72032	D	0.01	-41.0082	19.2151	0.93774	0.0:0.0:1.0:0.0	.	657;657	A7E228;O15090	.;ZN536_HUMAN	H	657	ENSP00000347730:R657H	ENSP00000347730:R657H	R	+	2	0	ZNF536	35628279	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.589000	0.82641	2.509000	0.84616	0.655000	0.94253	CGC	ZNF536	-	pfscan_Znf_C2H2	ENSG00000198597		0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	50	0.00	0	G	NM_014717		30936439	30936439	+1	no_errors	ENST00000355537	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	1.000	A
ZNF28	7576	genome.wustl.edu	37	19	53303907	53303907	+	Silent	SNP	A	A	G			TCGA-A8-A07W-01A-11W-A019-09	TCGA-A8-A07W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9bc8dbab-c700-498c-8ff7-ccc62c911349	efeb884c-b13d-46ba-90b0-5b23593b53f3	g.chr19:53303907A>G	ENST00000457749.2	-	4	1310	c.1191T>C	c.(1189-1191)caT>caC	p.H397H	ZNF28_ENST00000360272.4_Silent_p.H344H|ZNF28_ENST00000414252.2_Silent_p.H344H|ZNF28_ENST00000438150.2_Silent_p.H344H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTCTTTCAAGATGTGATTTGC	0.378																																						dbGAP											0													102.0	106.0	105.0					19																	53303907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1191T>C	19.37:g.53303907A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H397	ENST00000457749.2	37	c.1191	CCDS33093.2	19																																																																																			ZNF28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198538		0.378	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2	250	0.00	0	A	NM_006969		53303907	53303907	-1	no_errors	ENST00000457749	ensembl	human	known	69_37n	silent	169	56.30	219	SNP	0.003	G
