#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTS3	9508	genome.wustl.edu	37	4	73149357	73149357	+	Silent	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr4:73149357G>A	ENST00000286657.4	-	22	3150	c.3114C>T	c.(3112-3114)tcC>tcT	p.S1038S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1038	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACCTGGTATGGAGCAGTATC	0.423																																					NSCLC(168;1941 2048 2918 13048 43078)	dbGAP											0													111.0	105.0	107.0					4																	73149357		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3114C>T	4.37:g.73149357G>A			A1L3U9|Q9BXZ8	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S1038	ENST00000286657.4	37	c.3114	CCDS3553.1	4																																																																																			ADAMTS3	-	pfscan_PLAC	ENSG00000156140		0.423	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	139	0.00	0	G			73149357	73149357	-1	no_errors	ENST00000286657	ensembl	human	known	69_37n	silent	86	45.91	73	SNP	1.000	A
ARMCX5	64860	genome.wustl.edu	37	X	101858403	101858403	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chrX:101858403G>T	ENST00000604957.1	+	1	3956	c.1334G>T	c.(1333-1335)aGt>aTt	p.S445I	RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.S445I|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S445I|ARMCX5_ENST00000372742.1_Missense_Mutation_p.S445I|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S445I|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S445I	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	445										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AACAAGGGAAGTGTCAAAACC	0.348																																						dbGAP											0													56.0	53.0	54.0					X																	101858403		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1334G>T	X.37:g.101858403G>T	ENSP00000474720:p.Ser445Ile		B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S445I	ENST00000604957.1	37	c.1334	CCDS14500.1	X	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110411	0.37242	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	4.11	1.38	0.22167	Armadillo-like helical (1);Armadillo-type fold (1);	0.135982	0.34580	N	0.003853	T	0.43743	0.1261	L	0.46157	1.445	0.09310	N	0.999996	D	0.71674	0.998	D	0.65874	0.939	T	0.20538	-1.0272	10	0.72032	D	0.01	-9.7233	5.4795	0.16715	0.3742:0.0:0.6258:0.0	.	445	Q6P1M9	ARMX5_HUMAN	I	445	ENSP00000246174:S445I;ENSP00000439001:S445I;ENSP00000446385:S445I;ENSP00000445851:S445I;ENSP00000361827:S445I	ENSP00000246174:S445I	S	+	2	0	ARMCX5	101745059	0.998000	0.40836	0.167000	0.22817	0.991000	0.79684	0.111000	0.15458	0.167000	0.19631	0.529000	0.55759	AGT	ARMCX5	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000125962		0.348	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	104	0.00	0	G	NM_022838		101858403	101858403	+1	no_errors	ENST00000246174	ensembl	human	known	69_37n	missense	98	30.00	42	SNP	0.146	T
ASIC3	9311	genome.wustl.edu	37	7	150746364	150746364	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr7:150746364G>A	ENST00000349064.5	+	1	590	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	ASIC3_ENST00000357922.4_Missense_Mutation_p.R131Q|ASIC3_ENST00000297512.8_Missense_Mutation_p.R131Q	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	131					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										GCCCTGGGCCGGCCCCCTGCA	0.697																																						dbGAP											0													34.0	37.0	36.0					7																	150746364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.392G>A	7.37:g.150746364G>A	ENSP00000344838:p.Arg131Gln		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.R131Q	ENST00000349064.5	37	c.392	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134659	0.09032	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.63096	-0.02;-0.02;-0.02	5.29	-3.98	0.04082	.	59.767700	0.00357	U	0.000030	T	0.39989	0.1099	N	0.10733	0.035	0.22156	N	0.999326	B;B;B	0.12013	0.005;0.0;0.002	B;B;B	0.10450	0.005;0.002;0.004	T	0.40720	-0.9548	10	0.08837	T	0.75	-12.9721	12.3807	0.55305	0.6568:0.0:0.3432:0.0	.	131;131;131	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	Q	131	ENSP00000350600:R131Q;ENSP00000344838:R131Q;ENSP00000297512:R131Q	ENSP00000297512:R131Q	R	+	2	0	ACCN3	150377297	0.000000	0.05858	0.941000	0.38009	0.007000	0.05969	-0.856000	0.04290	-0.745000	0.04772	-1.036000	0.02392	CGG	ASIC3	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000213199		0.697	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	43	0.00	0	G	NM_004769		150746364	150746364	+1	no_errors	ENST00000297512	ensembl	human	known	69_37n	missense	4	80.00	16	SNP	0.954	A
MFRP	83552	genome.wustl.edu	37	11	119216272	119216273	+	Frame_Shift_Ins	INS	-	-	G	rs200825785	byFrequency	TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr11:119216272_119216273insG	ENST00000530681.1	-	5	642_643	c.498_499insC	c.(496-501)cccaacfs	p.N167fs	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Frame_Shift_Ins_p.N167fs|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Frame_Shift_Ins_p.N167fs|MFRP_ENST00000555262.1_Frame_Shift_Ins_p.N167fs	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	167	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CAGTGGGTGTTGGGGGGGTAAG	0.564																																						dbGAP											0			GRCh37	CD052468|CI067239	MFRP	D|I																																				-	-	-	SO:0001589	frameshift_variant	0			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.499dupC	11.37:g.119216279_119216279dupG	ENSP00000456533:p.Asn167fs		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Frame_Shift_Ins	INS	pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt	p.N166fs	ENST00000530681.1	37	c.499_498	CCDS8421.1	11																																																																																			MFRP	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000235718		0.564	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C1QTNF5	Clone_based_vega_gene	protein_coding	OTTHUMT00000415179.1	108	0.00	0	-	NM_031433		119216272	119216273	-1	no_errors	ENST00000449574	ensembl	human	known	69_37n	frame_shift_ins	31	16.22	6	INS	0.997:1.000	G
C1QTNF9B	387911	genome.wustl.edu	37	13	24465804	24465804	+	Missense_Mutation	SNP	G	G	A	rs557541660		TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr13:24465804G>A	ENST00000382140.2	-	5	686	c.626C>T	c.(625-627)aCg>aTg	p.T209M	C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|MIPEP_ENST00000469167.1_5'Flank|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.T209M|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	209	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GCTCAGCACCGTGAGCCCCAC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		23718	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													100.0	110.0	107.0					13																	24465804		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.626C>T	13.37:g.24465804G>A	ENSP00000371575:p.Thr209Met		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.T209M	ENST00000382140.2	37	c.626	CCDS31947.1	13	.	.	.	.	.	.	.	.	.	.	g	15.64	2.894544	0.52121	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.93488	-3.23;-3.23	4.26	4.26	0.50523	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.158069	0.56097	D	0.000033	D	0.90967	0.7160	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.91307	0.5071	10	0.62326	D	0.03	.	9.5623	0.39378	0.0972:0.0:0.9028:0.0	.	209	B2RNN3	C1T9B_HUMAN	M	209	ENSP00000371572:T209M;ENSP00000371575:T209M	ENSP00000371572:T209M	T	-	2	0	C1QTNF9B	23363804	1.000000	0.71417	0.897000	0.35233	0.829000	0.46940	5.764000	0.68826	1.950000	0.56595	0.456000	0.33151	ACG	C1QTNF9B	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q	ENSG00000205863		0.453	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	C1QTNF9B	HGNC	protein_coding	OTTHUMT00000044162.3	191	0.00	0	G	NM_001007537		24465804	24465804	-1	no_errors	ENST00000382137	ensembl	human	known	69_37n	missense	324	13.37	50	SNP	0.982	A
SIMC1	375484	genome.wustl.edu	37	5	175717341	175717341	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr5:175717341C>T	ENST00000443967.1	+	4	1164	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	SIMC1_ENST00000429602.2_Missense_Mutation_p.R272W|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	253	Pro-rich.						SUMO polymer binding (GO:0032184)										GCCATGCCCTCGGCAGAATAT	0.547																																						dbGAP											0													112.0	99.0	103.0					5																	175717341		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.757C>T	5.37:g.175717341C>T	ENSP00000406571:p.Arg253Trp		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.R253W	ENST00000443967.1	37	c.757		5	.	.	.	.	.	.	.	.	.	.	C	1.813	-0.474089	0.04414	.	.	ENSG00000170085	ENST00000443967;ENST00000429602;ENST00000377277	T;T	0.32515	2.2;1.45	3.32	2.45	0.29901	.	3.982800	0.00481	N	0.000126	T	0.27384	0.0672	.	.	.	0.09310	N	1	P;D	0.56968	0.825;0.978	B;B	0.36959	0.237;0.237	T	0.45644	-0.9247	9	0.66056	D	0.02	10.2671	11.2007	0.48739	0.0:0.8106:0.1894:0.0	.	272;253	B4DRM7;Q8NDZ2	.;CE025_HUMAN	W	253;272;164	ENSP00000406571:R253W;ENSP00000410552:R272W	ENSP00000366489:R164W	R	+	1	2	C5orf25	175649947	0.549000	0.26481	0.003000	0.11579	0.039000	0.13416	1.574000	0.36482	0.401000	0.25424	-1.028000	0.02416	CGG	C5orf25	-	NULL	ENSG00000170085		0.547	SIMC1-001	KNOWN	basic	protein_coding	C5orf25	HGNC	protein_coding	OTTHUMT00000253155.2	404	0.00	0	C	NM_198567		175717341	175717341	+1	no_errors	ENST00000443967	ensembl	human	known	69_37n	missense	130	46.59	116	SNP	0.004	T
CDC42EP1	11135	genome.wustl.edu	37	22	37962638	37962639	+	Frame_Shift_Ins	INS	-	-	C	rs150186371		TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr22:37962638_37962639insC	ENST00000249014.4	+	2	702_703	c.282_283insC	c.(283-285)cccfs	p.P95fs		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	95					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGGTGGGGGCGCCCCCCCGGAG	0.693																																						dbGAP											0										16,4230		0,16,2107						-9.9	0.0			29	14,8214		0,14,4100	no	frameshift	CDC42EP1	NM_152243.2		0,30,6207	A1A1,A1R,RR		0.1702,0.3768,0.2405				30,12444				-	-	-	SO:0001589	frameshift_variant	0			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.289dupC	22.37:g.37962645_37962645dupC	ENSP00000249014:p.Pro95fs		A8K825|Q96GN1	Frame_Shift_Ins	INS	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.R96fs	ENST00000249014.4	37	c.282_283	CCDS13949.1	22																																																																																			CDC42EP1	-	NULL	ENSG00000128283		0.693	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	53	0.00	0	-	NM_152243		37962638	37962639	+1	no_errors	ENST00000249014	ensembl	human	known	69_37n	frame_shift_ins	20	16.67	4	INS	0.000:0.001	C
