#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
A2ML1	144568	genome.wustl.edu	37	12	8998791	8998791	+	Silent	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr12:8998791C>T	ENST00000299698.7	+	14	1836	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Silent_p.F61F	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AAATTCAGTTCTCAGTCGAGA	0.468																																						dbGAP											0													143.0	124.0	130.0					12																	8998791		1910	4130	6040	-	-	-	SO:0001819	synonymous_variant	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1656C>T	12.37:g.8998791C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.F552	ENST00000299698.7	37	c.1656	CCDS8596.2	12																																																																																			A2ML1	-	pfam_A2M_N_2	ENSG00000166535		0.468	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	254	0.00	0	C	NM_144670		8998791	8998791	+1	no_errors	ENST00000299698	ensembl	human	known	69_37n	silent	236	28.48	94	SNP	0.669	T
ALG11	440138	genome.wustl.edu	37	13	52598472	52598472	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr13:52598472C>G	ENST00000521508.1	+	3	611	c.606C>G	c.(604-606)atC>atG	p.I202M	ALG11_ENST00000523764.1_Intron|UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	202					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		ATCCTACTATCAGCACCGACA	0.383																																						dbGAP											0													131.0	127.0	128.0					13																	52598472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.606C>G	13.37:g.52598472C>G	ENSP00000430236:p.Ile202Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.I202M	ENST00000521508.1	37	c.606	CCDS31977.1	13	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246345	0.59103	.	.	ENSG00000253710	ENST00000521508	T	0.79749	-1.3	6.16	3.49	0.39957	.	0.058266	0.64402	U	0.000002	D	0.89612	0.6765	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.88738	0.3241	10	0.87932	D	0	.	8.9896	0.36014	0.1223:0.751:0.0:0.1267	.	202	Q2TAA5	ALG11_HUMAN	M	202	ENSP00000430236:I202M	ENSP00000430236:I202M	I	+	3	3	ALG11	51496473	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	2.978000	0.49305	0.464000	0.27142	-0.142000	0.14014	ATC	ALG11	-	NULL	ENSG00000253710		0.383	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG11	HGNC	protein_coding	OTTHUMT00000045050.1	130	0.00	0	C	NM_001004127		52598472	52598472	+1	no_errors	ENST00000521508	ensembl	human	known	69_37n	missense	79	45.14	65	SNP	1.000	G
APBB2	323	genome.wustl.edu	37	4	41015638	41015638	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr4:41015638G>A	ENST00000295974.8	-	6	1426	c.797C>T	c.(796-798)tCc>tTc	p.S266F	APBB2_ENST00000513140.1_Missense_Mutation_p.S266F|APBB2_ENST00000506352.1_Missense_Mutation_p.S266F|APBB2_ENST00000508593.1_Missense_Mutation_p.S266F	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	266					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						ACTGTCTTGGGACAACGTTGT	0.532																																					Ovarian(3;20 75 16686 49997)	dbGAP											0													179.0	178.0	178.0					4																	41015638		2045	4199	6244	-	-	-	SO:0001583	missense	0			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.797C>T	4.37:g.41015638G>A	ENSP00000295974:p.Ser266Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.S266F	ENST00000295974.8	37	c.797	CCDS54761.1	4	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777830	0.70107	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	T;T;T;T	0.24723	1.96;1.86;1.87;1.84	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.998;0.999;0.998	T	0.46693	-0.9173	10	0.72032	D	0.01	-22.8428	20.5948	0.99439	0.0:0.0:1.0:0.0	.	249;266;266;266	B4DJ88;E9PG87;Q92870-2;Q92870	.;.;.;APBB2_HUMAN	F	266;265;266;266;266	ENSP00000295974:S266F;ENSP00000426018:S266F;ENSP00000427211:S266F;ENSP00000421539:S266F	ENSP00000295974:S266F	S	-	2	0	APBB2	40710395	1.000000	0.71417	1.000000	0.80357	0.094000	0.18550	9.827000	0.99397	2.873000	0.98535	0.563000	0.77884	TCC	APBB2	-	NULL	ENSG00000163697		0.532	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	APBB2	HGNC	protein_coding	OTTHUMT00000360523.3	146	0.00	0	G	NM_173075		41015638	41015638	-1	no_errors	ENST00000295974	ensembl	human	known	69_37n	missense	103	27.46	39	SNP	1.000	A
APTX	54840	genome.wustl.edu	37	9	32987552	32987552	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr9:32987552G>C	ENST00000379819.1	-	4	514	c.515C>G	c.(514-516)cCt>cGt	p.P172R	APTX_ENST00000379813.3_Missense_Mutation_p.P158R|APTX_ENST00000463596.1_Missense_Mutation_p.P158R|APTX_ENST00000309615.3_Missense_Mutation_p.P172R|APTX_ENST00000436040.2_Missense_Mutation_p.P158R|APTX_ENST00000379825.2_Missense_Mutation_p.P172R|APTX_ENST00000476858.1_Missense_Mutation_p.P118R|APTX_ENST00000379817.2_Missense_Mutation_p.P158R|APTX_ENST00000468275.1_Missense_Mutation_p.P158R|APTX_ENST00000397172.3_Intron			Q7Z2E3	APTX_HUMAN	aprataxin	172					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		CTTTTTGATAGGTGCATCTTT	0.448								Editing and processing nucleases																														dbGAP											0													121.0	126.0	125.0					9																	32987552		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.515C>G	9.37:g.32987552G>C	ENSP00000369147:p.Pro172Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_Histidine_triad_HIT	p.P172R	ENST00000379819.1	37	c.515		9	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.579351	0.00879	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000379817;ENST00000436040;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000473221;ENST00000477119	D;D;D;T;D;D;D;D;D;D	0.91124	-1.79;-1.79;-1.78;0.99;-1.79;-1.78;-1.78;-2.79;-1.78;-2.33	5.37	5.37	0.77165	.	