CEP250	11190	genome.wustl.edu	37	20	34092646	34092646	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr20:34092646G>A	ENST00000397527.1	+	30	7169	c.6449G>A	c.(6448-6450)cGg>cAg	p.R2150Q	CEP250_ENST00000342580.4_Missense_Mutation_p.R2094Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2150	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGGCTGCAGCGGGAGCTGGAG	0.567																																						dbGAP											0													54.0	59.0	57.0					20																	34092646		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6449G>A	20.37:g.34092646G>A	ENSP00000380661:p.Arg2150Gln		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.R2150Q	ENST00000397527.1	37	c.6449	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	3.250	-0.153439	0.06585	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.38887	3.13;3.14;1.11	5.01	-1.14	0.09741	.	0.725300	0.12376	N	0.474360	T	0.14960	0.0361	N	0.04746	-0.17	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.29579	-1.0007	10	0.06236	T	0.91	.	5.3891	0.16234	0.6564:0.0:0.2102:0.1334	.	2150	Q9BV73	CP250_HUMAN	Q	2150;2094;638	ENSP00000380661:R2150Q;ENSP00000341541:R2094Q;ENSP00000395992:R638Q	ENSP00000341541:R2094Q	R	+	2	0	CEP250	33556060	0.997000	0.39634	0.069000	0.20011	0.439000	0.31926	-0.024000	0.12435	-0.362000	0.08113	0.655000	0.94253	CGG	CEP250	-	NULL	ENSG00000126001		0.567	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	90	0.00	0	G	NM_007186		34092646	34092646	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	missense	61	47.41	55	SNP	0.036	A
CNGA4	1262	genome.wustl.edu	37	11	6261469	6261469	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr11:6261469C>T	ENST00000379936.2	+	4	560	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	149					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGCGCGCCCCGCCTCTTCGA	0.592																																						dbGAP											0													78.0	86.0	84.0					11																	6261469		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.445C>T	11.37:g.6261469C>T	ENSP00000369268:p.Arg149Cys			Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R149C	ENST00000379936.2	37	c.445	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981622	0.74474	.	.	ENSG00000132259	ENST00000379936	D	0.99523	-6.08	5.26	5.26	0.73747	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.972	D	0.97450	1.0027	10	0.87932	D	0	.	17.7792	0.88518	0.0:1.0:0.0:0.0	.	149;109	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	C	149	ENSP00000369268:R149C	ENSP00000369268:R149C	R	+	1	0	CNGA4	6218045	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	5.673000	0.68109	2.607000	0.88179	0.655000	0.94253	CGC	CNGA4	-	pfam_Ion_trans_dom	ENSG00000132259		0.592	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	18	0.00	0	C	NM_001037329		6261469	6261469	+1	no_errors	ENST00000379936	ensembl	human	known	69_37n	missense	69	34.29	36	SNP	1.000	T
COL9A1	1297	genome.wustl.edu	37	6	70942387	70942387	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr6:70942387G>A	ENST00000357250.6	-	36	2560	c.2402C>T	c.(2401-2403)cCc>cTc	p.P801L	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.P558L|COL9A1_ENST00000370499.4_Missense_Mutation_p.P558L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	801	Collagen-like 9.|Triple-helical region (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGGAGGGCCGGGGGGACCAGG	0.577																																						dbGAP											0													38.0	45.0	42.0					6																	70942387		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2402C>T	6.37:g.70942387G>A	ENSP00000349790:p.Pro801Leu		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.P801L	ENST00000357250.6	37	c.2402	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967791	0.34754	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93307	-3.2;-3.2;-3.2	5.91	5.04	0.67666	.	0.099687	0.64402	D	0.000001	D	0.95667	0.8591	M	0.84948	2.725	0.80722	D	1	P;D;D	0.89917	0.875;1.0;1.0	P;D;D	0.97110	0.591;0.977;1.0	D	0.95740	0.8782	10	0.56958	D	0.05	.	9.9761	0.41783	0.0687:0.0:0.794:0.1373	.	801;558;350	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	L	801;558;558	ENSP00000349790:P801L;ENSP00000315252:P558L;ENSP00000359530:P558L	ENSP00000315252:P558L	P	-	2	0	COL9A1	70999108	1.000000	0.71417	0.722000	0.30670	0.114000	0.19823	6.512000	0.73737	1.509000	0.48786	0.655000	0.94253	CCC	COL9A1	-	pfam_Collagen	ENSG00000112280		0.577	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	124	0.00	0	G			70942387	70942387	-1	no_errors	ENST00000357250	ensembl	human	known	69_37n	missense	58	23.68	18	SNP	0.997	A
CR1	1378	genome.wustl.edu	37	1	207726127	207726127	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr1:207726127T>G	ENST00000367049.4	+	19	3032	c.3032T>G	c.(3031-3033)gTg>gGg	p.V1011G	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.V561G|RP11-78B10.2_ENST00000439443.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.V1011G|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	561	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAGATCCAGTGAATGGCATG	0.433																																						dbGAP											0													1.0	1.0	1.0					1																	207726127		244	590	834	-	-	-	SO:0001583	missense	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.3032T>G	1.37:g.207726127T>G	ENSP00000356016:p.Val1011Gly		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.V1011G	ENST00000367049.4	37	c.3032	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	t	7.125	0.578720	0.13686	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367049;ENST00000400961	T;T;T	0.63744	-0.06;-0.06;-0.06	1.96	-0.713	0.11223	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.53206	0.1782	L	0.39147	1.195	0.09310	N	1	B;P;P	0.51057	0.0;0.622;0.941	B;B;P	0.52267	0.001;0.41;0.694	T	0.42172	-0.9467	9	0.23891	T	0.37	.	1.6897	0.02849	0.3113:0.1962:0.0:0.4925	.	536;561;1011	Q5SR42;P17927;E9PDY4	.;CR1_HUMAN;.	G	1011;561;1011;521	ENSP00000356019:V1011G;ENSP00000356018:V561G;ENSP00000356016:V1011G	ENSP00000356016:V1011G	V	+	2	0	CR1	205792750	0.001000	0.12720	0.003000	0.11579	0.153000	0.21895	-0.095000	0.11077	-0.166000	0.10890	0.248000	0.18094	GTG	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000203710		0.433	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	182	0.00	0	T	NM_000573		207726127	207726127	+1	no_errors	ENST00000367049	ensembl	human	known	69_37n	missense	106	13.71	17	SNP	0.003	G
CRNKL1	51340	genome.wustl.edu	37	20	20033036	20033036	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr20:20033036A>C	ENST00000377340.2	-	2	465	c.434T>G	c.(433-435)tTt>tGt	p.F145C	CRNKL1_ENST00000536226.1_De_novo_Start_OutOfFrame|C20orf26_ENST00000245957.5_5'Flank|C20orf26_ENST00000389656.3_5'Flank|C20orf26_ENST00000377306.1_5'Flank|C20orf26_ENST00000377309.2_5'Flank|CRNKL1_ENST00000377327.4_Missense_Mutation_p.F133C	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	145					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GGACGCTAGAAATCGGCTCTG	0.592																																						dbGAP											0													57.0	58.0	57.0					20																	20033036		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.434T>G	20.37:g.20033036A>C	ENSP00000366557:p.Phe145Cys		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.F145C	ENST00000377340.2	37	c.434	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	A	11.61	1.690459	0.29962	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	T;T	0.29655	1.56;1.57	5.16	2.8	0.32819	.	1.349590	0.05307	N	0.524044	T	0.17662	0.0424	N	0.08118	0	0.20873	N	0.999835	D;P	0.55800	0.973;0.679	B;B	0.43754	0.43;0.174	T	0.11743	-1.0575	10	0.72032	D	0.01	0.5144	2.2834	0.04120	0.5913:0.1744:0.0869:0.1473	.	133;145	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	C	133;145	ENSP00000366544:F133C;ENSP00000366557:F145C	ENSP00000366544:F133C	F	-	2	0	CRNKL1	19981036	0.152000	0.22762	0.003000	0.11579	0.010000	0.07245	0.813000	0.27225	0.941000	0.37499	0.533000	0.62120	TTT	CRNKL1	-	NULL	ENSG00000101343		0.592	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	86	0.00	0	A			20033036	20033036	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	missense	58	33.33	29	SNP	0.000	C
DTNB	1838	genome.wustl.edu	37	2	25611152	25611152	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:25611152A>G	ENST00000406818.3	-	17	1903	c.1654T>C	c.(1654-1656)Tct>Cct	p.S552P	DTNB_ENST00000407038.3_Missense_Mutation_p.S522P|DTNB_ENST00000496972.2_Missense_Mutation_p.S488P|DTNB_ENST00000405222.1_Missense_Mutation_p.S515P|DTNB_ENST00000404103.3_Missense_Mutation_p.S552P|DTNB_ENST00000545439.1_Missense_Mutation_p.S341P|DTNB_ENST00000407186.1_Missense_Mutation_p.S515P|DTNB_ENST00000407661.3_Missense_Mutation_p.S552P|DTNB_ENST00000288642.8_Missense_Mutation_p.S552P	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	552						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCCGGCAGACGTGGAGCGC	0.637																																						dbGAP											0													24.0	30.0	28.0					2																	25611152		2019	4155	6174	-	-	-	SO:0001583	missense	0			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1654T>C	2.37:g.25611152A>G	ENSP00000384084:p.Ser552Pro		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.S552P	ENST00000406818.3	37	c.1654	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089866	0.76756	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439	T;T;T;T;T;T;T;T;T	0.48836	2.12;2.08;2.09;2.1;2.09;2.11;2.11;2.11;0.8	5.42	5.42	0.78866	.	0.116572	0.64402	D	0.000010	T	0.66829	0.2829	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D;D;P;P;D;D;P;D;D	0.69078	0.984;0.991;0.984;0.984;0.984;0.955;0.955;0.997;0.996;0.57;0.992;0.984	P;D;P;P;P;P;P;D;D;B;P;P	0.69142	0.737;0.921;0.866;0.836;0.899;0.616;0.709;0.936;0.962;0.274;0.881;0.899	T	0.70502	-0.4854	10	0.62326	D	0.03	-14.7858	13.4332	0.61068	1.0:0.0:0.0:0.0	.	341;488;545;545;488;515;515;522;552;552;552;552	B7Z202;F5GZG4;B7Z6A9;Q1I0L3;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN;.	P	488;552;552;552;522;515;515;552;341	ENSP00000444463:S488P;ENSP00000384084:S552P;ENSP00000385482:S552P;ENSP00000385193:S552P;ENSP00000384767:S522P;ENSP00000384787:S515P;ENSP00000385784:S515P;ENSP00000288642:S552P;ENSP00000444961:S341P	ENSP00000288642:S552P	S	-	1	0	DTNB	25464656	1.000000	0.71417	0.108000	0.21378	0.517000	0.34286	9.104000	0.94239	2.064000	0.61679	0.459000	0.35465	TCT	DTNB	-	pirsf_Distrobrevin	ENSG00000138101		0.637	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	63	0.00	0	A	NM_033147		25611152	25611152	-1	no_errors	ENST00000406818	ensembl	human	known	69_37n	missense	50	20.63	13	SNP	0.992	G
DYSF	8291	genome.wustl.edu	37	2	71839796	71839797	+	Frame_Shift_Ins	INS	-	-	C	rs398123786		TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:71839796_71839797insC	ENST00000258104.3	+	39	4470_4471	c.4193_4194insC	c.(4192-4197)tgccccfs	p.CP1398fs	DYSF_ENST00000409744.1_Frame_Shift_Ins_p.CP1385fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.CP1415fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.CP1416fs|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.CP1398fs|DYSF_ENST00000409762.1_Frame_Shift_Ins_p.CP1415fs|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.CP1399fs|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.CP1430fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.CP1416fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.CP1429fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.CP1399fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1398	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATCA	0.619																																						dbGAP											0			GRCh37	CM053841	DYSF	M																																				-	-	-	SO:0001589	frameshift_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4200dupC	2.37:g.71839803_71839803dupC	ENSP00000258104:p.Cys1398fs		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Frame_Shift_Ins	INS	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.I1432fs	ENST00000258104.3	37	c.4286_4287	CCDS1918.1	2																																																																																			DYSF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000135636		0.619	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	69	0.00	0	-	NM_003494		71839796	71839797	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	frame_shift_ins	41	10.87	5	INS	1.000:0.989	C
ELMO1	9844	genome.wustl.edu	37	7	37253022	37253022	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr7:37253022G>A	ENST00000310758.4	-	12	1519	c.872C>T	c.(871-873)gCg>gTg	p.A291V	ELMO1_ENST00000442504.1_Missense_Mutation_p.A291V|ELMO1_ENST00000448602.1_Missense_Mutation_p.A291V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	291					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CAGCTGGTGCGCCATCTCATT	0.458																																						dbGAP											0													96.0	78.0	84.0					7																	37253022		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.872C>T	7.37:g.37253022G>A	ENSP00000312185:p.Ala291Val		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.A291V	ENST00000310758.4	37	c.872	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.576316|5.576316	0.96553|0.96553	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212|ENST00000433246	T;T;T;T|.	0.49139|.	2.17;2.17;2.17;0.79|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81650|0.81650	0.4867|0.4867	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.67231|.	0.95|.	T|T	0.81573|0.81573	-0.0871|-0.0871	10|5	0.62326|.	D|.	0.03|.	.|.	19.6157|19.6157	0.95633|0.95633	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	291|.	Q92556|.	ELMO1_HUMAN|.	V|C	291;195;291;291;32|71	ENSP00000312185:A291V;ENSP00000406952:A291V;ENSP00000394458:A291V;ENSP00000395933:A32V|.	ENSP00000312185:A291V|.	A|R	-|-	2|1	0|0	ELMO1|ELMO1	37219547|37219547	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.999000|0.999000	0.98932|0.98932	9.813000|9.813000	0.99286|0.99286	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GCG|CGC	ELMO1	-	NULL	ENSG00000155849		0.458	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	209	0.00	0	G	NM_130442		37253022	37253022	-1	no_errors	ENST00000310758	ensembl	human	known	69_37n	missense	243	18.94	57	SNP	1.000	A
GAREM	64762	genome.wustl.edu	37	18	29848211	29848211	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr18:29848211C>T	ENST00000269209.6	-	6	2257	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	GAREM_ENST00000399218.4_Missense_Mutation_p.E751K			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	752					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GGGTCTTCCTCAGCACCATCA	0.517																																						dbGAP											0													79.0	78.0	78.0					18																	29848211		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2254G>A	18.37:g.29848211C>T	ENSP00000269209:p.Glu752Lys		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	superfamily_SAM/pointed	p.E752K	ENST00000269209.6	37	c.2254	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	C	14.69	2.612089	0.46631	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.17370	2.28;2.28	5.56	5.56	0.83823	.	0.109676	0.64402	D	0.000005	T	0.15955	0.0384	N	0.08118	0	0.80722	D	1	D;D	0.62365	0.991;0.976	P;P	0.53266	0.551;0.722	T	0.14309	-1.0477	10	0.09843	T	0.71	-26.2623	19.5724	0.95427	0.0:1.0:0.0:0.0	.	752;751	Q9H706;Q9H706-3	FA59A_HUMAN;.	K	751;752	ENSP00000382165:E751K;ENSP00000269209:E752K	ENSP00000269209:E752K	E	-	1	0	FAM59A	28102209	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.844000	0.48246	2.602000	0.87976	0.650000	0.86243	GAG	FAM59A	-	NULL	ENSG00000141441		0.517	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM59A	HGNC	protein_coding	OTTHUMT00000255365.1	96	0.00	0	C	NM_022751		29848211	29848211	-1	no_errors	ENST00000269209	ensembl	human	known	69_37n	missense	119	13.77	19	SNP	1.000	T
GAD1	2571	genome.wustl.edu	37	2	171685996	171685996	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:171685996A>G	ENST00000358196.3	+	4	707	c.157A>G	c.(157-159)Agg>Ggg	p.R53G	GAD1_ENST00000344257.5_Missense_Mutation_p.R53G|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.R53G	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	53					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CTTCTTGCAAAGGACCAACAG	0.547																																						dbGAP											0													58.0	62.0	61.0					2																	171685996		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.157A>G	2.37:g.171685996A>G	ENSP00000350928:p.Arg53Gly		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R53G	ENST00000358196.3	37	c.157	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	A	11.43	1.636912	0.29157	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;T;T;T	0.80909	-1.43;2.34;0.5;0.5;-1.18;-1.07	5.54	5.54	0.83059	.	0.177845	0.64402	D	0.000008	T	0.66665	0.2812	N	0.13235	0.315	0.49915	D	0.999837	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.63028	-0.6728	10	0.42905	T	0.14	-12.0909	12.2297	0.54480	0.858:0.142:0.0:0.0	.	53;53	Q99259;Q99259-3	DCE1_HUMAN;.	G	53	ENSP00000402366:R53G;ENSP00000350928:R53G;ENSP00000364421:R53G;ENSP00000341167:R53G;ENSP00000405917:R53G;ENSP00000394255:R53G	ENSP00000341167:R53G	R	+	1	2	GAD1	171394242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.730000	0.62015	2.094000	0.63399	0.443000	0.29094	AGG	GAD1	-	NULL	ENSG00000128683		0.547	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	31	0.00	0	A			171685996	171685996	+1	no_errors	ENST00000358196	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	1.000	G
GIPC3	126326	genome.wustl.edu	37	19	3589526	3589527	+	Frame_Shift_Ins	INS	-	-	G	rs202075236	byFrequency	TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr19:3589526_3589527insG	ENST00000322315.5	+	4	723_724	c.678_679insG	c.(679-681)gggfs	p.G227fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	227										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCGTTCTGGGGGGGCTGC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.685dupG	19.37:g.3589533_3589533dupG	ENSP00000319254:p.Gly227fs		O75227	Frame_Shift_Ins	INS	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.A228fs	ENST00000322315.5	37	c.678_679	CCDS32871.1	19																																																																																			GIPC3	-	pirsf_UCP038083_PDZ	ENSG00000179855		0.609	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC3	HGNC	protein_coding	OTTHUMT00000394577.1	82	0.00	0	-	NM_133261		3589526	3589527	+1	no_errors	ENST00000322315	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	0.411:0.803	G
GLYR1	84656	genome.wustl.edu	37	16	4862228	4862229	+	Frame_Shift_Ins	INS	-	-	C	rs533332243		TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr16:4862228_4862229insC	ENST00000321919.9	-	13	1216_1217	c.1140_1141insG	c.(1138-1143)gggcgcfs	p.R381fs	GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.R375fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.R300fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.R364fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	381					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R381fs*15(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								43,4221		0,43,2089						4.8	1.0			40	28,8226		0,28,4099	no	frameshift	GLYR1	NM_032569.3		0,71,6188	A1A1,A1R,RR		0.3392,1.0084,0.5672				71,12447				-	-	-	SO:0001589	frameshift_variant	0			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1141dupG	16.37:g.4862236_4862236dupC	ENSP00000322716:p.Arg381fs		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Ins	INS	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.R380fs	ENST00000321919.9	37	c.1141_1140	CCDS10524.1	16																																																																																			GLYR1	-	pfam_6PGDH_NADP-bd	ENSG00000140632		0.574	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	73	0.00	0	-	NM_032569		4862228	4862229	-1	no_errors	ENST00000321919	ensembl	human	known	69_37n	frame_shift_ins	129	11.03	16	INS	0.990:0.170	C
GPC6	10082	genome.wustl.edu	37	13	94482640	94482640	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr13:94482640G>A	ENST00000377047.4	+	3	1168	c.553G>A	c.(553-555)Gac>Aac	p.D185N	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	185					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CTTCAGTGAAGACTACCTGGA	0.498																																						dbGAP											0													99.0	95.0	96.0					13																	94482640		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.553G>A	13.37:g.94482640G>A	ENSP00000366246:p.Asp185Asn		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.D185N	ENST00000377047.4	37	c.553	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.304402	0.95601	.	.	ENSG00000183098	ENST00000377047	T	0.55760	0.5	5.53	5.53	0.82687	.	0.059770	0.64402	D	0.000004	T	0.67869	0.2939	L	0.60957	1.885	0.58432	D	0.999991	P;P	0.47191	0.891;0.645	P;P	0.57960	0.83;0.643	T	0.66081	-0.6012	10	0.51188	T	0.08	.	19.8217	0.96599	0.0:0.0:1.0:0.0	.	185;185	B4E2M1;Q9Y625	.;GPC6_HUMAN	N	185	ENSP00000366246:D185N	ENSP00000366246:D185N	D	+	1	0	GPC6	93280641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.775000	0.95449	0.650000	0.86243	GAC	GPC6	-	pfam_Glypican	ENSG00000183098		0.498	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	181	0.00	0	G	NM_005708		94482640	94482640	+1	no_errors	ENST00000377047	ensembl	human	known	69_37n	missense	135	31.12	61	SNP	1.000	A
GPR162	27239	genome.wustl.edu	37	12	6933549	6933549	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr12:6933549G>A	ENST00000311268.3	+	2	1272	c.485G>A	c.(484-486)cGc>cAc	p.R162H	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						AACGGCGAGCGCTACTATGCC	0.577																																						dbGAP											0													62.0	59.0	60.0					12																	6933549		2203	4300	6503	-	-	-	SO:0001583	missense	0			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.485G>A	12.37:g.6933549G>A	ENSP00000311528:p.Arg162His		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_162,prints_GPCR_153/162	p.R162H	ENST00000311268.3	37	c.485	CCDS8563.1	12	.	.	.	.	.	.	.	.	.	.	G	30	5.051320	0.93740	.	.	ENSG00000250510	ENST00000311268	T	0.72505	-0.66	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.77425	0.4128	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80151	-0.1502	9	0.59425	D	0.04	.	16.9233	0.86168	0.0:0.0:1.0:0.0	.	162;162	B7Z3U3;Q16538	.;GP162_HUMAN	H	162	ENSP00000311528:R162H	ENSP00000311528:R162H	R	+	2	0	GPR162	6803810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.644000	0.98468	2.229000	0.72834	0.491000	0.48974	CGC	GPR162	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000250510		0.577	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR162	HGNC	protein_coding	OTTHUMT00000399478.1	36	0.00	0	G	NM_019858		6933549	6933549	+1	no_errors	ENST00000311268	ensembl	human	known	69_37n	missense	25	23.53	8	SNP	1.000	A
GSK3B	2932	genome.wustl.edu	37	3	119585461	119585461	+	Intron	SNP	T	T	G			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr3:119585461T>G	ENST00000264235.8	-	9	1892				GSK3B_ENST00000473886.1_Intron|GSK3B_ENST00000316626.5_Silent_p.T308T	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta						axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGAAATGTCCTGTTCCTGACG	0.388																																						dbGAP											0													92.0	99.0	97.0					3																	119585461		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.910-3009A>C	3.37:g.119585461T>G			D3DN89|Q9BWH3|Q9UL47	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T308	ENST00000264235.8	37	c.924	CCDS54628.1	3																																																																																			GSK3B	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000082701		0.388	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3B	HGNC	protein_coding	OTTHUMT00000258240.2	207	0.00	0	T			119585461	119585461	-1	no_errors	ENST00000316626	ensembl	human	known	69_37n	silent	199	24.81	66	SNP	1.000	G
HEPH	9843	genome.wustl.edu	37	X	65475997	65475997	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chrX:65475997C>G	ENST00000343002.2	+	16	3385	c.2721C>G	c.(2719-2721)atC>atG	p.I907M	HEPH_ENST00000441993.2_Missense_Mutation_p.I910M|HEPH_ENST00000336279.5_Missense_Mutation_p.I640M|HEPH_ENST00000519389.1_Missense_Mutation_p.I961M|HEPH_ENST00000419594.1_Missense_Mutation_p.I718M|HEPH_ENST00000374727.3_Missense_Mutation_p.I910M			Q9BQS7	HEPH_HUMAN	hephaestin	907					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAAAGGGCATCCTGGAGCCCC	0.483																																						dbGAP											0													117.0	108.0	111.0					X																	65475997		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2721C>G	X.37:g.65475997C>G	ENSP00000343939:p.Ile907Met		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.I961M	ENST00000343002.2	37	c.2883		X	.	.	.	.	.	.	.	.	.	.	C	6.531	0.466150	0.12402	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02;-5.02	4.52	2.75	0.32379	Cupredoxin (2);	0.268099	0.37012	N	0.002295	D	0.94118	0.8114	N	0.17082	0.46	0.09310	N	1	P;B;P;P	0.43788	0.737;0.444;0.817;0.529	B;B;B;B	0.42738	0.289;0.289;0.2;0.396	D	0.89123	0.3504	10	0.34782	T	0.22	.	7.8393	0.29389	0.0:0.7121:0.0:0.2879	.	961;307;718;907	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	M	961;910;640;910;718;907	ENSP00000430620:I961M;ENSP00000363859:I910M;ENSP00000337418:I640M;ENSP00000411687:I910M;ENSP00000413211:I718M;ENSP00000343939:I907M	ENSP00000337418:I640M	I	+	3	3	HEPH	65392722	0.000000	0.05858	0.175000	0.22980	0.629000	0.37895	-2.158000	0.01281	0.486000	0.27676	-0.191000	0.12829	ATC	HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.483	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	499	0.00	0	C	NM_138737		65475997	65475997	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	missense	318	27.56	121	SNP	0.065	G
KIAA0100	9703	genome.wustl.edu	37	17	26961724	26961724	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr17:26961724G>C	ENST00000528896.2	-	16	2955	c.2881C>G	c.(2881-2883)Cgg>Ggg	p.R961G	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R818G|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R818G|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	961						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGCAGTGCCCGGCGCATGGGT	0.522																																						dbGAP											0													106.0	105.0	105.0					17																	26961724		2203	4300	6503	-	-	-	SO:0001583	missense	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2881C>G	17.37:g.26961724G>C	ENSP00000436773:p.Arg961Gly		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.R961G	ENST00000528896.2	37	c.2881	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883400	0.33255	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23754	1.89;1.89	5.9	4.91	0.64330	.	0.050961	0.85682	D	0.000000	T	0.15392	0.0371	L	0.29908	0.895	0.37048	D	0.897447	P	0.44090	0.826	B	0.31812	0.136	T	0.14671	-1.0464	10	0.23302	T	0.38	.	13.1787	0.59642	0.0:0.0:0.564:0.436	.	961	Q14667	K0100_HUMAN	G	961;931;961;818	ENSP00000436773:R961G;ENSP00000446443:R818G	ENSP00000005905:R961G	R	-	1	2	KIAA0100	23985851	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.594000	0.54008	1.459000	0.47892	0.563000	0.77884	CGG	KIAA0100	-	NULL	ENSG00000007202		0.522	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	142	0.00	0	G	NM_014680		26961724	26961724	-1	no_errors	ENST00000005905	ensembl	human	known	69_37n	missense	207	13.75	33	SNP	1.000	C
MAPRE3	22924	genome.wustl.edu	37	2	27248516	27248517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:27248516_27248517insC	ENST00000233121.2	+	5	733_734	c.535_536insC	c.(535-537)gccfs	p.A179fs	MAPRE3_ENST00000402218.1_Frame_Shift_Ins_p.A164fs|MAPRE3_ENST00000405074.3_Frame_Shift_Ins_p.A164fs			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	179					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.C182fs*16(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATGTGGCCCCCCCCTGC	0.564																																						dbGAP											2	Insertion - Frameshift(2)	ovary(1)|large_intestine(1)								39,4227		0,39,2094						4.4	1.0			60	29,8225		0,29,4098	no	frameshift	MAPRE3	NM_012326.2		0,68,6192	A1A1,A1R,RR		0.3513,0.9142,0.5431				68,12452				-	-	-	SO:0001589	frameshift_variant	0			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.543dupC	2.37:g.27248524_27248524dupC	ENSP00000233121:p.Ala179fs		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Frame_Shift_Ins	INS	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	p.C182fs	ENST00000233121.2	37	c.535_536	CCDS1731.1	2																																																																																			MAPRE3	-	NULL	ENSG00000084764		0.564	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE3	HGNC	protein_coding	OTTHUMT00000214183.1	94	0.00	0	-	NM_012326		27248516	27248517	+1	no_errors	ENST00000233121	ensembl	human	known	69_37n	frame_shift_ins	107	17.05	22	INS	0.999:1.000	C
LOXL3	84695	genome.wustl.edu	37	2	74763923	74763924	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:74763923_74763924insC	ENST00000264094.3	-	5	895_896	c.824_825insG	c.(823-825)ggcfs	p.G275fs	LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.G275fs|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.G275fs	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	275	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCACTGCAGGGCCCCCCCCAGG	0.649																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.825dupG	2.37:g.74763931_74763931dupC	ENSP00000264094:p.Gly275fs		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Frame_Shift_Ins	INS	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.A277fs	ENST00000264094.3	37	c.825_824	CCDS1953.1	2																																																																																			LOXL3	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000115318		0.649	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	108	0.00	0	-	NM_032603		74763923	74763924	-1	no_errors	ENST00000264094	ensembl	human	known	69_37n	frame_shift_ins	98	10.91	12	INS	0.118:0.001	C
LCT	3938	genome.wustl.edu	37	2	136567537	136567537	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:136567537G>A	ENST00000264162.2	-	8	2390	c.2380C>T	c.(2380-2382)Cgt>Tgt	p.R794C	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	794	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATGTAGGAACGAACATCCACA	0.428																																						dbGAP											0													45.0	46.0	46.0					2																	136567537		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2380C>T	2.37:g.136567537G>A	ENSP00000264162:p.Arg794Cys		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.R794C	ENST00000264162.2	37	c.2380	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017931	0.54576	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.37411	1.2	5.47	5.47	0.80525	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.209847	0.44285	D	0.000480	T	0.61438	0.2347	M	0.85299	2.745	0.46131	D	0.998887	D	0.76494	0.999	D	0.63192	0.912	T	0.64193	-0.6465	10	0.48119	T	0.1	-5.5046	15.2283	0.73367	0.0:0.14:0.86:0.0	.	794	P09848	LPH_HUMAN	C	794;226	ENSP00000264162:R794C	ENSP00000264162:R794C	R	-	1	0	LCT	136284007	0.999000	0.42202	1.000000	0.80357	0.478000	0.33099	3.931000	0.56529	2.753000	0.94483	0.557000	0.71058	CGT	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.428	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	81	0.00	0	G	NM_002299		136567537	136567537	-1	no_errors	ENST00000264162	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	0.985	A
MUC7	4589	genome.wustl.edu	37	4	71346600	71346600	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr4:71346600C>T	ENST00000304887.5	+	3	329	c.139C>T	c.(139-141)Cat>Tat	p.H47Y	MUC7_ENST00000413702.1_Missense_Mutation_p.H47Y|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.H47Y	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	47					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TGAATTACCACATTATCCTGG	0.433																																						dbGAP											0													175.0	173.0	173.0					4																	71346600		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.139C>T	4.37:g.71346600C>T	ENSP00000302021:p.His47Tyr		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.H47Y	ENST00000304887.5	37	c.139	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	C	5.153	0.213898	0.09810	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.53206	0.65;0.63;0.65;0.65	3.1	-5.78	0.02362	.	.	.	.	.	T	0.17023	0.0409	N	0.14661	0.345	0.09310	N	1	P	0.35077	0.483	B	0.25291	0.059	T	0.19095	-1.0316	9	0.19147	T	0.46	.	0.749	0.00987	0.3781:0.2726:0.1251:0.2242	.	47	Q8TAX7	MUC7_HUMAN	Y	47	ENSP00000407422:H47Y;ENSP00000427594:H47Y;ENSP00000400585:H47Y;ENSP00000302021:H47Y	ENSP00000302021:H47Y	H	+	1	0	MUC7	71381189	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.603000	0.00890	-1.418000	0.02014	0.561000	0.74099	CAT	MUC7	-	NULL	ENSG00000171195		0.433	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	376	0.00	0	C	NM_152291		71346600	71346600	+1	no_errors	ENST00000304887	ensembl	human	known	69_37n	missense	513	15.21	92	SNP	0.000	T
NBAS	51594	genome.wustl.edu	37	2	15374721	15374721	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:15374721A>T	ENST00000281513.5	-	46	6119	c.6094T>A	c.(6094-6096)Tca>Aca	p.S2032T	NBAS_ENST00000441750.1_Missense_Mutation_p.S1912T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2032					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCCTTGGGTGAGATGTCAAGA	0.438																																						dbGAP											0													106.0	99.0	101.0					2																	15374721		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6094T>A	2.37:g.15374721A>T	ENSP00000281513:p.Ser2032Thr		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.S2032T	ENST00000281513.5	37	c.6094	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726145	0.30593	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461	T;T;T	0.53206	2.87;3.06;0.63	5.79	4.61	0.57282	.	0.344351	0.35013	N	0.003517	T	0.42108	0.1188	M	0.63843	1.955	0.39504	D	0.968247	P;B	0.44006	0.824;0.124	B;B	0.38020	0.263;0.019	T	0.47156	-0.9139	10	0.87932	D	0	.	8.1692	0.31245	0.726:0.1402:0.0:0.1338	.	1912;2032	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	T	1912;2032;124	ENSP00000413201:S1912T;ENSP00000281513:S2032T;ENSP00000392421:S124T	ENSP00000281513:S2032T	S	-	1	0	NBAS	15292172	1.000000	0.71417	0.078000	0.20375	0.996000	0.88848	3.221000	0.51215	0.986000	0.38683	0.528000	0.53228	TCA	NBAS	-	NULL	ENSG00000151779		0.438	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	106	0.00	0	A	NM_015909		15374721	15374721	-1	no_errors	ENST00000281513	ensembl	human	known	69_37n	missense	60	26.83	22	SNP	0.680	T
NEUROD1	4760	genome.wustl.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						dbGAP											0			GRCh37	CI992797	NEUROD1	I																																				-	-	-	SO:0001589	frameshift_variant	0			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd	p.H206fs	ENST00000295108.3	37	c.617_616	CCDS2283.1	2																																																																																			NEUROD1	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD	ENSG00000162992		0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2	79	0.00	0	-	NM_002500		182542971	182542972	-1	no_errors	ENST00000295108	ensembl	human	known	69_37n	frame_shift_ins	131	11.49	17	INS	0.999:0.996	G
NFRKB	4798	genome.wustl.edu	37	11	129754709	129754709	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr11:129754709G>A	ENST00000446488.3	-	6	776	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	NFRKB_ENST00000524794.1_Missense_Mutation_p.R250C|NFRKB_ENST00000524746.1_Missense_Mutation_p.R225C|NFRKB_ENST00000304521.5_Missense_Mutation_p.R225C	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	225					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTAGGAGAACGTGCTGGAGAG	0.517																																						dbGAP											0													71.0	76.0	74.0					11																	129754709		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.673C>T	11.37:g.129754709G>A	ENSP00000400476:p.Arg225Cys		Q12869|Q15312|Q9H048	Missense_Mutation	SNP	NULL	p.R250C	ENST00000446488.3	37	c.748	CCDS44770.1	11	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119029	0.56505	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.45	2.54	0.30619	.	0.231707	0.46442	N	0.000283	T	0.40570	0.1122	N	0.19112	0.55	0.46113	D	0.998875	B;B;B;B	0.15930	0.004;0.004;0.015;0.006	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.32214	-0.9915	9	0.87932	D	0	-0.1019	10.6721	0.45764	0.2096:0.0:0.7904:0.0	.	237;225;225;250	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	C	225;225;250;225;237	.	ENSP00000303800:R225C	R	-	1	0	NFRKB	129259919	0.951000	0.32395	0.773000	0.31616	0.981000	0.71138	1.699000	0.37804	0.679000	0.31345	0.651000	0.88453	CGT	NFRKB	-	NULL	ENSG00000170322		0.517	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFRKB	HGNC	protein_coding	OTTHUMT00000386063.2	165	0.00	0	G	NM_006165		129754709	129754709	-1	no_errors	ENST00000524794	ensembl	human	known	69_37n	missense	133	16.35	26	SNP	0.920	A
NOS1	4842	genome.wustl.edu	37	12	117723955	117723955	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr12:117723955C>T	ENST00000338101.4	-	5	1248	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	NOS1_ENST00000317775.6_Missense_Mutation_p.R415Q|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.R415Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CGAGGCATTCCGCCAGGCGTG	0.547																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											144.0	145.0	144.0					12																	117723955		2166	4296	6462	-	-	-	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1244G>A	12.37:g.117723955C>T	ENSP00000337459:p.Arg415Gln			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R415Q	ENST00000338101.4	37	c.1244	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.694354	0.96793	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.61859	0.07;0.07	4.93	4.93	0.64822	Nitric oxide synthase, oxygenase domain (3);	0.000000	0.85682	D	0.000000	D	0.83783	0.5329	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.89256	0.3594	10	0.87932	D	0	-24.7757	18.3299	0.90264	0.0:1.0:0.0:0.0	.	415	P29475	NOS1_HUMAN	Q	415	ENSP00000320758:R415Q;ENSP00000337459:R415Q	ENSP00000320758:R415Q	R	-	2	0	NOS1	116208338	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.562000	0.82300	2.559000	0.86315	0.591000	0.81541	CGG	NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met	ENSG00000089250		0.547	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	544	0.00	0	C			117723955	117723955	-1	no_errors	ENST00000317775	ensembl	human	known	69_37n	missense	141	27.69	54	SNP	1.000	T
NRXN1	9378	genome.wustl.edu	37	2	50464028	50464028	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:50464028C>T	ENST00000406316.2	-	18	4921	c.3445G>A	c.(3445-3447)Gca>Aca	p.A1149T	NRXN1_ENST00000404971.1_Missense_Mutation_p.A1189T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000342183.5_Missense_Mutation_p.A114T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1149T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A167T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1141T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1149T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1141T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1149	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A114S(1)|p.A1189S(1)|p.A1190S(1)|p.A1149S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTCTGTCTGCTCGTGTACTG	0.463																																						dbGAP											4	Substitution - Missense(4)	lung(4)											136.0	122.0	127.0					2																	50464028		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3445G>A	2.37:g.50464028C>T	ENSP00000384311:p.Ala1149Thr		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A1141T	ENST00000406316.2	37	c.3421	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803429	0.50315	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.78816	0.94;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.64402	U	0.000014	T	0.74854	0.3771	N	0.21194	0.64	0.49213	D	0.999766	B;B;P;B	0.52316	0.032;0.112;0.952;0.337	B;B;P;B	0.51016	0.02;0.008;0.656;0.063	T	0.71427	-0.4596	10	0.22109	T	0.4	.	19.4841	0.95022	0.0:1.0:0.0:0.0	.	1189;114;1149;1141	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	T	114;68;167;1189;1149;1141;1149;1190;1141;1149	ENSP00000341184:A114T;ENSP00000385580:A167T;ENSP00000385142:A1189T;ENSP00000384311:A1149T;ENSP00000434015:A1141T;ENSP00000385017:A1149T;ENSP00000385434:A1141T;ENSP00000385681:A1149T	ENSP00000341184:A114T	A	-	1	0	NRXN1	50317532	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.032000	0.57274	2.592000	0.87571	0.650000	0.86243	GCA	NRXN1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	238	0.00	0	C			50464028	50464028	-1	no_errors	ENST00000402717	ensembl	human	known	69_37n	missense	150	25.74	52	SNP	1.000	T
OR13C8	138802	genome.wustl.edu	37	9	107331659	107331659	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr9:107331659G>A	ENST00000335040.1	+	1	211	c.211G>A	c.(211-213)Gtt>Att	p.V71I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CTTCCTCGACGTTTGCTACAC	0.428																																						dbGAP											0													274.0	257.0	263.0					9																	107331659		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.211G>A	9.37:g.107331659G>A	ENSP00000334068:p.Val71Ile		Q5VVG0|Q96R44	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V71I	ENST00000335040.1	37	c.211	CCDS35090.1	9	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.752740	0.00663	.	.	ENSG00000186943	ENST00000335040	T	0.01335	5.0	5.18	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.102994	0.42821	N	0.000659	T	0.00412	0.0013	N	0.00119	-2.075	0.24293	N	0.995153	B	0.06786	0.001	B	0.01281	0.0	T	0.44360	-0.9333	10	0.02654	T	1	.	9.2577	0.37593	0.9132:0.0:0.0868:0.0	.	71	Q8NGS7	O13C8_HUMAN	I	71	ENSP00000334068:V71I	ENSP00000334068:V71I	V	+	1	0	OR13C8	106371480	0.000000	0.05858	1.000000	0.80357	0.143000	0.21401	-0.143000	0.10296	1.085000	0.41206	-0.290000	0.09829	GTT	OR13C8	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000186943		0.428	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	HGNC	protein_coding	OTTHUMT00000053480.1	930	0.11	1	G			107331659	107331659	+1	no_errors	ENST00000335040	ensembl	human	known	69_37n	missense	174	55.38	216	SNP	0.999	A
PCED1B	91523	genome.wustl.edu	37	12	47630075	47630075	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr12:47630075C>T	ENST00000546455.1	+	4	1960	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	PCED1B_ENST00000432328.1_Missense_Mutation_p.T410M|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	410	Pro-rich.						hydrolase activity (GO:0016787)										GGCCCCTATACGCCCTGGGGA	0.592																																						dbGAP											0													48.0	45.0	46.0					12																	47630075		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1229C>T	12.37:g.47630075C>T	ENSP00000446688:p.Thr410Met		Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.T410M	ENST00000546455.1	37	c.1229	CCDS8752.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.391|5.391	0.257386|0.257386	0.10239|0.10239	.|.	.|.	ENSG00000179715|ENSG00000179715	ENST00000330951|ENST00000546455;ENST00000432328	.|T;T	.|0.29655	.|1.56;1.56	3.91|3.91	-7.82|-7.82	0.01205|0.01205	.|.	.|4.244010	.|0.01075	.|N	.|0.004885	T|T	0.12220|0.12220	0.0297|0.0297	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.01281	.|0.0	T|T	0.21586|0.21586	-1.0241|-1.0241	6|10	0.87932|0.36615	D|T	0|0.2	5.7257|5.7257	5.1502|5.1502	0.15005|0.15005	0.0972:0.3685:0.3888:0.1455|0.0972:0.3685:0.3888:0.1455	.|.	.|410	.|Q96HM7	.|F113B_HUMAN	C|M	254|410	.|ENSP00000446688:T410M;ENSP00000396040:T410M	ENSP00000328560:R254C|ENSP00000396040:T410M	R|T	+|+	1|2	0|0	FAM113B|FAM113B	45916342|45916342	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-5.415000|-5.415000	0.00124|0.00124	-3.459000|-3.459000	0.00159|0.00159	-1.475000|-1.475000	0.01000|0.01000	CGC|ACG	PCED1B	-	NULL	ENSG00000179715		0.592	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	72	0.00	0	C	NM_138371		47630075	47630075	+1	no_errors	ENST00000432328	ensembl	human	known	69_37n	missense	34	50.72	35	SNP	0.000	T
PLCG1	5335	genome.wustl.edu	37	20	39802848	39802848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr20:39802848C>T	ENST00000373271.1	+	31	4132	c.3727C>T	c.(3727-3729)Cga>Tga	p.R1243*	PLCG1_ENST00000373272.2_Nonsense_Mutation_p.R1244*|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Nonsense_Mutation_p.R1244*	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1243					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.R1244*(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTTTCATGGCCGAGCCCGGGA	0.597																																						dbGAP											1	Substitution - Nonsense(1)	endometrium(1)											60.0	64.0	62.0					20																	39802848		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3727C>T	20.37:g.39802848C>T	ENSP00000362368:p.Arg1243*		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.R1244*	ENST00000373271.1	37	c.3730	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	C	43	10.455189	0.99408	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	.	.	.	5.46	4.5	0.54988	.	0.203793	0.39083	N	0.001464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	8.0898	0.30795	0.3008:0.6247:0.0:0.0745	.	.	.	.	X	1244;1243;1244	.	ENSP00000244007:R1244X	R	+	1	2	PLCG1	39236262	0.992000	0.36948	1.000000	0.80357	0.812000	0.45895	1.313000	0.33585	1.287000	0.44583	0.455000	0.32223	CGA	PLCG1	-	pirsf_PLC-gamma	ENSG00000124181		0.597	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	70	0.00	0	C	NM_182811		39802848	39802848	+1	no_errors	ENST00000244007	ensembl	human	known	69_37n	nonsense	50	25.37	17	SNP	0.999	T
PLD4	122618	genome.wustl.edu	37	14	105396393	105396393	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr14:105396393delG	ENST00000392593.4	+	6	836	c.668delG	c.(667-669)cggfs	p.R223fs	PLD4_ENST00000540372.1_Frame_Shift_Del_p.R230fs|PLD4_ENST00000553861.1_5'Flank	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	223	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GTGGATGGACGGCACATATAC	0.602																																						dbGAP											0													81.0	86.0	85.0					14																	105396393		2091	4219	6310	-	-	-	SO:0001589	frameshift_variant	0				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.668delG	14.37:g.105396393delG	ENSP00000376372:p.Arg223fs		Q6UWD2	Frame_Shift_Del	DEL	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.H224fs	ENST00000392593.4	37	c.668	CCDS9995.2	14																																																																																			PLD4	-	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	ENSG00000166428		0.602	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	HGNC	protein_coding	OTTHUMT00000291348.2	159	0.00	0	G	NM_138790		105396393	105396393	+1	no_errors	ENST00000392593	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	0.765	-
PLXND1	23129	genome.wustl.edu	37	3	129303234	129303235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr3:129303234_129303235insG	ENST00000324093.4	-	6	2200_2201	c.2022_2023insC	c.(2020-2025)cccaacfs	p.N675fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.N675fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	675					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TTACCCTGGTTGGGGGGGAAGG	0.639																																					Ovarian(97;366 1484 3738 22084 39045)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2023dupC	3.37:g.129303241_129303241dupG	ENSP00000317128:p.Asn675fs		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.N674fs	ENST00000324093.4	37	c.2023_2022	CCDS33854.1	3																																																																																			PLXND1	-	NULL	ENSG00000004399		0.639	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	44	0.00	0	-	NM_015103		129303234	129303235	-1	no_errors	ENST00000324093	ensembl	human	known	69_37n	frame_shift_ins	24	14.29	4	INS	0.000:0.000	G
PTPRCAP	5790	genome.wustl.edu	37	11	67203502	67203502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr11:67203502delT	ENST00000326294.3	-	2	770	c.323delA	c.(322-324)gagfs	p.E108fs	AP003419.16_ENST00000535922.1_RNA|CORO1B_ENST00000539724.1_5'Flank	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	108					defense response (GO:0006952)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTGCTCATCCTCCTGTCGCTC	0.677																																						dbGAP											0													71.0	54.0	60.0					11																	67203502		2199	4294	6493	-	-	-	SO:0001589	frameshift_variant	0				CCDS8163.1	11q13.2	2011-06-09			ENSG00000213402	ENSG00000213402			9667	protein-coding gene	gene with protein product		601577					Standard	NM_005608		Approved	LPAP, CD45-AP	uc001oli.1	Q14761	OTTHUMG00000150325	ENST00000326294.3:c.323delA	11.37:g.67203502delT	ENSP00000325589:p.Glu108fs		B2R512|O00643|Q6I9S6	Frame_Shift_Del	DEL	pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP	p.E108fs	ENST00000326294.3	37	c.323	CCDS8163.1	11																																																																																			PTPRCAP	-	pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP	ENSG00000213402		0.677	PTPRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRCAP	HGNC	protein_coding	OTTHUMT00000317563.1	68	0.00	0	T	NM_005608		67203502	67203502	-1	no_errors	ENST00000326294	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.876	-
QSOX2	169714	genome.wustl.edu	37	9	139110971	139110971	+	Silent	SNP	C	C	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr9:139110971C>T	ENST00000358701.5	-	7	898	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	287					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCGGCAATGACTTCAAATAAG	0.453																																						dbGAP											0													72.0	76.0	74.0					9																	139110971		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.861G>A	9.37:g.139110971C>T			A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	pfam_Evr1_Alr,superfamily_Evr1_Alr	p.V55I	ENST00000358701.5	37	c.163	CCDS35178.1	9	.	.	.	.	.	.	.	.	.	.	C	1.193	-0.634762	0.03584	.	.	ENSG00000165661	ENST00000455222	.	.	.	4.61	3.69	0.42338	.	.	.	.	.	T	0.61949	0.2388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59139	-0.7510	4	.	.	.	-25.3991	11.1095	0.48223	0.0:0.9071:0.0:0.0929	.	.	.	.	I	55	.	.	V	-	1	0	QSOX2	138250792	1.000000	0.71417	0.977000	0.42913	0.041000	0.13682	2.463000	0.45058	1.029000	0.39812	0.313000	0.20887	GTC	QSOX2	-	NULL	ENSG00000165661		0.453	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX2	HGNC	protein_coding	OTTHUMT00000055046.2	215	0.00	0	C	NM_181701		139110971	139110971	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000455222	ensembl	human	novel	69_37n	missense	31	34.04	16	SNP	1.000	T
RB1	5925	genome.wustl.edu	37	13	48955538	48955538	+	Nonsense_Mutation	SNP	C	C	T	rs121913303		TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr13:48955538C>T	ENST00000267163.4	+	17	1792	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R552*(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACATTTAGAACGATGTGAACA	0.323	R552*(NCIH1048_LUNG)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	28	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(5)	bone(11)|breast(5)|eye(4)|central_nervous_system(3)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	GRCh37	CM961229	RB1	M	rs121913303						85.0	79.0	81.0					13																	48955538		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1654C>T	13.37:g.48955538C>T	ENSP00000267163:p.Arg552*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.R552*	ENST00000267163.4	37	c.1654	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	38	7.055045	0.98032	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	1.21	0.21127	.	0.199610	0.42548	D	0.000698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4955	0.38986	0.5195:0.4131:0.0:0.0674	.	.	.	.	X	531;552	.	ENSP00000267163:R552X	R	+	1	2	RB1	47853539	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	1.565000	0.36386	-0.113000	0.11958	0.650000	0.86243	CGA	RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	177	0.00	0	C			48955538	48955538	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	nonsense	41	68.70	90	SNP	1.000	T
RFX1	5989	genome.wustl.edu	37	19	14073674	14073674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr19:14073674C>A	ENST00000254325.4	-	21	3007	c.2773G>T	c.(2773-2775)Gag>Tag	p.E925*		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	925	Asp/Glu-rich (acidic).|Necessary for dimerization.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tcttcctcctcgtcTGGAACA	0.721																																						dbGAP											0													5.0	4.0	4.0					19																	14073674		1913	3768	5681	-	-	-	SO:0001587	stop_gained	0				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2773G>T	19.37:g.14073674C>A	ENSP00000254325:p.Glu925*			Nonsense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.E925*	ENST00000254325.4	37	c.2773	CCDS12301.1	19	.	.	.	.	.	.	.	.	.	.	c	41	8.827438	0.98968	.	.	ENSG00000132005	ENST00000254325	.	.	.	4.77	3.71	0.42584	.	0.129089	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.0983	13.0955	0.59188	0.1625:0.8375:0.0:0.0	.	.	.	.	X	925	.	ENSP00000254325:E925X	E	-	1	0	RFX1	13934674	.	.	0.953000	0.39169	0.651000	0.38670	.	.	0.974000	0.38366	0.430000	0.28490	GAG	RFX1	-	NULL	ENSG00000132005		0.721	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	12	0.00	0	C	NM_002918		14073674	14073674	-1	no_errors	ENST00000254325	ensembl	human	known	69_37n	nonsense	3	62.50	5	SNP	1.000	A
RIPK1	8737	genome.wustl.edu	37	6	3077011	3077012	+	5'UTR	INS	-	-	G	rs375497021|rs202096237|rs368197023	byFrequency	TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr6:3077011_3077012insG	ENST00000259808.4	+	0	252_253				RIPK1_ENST00000380409.2_5'Flank|RIPK1_ENST00000541791.1_5'Flank|RIPK1_ENST00000479389.1_Intron			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACAGCTCTGCCGGGGGGGGAAA	0.391																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.-46->G	6.37:g.3077019_3077019dupG			A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	RNA	INS	-	NULL	ENST00000259808.4	37	NULL	CCDS4482.1	6																																																																																			RIPK1	-	-	ENSG00000137275		0.391	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	50	0.00	0	-	NM_003804		3077011	3077012	+1	no_errors	ENST00000490396	ensembl	human	known	69_37n	rna	90	10.89	11	INS	0.000:0.000	G
RREB1	6239	genome.wustl.edu	37	6	7211929	7211929	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr6:7211929G>A	ENST00000349384.6	+	8	1008	c.694G>A	c.(694-696)Gat>Aat	p.D232N	RREB1_ENST00000334984.6_Missense_Mutation_p.D232N|RREB1_ENST00000379938.2_Missense_Mutation_p.D232N|RREB1_ENST00000379933.3_Missense_Mutation_p.D232N	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	232					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GACCCATTCAGATAACCCACT	0.458																																						dbGAP											0													94.0	85.0	88.0					6																	7211929		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.694G>A	6.37:g.7211929G>A	ENSP00000305560:p.Asp232Asn		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D232N	ENST00000349384.6	37	c.694	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978959	0.74360	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	6.06	5.19	0.71726	Zinc finger, C2H2 (1);	0.089021	0.47455	D	0.000232	T	0.40886	0.1135	M	0.64997	1.995	0.51767	D	0.999935	B;B;D	0.67145	0.171;0.283;0.996	B;B;P	0.61658	0.166;0.08;0.892	T	0.44802	-0.9304	10	0.87932	D	0	-22.7184	15.8271	0.78718	0.0:0.0:0.863:0.137	.	232;232;232	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	N	232	ENSP00000369265:D232N;ENSP00000369270:D232N;ENSP00000305560:D232N;ENSP00000335574:D232N;ENSP00000419511:D232N	ENSP00000335574:D232N	D	+	1	0	RREB1	7156928	1.000000	0.71417	0.972000	0.41901	0.976000	0.68499	5.442000	0.66575	1.572000	0.49736	0.655000	0.94253	GAT	RREB1	-	pfscan_Znf_C2H2	ENSG00000124782		0.458	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	201	0.00	0	G			7211929	7211929	+1	no_errors	ENST00000379938	ensembl	human	known	69_37n	missense	125	18.83	29	SNP	0.999	A
SETDB1	9869	genome.wustl.edu	37	1	150917623	150917624	+	Intron	INS	-	-	G	rs587715611|rs587751384|rs186820437	byFrequency	TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr1:150917623_150917624insG	ENST00000271640.5	+	9	1330				SETDB1_ENST00000368962.2_Frame_Shift_Ins_p.G394fs|SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGGTTGGTGGGGGGGGAAC	0.475																																						dbGAP											0									,	53,4213		1,51,2081					,	-6.3	0.0			32	26,8228		0,26,4101	no	intron,intron	SETDB1	NM_012432.3,NM_001145415.1	,	1,77,6182	A1A1,A1R,RR		0.315,1.2424,0.631	,	,		79,12441				-	-	-	SO:0001627	intron_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1140+39->G	1.37:g.150917631_150917631dupG			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	smart_Tudor	p.T396fs	ENST00000271640.5	37	c.1179_1180	CCDS44217.1	1																																																																																			SETDB1	-	NULL	ENSG00000143379		0.475	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	170	0.00	0	-			150917623	150917624	+1	no_errors	ENST00000368962	ensembl	human	known	69_37n	frame_shift_ins	203	10.57	24	INS	0.000:0.000	G
SFMBT1	51460	genome.wustl.edu	37	3	52977509	52977509	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr3:52977509G>A	ENST00000394752.3	-	4	606	c.224C>T	c.(223-225)aCc>aTc	p.T75I	SFMBT1_ENST00000358080.2_Missense_Mutation_p.T75I|SFMBT1_ENST00000394750.1_Missense_Mutation_p.T75I|SFMBT1_ENST00000296295.6_Missense_Mutation_p.T75I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	75					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGCTCACAGGTAGTGATAAC	0.527																																						dbGAP											0													118.0	90.0	100.0					3																	52977509		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.224C>T	3.37:g.52977509G>A	ENSP00000378235:p.Thr75Ile		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.T75I	ENST00000394752.3	37	c.224	CCDS2867.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524017	0.85600	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750;ENST00000482396;ENST00000483069	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.64	5.64	0.86602	.	0.106869	0.64402	D	0.000005	T	0.35998	0.0951	L	0.33668	1.02	0.80722	D	1	B;P	0.50710	0.099;0.938	B;P	0.59643	0.091;0.861	T	0.02053	-1.1222	10	0.10111	T	0.7	.	19.7023	0.96060	0.0:0.0:1.0:0.0	.	75;75	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	I	75	ENSP00000378235:T75I;ENSP00000350789:T75I;ENSP00000296295:T75I;ENSP00000378233:T75I;ENSP00000418860:T75I;ENSP00000418950:T75I	ENSP00000296295:T75I	T	-	2	0	SFMBT1	52952549	1.000000	0.71417	0.965000	0.40720	0.813000	0.45954	9.429000	0.97481	2.644000	0.89710	0.650000	0.86243	ACC	SFMBT1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000163935		0.527	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	155	0.64	1	G	NM_016329		52977509	52977509	-1	no_errors	ENST00000358080	ensembl	human	known	69_37n	missense	100	30.07	43	SNP	1.000	A
SH2B1	25970	genome.wustl.edu	37	16	28878058	28878058	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr16:28878058A>G	ENST00000322610.8	+	4	1082	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	SH2B1_ENST00000395532.4_Missense_Mutation_p.S215G|SH2B1_ENST00000337120.5_Missense_Mutation_p.S215G|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.S215G|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	215	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGGACTGGTCAGTGATGGAAC	0.627																																						dbGAP											0													41.0	42.0	42.0					16																	28878058		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.643A>G	16.37:g.28878058A>G	ENSP00000321221:p.Ser215Gly		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2	p.S215G	ENST00000322610.8	37	c.643	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	A	2.476	-0.320790	0.05386	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	3.95	2.36	0.29203	.	0.262703	0.27478	N	0.019195	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13388	-1.0511	10	0.23891	T	0.37	-24.1432	5.3183	0.15868	0.8163:0.0:0.1837:0.0	.	215;215;215	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	G	215	ENSP00000321221:S215G;ENSP00000352232:S215G;ENSP00000378903:S215G;ENSP00000337163:S215G	ENSP00000321221:S215G	S	+	1	0	SH2B1	28785559	0.106000	0.21978	0.153000	0.22517	0.248000	0.25809	0.456000	0.21859	0.537000	0.28751	0.374000	0.22700	AGT	SH2B1	-	NULL	ENSG00000178188		0.627	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	90	0.00	0	A	NM_015503		28878058	28878058	+1	no_errors	ENST00000322610	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	0.006	G
SIGLEC1	6614	genome.wustl.edu	37	20	3683872	3683872	+	Silent	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr20:3683872G>A	ENST00000344754.4	-	5	1199	c.1200C>T	c.(1198-1200)cgC>cgT	p.R400R	SIGLEC1_ENST00000202578.4_Silent_p.R400R	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	400	Ig-like C2-type 3.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CAGGGCCCGAGCGCTCGCTGC	0.617																																						dbGAP											0													88.0	75.0	80.0					20																	3683872		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1200C>T	20.37:g.3683872G>A			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R400	ENST00000344754.4	37	c.1200	CCDS13060.1	20																																																																																			SIGLEC1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000088827		0.617	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	79	0.00	0	G	NM_023068		3683872	3683872	-1	no_errors	ENST00000344754	ensembl	human	known	69_37n	silent	42	32.26	20	SNP	0.635	A
STRN	6801	genome.wustl.edu	37	2	37085129	37085129	+	Silent	SNP	C	C	T	rs200352248	byFrequency	TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:37085129C>T	ENST00000263918.4	-	14	1715	c.1707G>A	c.(1705-1707)acG>acA	p.T569T	STRN_ENST00000379213.2_Silent_p.T520T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	569					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				AGACTGCATCCGTGTGGCCTA	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		14231	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													52.0	49.0	50.0					2																	37085129		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1707G>A	2.37:g.37085129C>T			Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T569	ENST00000263918.4	37	c.1707	CCDS1784.1	2																																																																																			STRN	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000115808		0.443	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	HGNC	protein_coding	OTTHUMT00000218568.1	130	0.00	0	C			37085129	37085129	-1	no_errors	ENST00000263918	ensembl	human	known	69_37n	silent	125	22.36	36	SNP	0.070	T
SUOX	6821	genome.wustl.edu	37	12	56397811	56397813	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr12:56397811_56397813delTCT	ENST00000394109.3	+	3	1362_1364	c.638_640delTCT	c.(637-642)atcttc>atc	p.F215del	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000356124.4_In_Frame_Del_p.F215del|SUOX_ENST00000266971.3_In_Frame_Del_p.F215del|SUOX_ENST00000394115.2_In_Frame_Del_p.F215del|SUOX_ENST00000548274.1_In_Frame_Del_p.F215del			P51687	SUOX_HUMAN	sulfite oxidase	215	Moco domain. {ECO:0000250}.|Molybdopterin-binding. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CCCAACCCTATCTTCTTCACCCG	0.552																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.638_640delTCT	12.37:g.56397814_56397816delTCT	ENSP00000377668:p.Phe215del			In_Frame_Del	DEL	pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5	p.F215in_frame_del	ENST00000394109.3	37	c.638_640	CCDS8901.2	12																																																																																			SUOX	-	superfamily_OxRdtase_Mopterin-bd_dom,prints_Mopterin_OxRdtase_euk	ENSG00000139531		0.552	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUOX	HGNC	protein_coding	OTTHUMT00000250309.1	410	0.00	0	TCT	NM_000456		56397811	56397813	+1	no_errors	ENST00000266971	ensembl	human	known	69_37n	in_frame_del	118	15.00	21	DEL	1.000:0.991:1.000	-
TATDN1	83940	genome.wustl.edu	37	8	125506171	125506171	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr8:125506171G>A	ENST00000276692.6	-	11	731	c.694C>T	c.(694-696)Cat>Tat	p.H232Y	TATDN1_ENST00000521546.1_5'Flank|RP11-158K1.3_ENST00000518639.1_RNA|TATDN1_ENST00000517678.1_Missense_Mutation_p.H178Y|TATDN1_ENST00000519548.1_Missense_Mutation_p.H185Y	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	232					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GATCCAGCATGTGTACTTTTG	0.353																																						dbGAP											0													118.0	111.0	114.0					8																	125506171		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.694C>T	8.37:g.125506171G>A	ENSP00000276692:p.His232Tyr		B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	pfam_TatD_superfamily,pirsf_DNase_TatD	p.H232Y	ENST00000276692.6	37	c.694	CCDS6351.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.061127	0.93846	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.71674	0.995;0.998	D;P	0.67382	0.951;0.86	D	0.87188	0.2232	9	0.87932	D	0	-27.4588	19.7768	0.96398	0.0:0.0:1.0:0.0	.	268;232	E5RG17;Q6P1N9	.;TATD1_HUMAN	Y	232;185;268;178	.	ENSP00000276692:H232Y	H	-	1	0	TATDN1	125575352	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.444000	0.97578	2.698000	0.92095	0.650000	0.86243	CAT	TATDN1	-	pfam_TatD_superfamily,pirsf_DNase_TatD	ENSG00000147687		0.353	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN1	HGNC	protein_coding	OTTHUMT00000381655.1	485	0.00	0	G	NM_032026		125506171	125506171	-1	no_errors	ENST00000276692	ensembl	human	known	69_37n	missense	404	11.96	55	SNP	1.000	A
TEKT2	27285	genome.wustl.edu	37	1	36553575	36553575	+	Splice_Site	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr1:36553575G>A	ENST00000207457.3	+	10	1208	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	361					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTCCCTAGGGACGCACTGGA	0.642																																						dbGAP											0													35.0	27.0	30.0					1																	36553575		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1080-1G>A	1.37:g.36553575G>A			A6NIS6|O60638	Missense_Mutation	SNP	pfam_Tektin,superfamily_Prefoldin,prints_Tektin	p.D361N	ENST00000207457.3	37	c.1081	CCDS401.1	1	.	.	.	.	.	.	.	.	.	.	G	1.439	-0.568086	0.03910	.	.	ENSG00000092850	ENST00000207457	T	0.02421	4.3	4.57	2.55	0.30701	.	0.457133	0.24224	N	0.040417	T	0.01730	0.0055	N	0.13327	0.33	0.25108	N	0.990738	B	0.02656	0.0	B	0.06405	0.002	T	0.48445	-0.9035	10	0.17369	T	0.5	.	6.5523	0.22442	0.1656:0.1474:0.687:0.0	.	361	Q9UIF3	TEKT2_HUMAN	N	361	ENSP00000207457:D361N	ENSP00000207457:D361N	D	+	1	0	TEKT2	36326162	1.000000	0.71417	0.918000	0.36340	0.505000	0.33919	1.736000	0.38187	0.863000	0.35553	0.462000	0.41574	GAC	TEKT2	-	pfam_Tektin,superfamily_Prefoldin	ENSG00000092850		0.642	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	HGNC	protein_coding	OTTHUMT00000020200.1	26	0.00	0	G	NM_014466	Missense_Mutation	36553575	36553575	+1	no_errors	ENST00000207457	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.997	A
TOP3A	7156	genome.wustl.edu	37	17	18181544	18181545	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr17:18181544_18181545insG	ENST00000321105.5	-	18	2485_2486	c.2271_2272insC	c.(2269-2274)cccaggfs	p.R758fs	TOP3A_ENST00000540524.1_Frame_Shift_Ins_p.R288fs|TOP3A_ENST00000542570.1_Frame_Shift_Ins_p.R663fs	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	758					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TGGCTAGCCCTGGGGGGGCCCC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2272dupC	17.37:g.18181551_18181551dupG	ENSP00000321636:p.Arg758fs		A8KA61|B4DK80|D3DXC7|Q13473	Frame_Shift_Ins	INS	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.R757fs	ENST00000321105.5	37	c.2272_2271	CCDS11194.1	17																																																																																			TOP3A	-	NULL	ENSG00000177302		0.639	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	49	0.00	0	-			18181544	18181545	-1	no_errors	ENST00000321105	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	0.001:0.001	G
TP53	7157	genome.wustl.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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"""	159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM070299	TP53	M							51.0	51.0	51.0					17																	7578413		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.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met		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.V173M	ENST00000269305.4	37	c.517	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	111	0.00	0	C	NM_000546		7578413	7578413	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	26	84.15	138	SNP	0.996	T
TSC22D1	8848	genome.wustl.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	TGT	-	rs148625973|rs541782956	byFrequency	TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr13:45148691_45148693delTGT	ENST00000458659.2	-	1	2008_2010	c.1518_1520delACA	c.(1516-1521)caacag>cag	p.506_507QQ>Q	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_In_Frame_Del_p.506_507QQ>Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	506	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502														87	0.0173722	0.0598	0.0086	5008	,	,		24285	0.0		0.0	False		,,,				2504	0.002					dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1518_1520delACA	13.37:g.45148700_45148702delTGT	ENSP00000397435:p.Gln509del		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	pfam_TSC-22_Dip_Bun	p.Q509in_frame_del	ENST00000458659.2	37	c.1520_1518	CCDS31966.1	13																																																																																			TSC22D1	-	NULL	ENSG00000102804		0.502	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	68	0.00	0	TGT	NM_006022		45148691	45148693	-1	no_errors	ENST00000458659	ensembl	human	known	69_37n	in_frame_del	17	10.53	2	DEL	0.003:0.003:0.004	-
TTC22	55001	genome.wustl.edu	37	1	55253434	55253434	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr1:55253434G>A	ENST00000371276.4	-	3	792	c.689C>T	c.(688-690)aCg>aTg	p.T230M	TTC22_ENST00000371274.4_Missense_Mutation_p.T230M	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	230										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TAGGGCCAGCGTGCGGTTGAA	0.657																																						dbGAP											0													62.0	54.0	57.0					1																	55253434		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.689C>T	1.37:g.55253434G>A	ENSP00000360323:p.Thr230Met		Q9NWT4	Missense_Mutation	SNP	smart_TPR_repeat	p.T230M	ENST00000371276.4	37	c.689	CCDS44152.1	1	.	.	.	.	.	.	.	.	.	.	G	9.971	1.225556	0.22457	.	.	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	T;T	0.46819	0.86;2.29	4.49	4.49	0.54785	Tetratricopeptide-like helical (1);	0.129448	0.52532	D	0.000066	T	0.47002	0.1422	N	0.17082	0.46	0.44295	D	0.997168	D;B	0.76494	0.999;0.291	P;B	0.58520	0.84;0.08	T	0.47774	-0.9091	10	0.44086	T	0.13	-31.367	14.2224	0.65836	0.0:0.0:1.0:0.0	.	230;230	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	M	230;230;11	ENSP00000360323:T230M;ENSP00000360321:T230M	ENSP00000360321:T230M	T	-	2	0	TTC22	55026022	1.000000	0.71417	0.933000	0.37362	0.085000	0.17905	5.353000	0.66034	2.328000	0.79073	0.462000	0.41574	ACG	TTC22	-	NULL	ENSG00000006555		0.657	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TTC22	HGNC	protein_coding	OTTHUMT00000027438.1	86	0.00	0	G	NM_017904		55253434	55253434	-1	no_errors	ENST00000371276	ensembl	human	known	69_37n	missense	120	20.53	31	SNP	0.976	A
VWA3B	200403	genome.wustl.edu	37	2	98928506	98928507	+	Intron	INS	-	-	G	rs374561862|rs550251243	byFrequency	TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr2:98928506_98928507insG	ENST00000477737.1	+	27	3939				VWA3B_ENST00000490947.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTTTGGGTGATGGGGGGGGAAC	0.594													GGGGGGG|GGGGGGGG|GGGGGGGGG|cryptic_indel	5	0.000998403	0.0023	0.0	5008	,	,		17671	0.002		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3735+11->G	2.37:g.98928514_98928514dupG			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Frame_Shift_Ins	INS	pfscan_VWF_A	p.T662fs	ENST00000477737.1	37	c.1977_1978	CCDS42718.1	2																																																																																			VWA3B	-	NULL	ENSG00000168658		0.594	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	30	0.00	0	-	NM_144992		98928506	98928507	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000473149	ensembl	human	putative	69_37n	frame_shift_ins	37	13.95	6	INS	0.000:0.004	G
WDR5	11091	genome.wustl.edu	37	9	137019597	137019598	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr9:137019597_137019598insC	ENST00000358625.3	+	10	812_813	c.641_642insC	c.(640-645)aaccccfs	p.NP214fs	WDR5_ENST00000425041.1_Frame_Shift_Ins_p.NP214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	214					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GATGACGACAACCCCCCCGTGT	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.648dupC	9.37:g.137019604_137019604dupC	ENSP00000351446:p.Asn214fs		Q91VA5|Q9NWX7|Q9UGP9	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V217fs	ENST00000358625.3	37	c.641_642	CCDS6981.1	9																																																																																			WDR5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000196363		0.624	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR5	HGNC	protein_coding	OTTHUMT00000254621.1	228	0.00	0	-	NM_052821		137019597	137019598	+1	no_errors	ENST00000358625	ensembl	human	known	69_37n	frame_shift_ins	54	10.00	6	INS	1.000:1.000	C
ZNF33A	7581	genome.wustl.edu	37	10	38343498	38343498	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr10:38343498T>C	ENST00000458705.2	+	5	601	c.443T>C	c.(442-444)tTc>tCc	p.F148S	ZNF33A_ENST00000432900.2_Missense_Mutation_p.F155S|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.F149S|ZNF33A_ENST00000307441.9_Missense_Mutation_p.F148S			Q06730	ZN33A_HUMAN	zinc finger protein 33A	148					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGAATGAGTTTCAACACTGTT	0.323																																						dbGAP											0													80.0	79.0	79.0					10																	38343498		2203	4298	6501	-	-	-	SO:0001583	missense	0			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.443T>C	10.37:g.38343498T>C	ENSP00000387713:p.Phe148Ser		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	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.F155S	ENST00000458705.2	37	c.464	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	T	4.631	0.117316	0.08881	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	2.26	2.26	0.28386	.	0.917456	0.08972	N	0.867050	T	0.32071	0.0817	L	0.34521	1.04	0.09310	N	1	B;B;B	0.21071	0.041;0.024;0.051	B;B;B	0.16289	0.011;0.005;0.015	T	0.29882	-0.9997	10	0.87932	D	0	.	8.0427	0.30532	0.0:0.0:0.0:1.0	.	155;148;149	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	S	149;155;148;148	ENSP00000363747:F149S;ENSP00000402467:F155S;ENSP00000387713:F148S;ENSP00000304268:F148S	ENSP00000304268:F148S	F	+	2	0	ZNF33A	38383504	0.318000	0.24598	0.830000	0.32933	0.229000	0.25112	0.989000	0.29629	1.021000	0.39600	0.377000	0.23210	TTC	ZNF33A	-	NULL	ENSG00000189180		0.323	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	145	0.00	0	T	NM_006974		38343498	38343498	+1	no_errors	ENST00000432900	ensembl	human	known	69_37n	missense	86	33.85	44	SNP	0.027	C
ZNF501	115560	genome.wustl.edu	37	3	44776097	44776097	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FY-01A-11W-A050-09	TCGA-AN-A0FY-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a6a8bd08-0e60-442d-adce-de020177f82c	aa5cbdd2-e1f7-4d59-962a-3362278d401a	g.chr3:44776097C>A	ENST00000396048.2	+	3	621	c.184C>A	c.(184-186)Cag>Aag	p.Q62K		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	62					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(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TTTCCGTAAACAGTCAAATCT	0.393																																						dbGAP											0													93.0	105.0	101.0					3																	44776097		2186	4292	6478	-	-	-	SO:0001583	missense	0			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.184C>A	3.37:g.44776097C>A	ENSP00000379363:p.Gln62Lys		B4DLY7|Q96NU9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q62K	ENST00000396048.2	37	c.184	CCDS2720.2	3	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088442	0.36855	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.35421	1.31	2.37	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	N	0.00358	-1.6	0.09310	N	1	B;B	0.20988	0.05;0.03	B;B	0.17722	0.019;0.008	T	0.17167	-1.0378	9	0.35671	T	0.21	.	9.3606	0.38192	0.0:0.778:0.222:0.0	.	62;62	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	K	62	ENSP00000379363:Q62K	ENSP00000330388:Q62K	Q	+	1	0	ZNF501	44751101	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.207000	0.09384	1.621000	0.50320	0.563000	0.77884	CAG	ZNF501	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186446		0.393	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF501	HGNC	protein_coding	OTTHUMT00000256654.4	346	0.00	0	C	NM_145044		44776097	44776097	+1	no_errors	ENST00000396048	ensembl	human	known	69_37n	missense	213	27.55	81	SNP	0.006	A