1.802770	0.01947	N	0.042309	D	0.85256	0.5655	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.23316	0.002;0.083;0.004;0.015	B;B;B;B	0.20955	0.003;0.032;0.004;0.021	T	0.66384	-0.5937	10	0.16420	T	0.52	0.7117	14.4925	0.67660	0.0:0.0:1.0:0.0	.	118;172;104;172	C9JZ40;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;APTX_HUMAN	R	172;172;158;158;172;158;158;118;172;158;118;104	ENSP00000369153:P172R;ENSP00000311547:P172R;ENSP00000369145:P158R;ENSP00000400806:P158R;ENSP00000369147:P172R;ENSP00000420263:P158R;ENSP00000419846:P158R;ENSP00000419042:P118R;ENSP00000369141:P158R;ENSP00000419020:P118R	ENSP00000311547:P172R	P	-	2	0	APTX	32977552	0.004000	0.15560	0.013000	0.15412	0.368000	0.29767	1.430000	0.34914	2.788000	0.95919	0.650000	0.86243	CCT	APTX	-	NULL	ENSG00000137074		0.448	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	APTX	HGNC	protein_coding	OTTHUMT00000052028.2	192	0.00	0	G	NM_017692		32987552	32987552	-1	no_errors	ENST00000379819	ensembl	human	known	69_37n	missense	119	24.20	38	SNP	0.006	C
ARHGEF39	84904	genome.wustl.edu	37	9	35664117	35664117	+	Silent	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr9:35664117G>A	ENST00000378387.3	-	4	478	c.361C>T	c.(361-363)Cta>Tta	p.L121L	ARHGEF39_ENST00000343259.3_Silent_p.L121L|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Silent_p.L85L	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	121	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										TTTTTCTTTAGCTGCTCCTGG	0.522																																						dbGAP											0													63.0	74.0	70.0					9																	35664117		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.361C>T	9.37:g.35664117G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AG0|Q6TPQ2|Q96ST6	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L121	ENST00000378387.3	37	c.361	CCDS6584.2	9																																																																																			ARHGEF39	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000137135		0.522	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF39	HGNC	protein_coding	OTTHUMT00000052330.1	132	0.00	0	G	NM_032818		35664117	35664117	-1	no_errors	ENST00000378387	ensembl	human	known	69_37n	silent	118	19.73	29	SNP	1.000	A
ATXN2L	11273	genome.wustl.edu	37	16	28845927	28845927	+	Silent	SNP	G	G	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr16:28845927G>C	ENST00000336783.4	+	18	2513	c.2346G>C	c.(2344-2346)acG>acC	p.T782T	ATXN2L_ENST00000382686.4_Silent_p.T782T|ATXN2L_ENST00000325215.6_Silent_p.T782T|ATXN2L_ENST00000395547.2_Silent_p.T782T|ATXN2L_ENST00000564304.1_Silent_p.T788T|ATXN2L_ENST00000570200.1_Silent_p.T782T|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000340394.8_Silent_p.T782T|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	782					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGCTGCCACGCCCTATTCTT	0.682																																						dbGAP											0													61.0	72.0	68.0					16																	28845927		2196	4298	6494	-	-	-	SO:0001819	synonymous_variant	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2346G>C	16.37:g.28845927G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.T782	ENST00000336783.4	37	c.2346	CCDS10641.1	16																																																																																			ATXN2L	-	NULL	ENSG00000168488		0.682	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	63	0.00	0	G	NM_007245		28845927	28845927	+1	no_errors	ENST00000395547	ensembl	human	known	69_37n	silent	68	11.54	9	SNP	0.674	C
C12orf36	283422	genome.wustl.edu	37	12	13526168	13526168	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr12:13526168T>G	ENST00000318426.2	-	3	604	c.387A>C	c.(385-387)caA>caC	p.Q129H	C12orf36_ENST00000531049.1_5'Flank|C12orf36_ENST00000527705.2_Missense_Mutation_p.Q129H					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TCTGCTGGCATTGATGCCTCA	0.403																																						dbGAP											0													205.0	191.0	196.0					12																	13526168		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.387A>C	12.37:g.13526168T>G	ENSP00000443007:p.Gln129His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.Q129H	ENST00000318426.2	37	c.387		12	.	.	.	.	.	.	.	.	.	.	T	4.284	0.051827	0.08291	.	.	ENSG00000180861	ENST00000318426;ENST00000527705	T;T	0.27890	1.64;1.64	3.93	-5.17	0.02849	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.09310	N	1	B	0.23249	0.082	B	0.20384	0.029	T	0.26155	-1.0111	8	0.87932	D	0	.	2.5464	0.04738	0.1227:0.3616:0.1251:0.3907	.	129	Q495D7	CL036_HUMAN	H	129	ENSP00000443007:Q129H;ENSP00000443346:Q129H	ENSP00000443007:Q129H	Q	-	3	2	C12orf36	13417435	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.807000	0.01734	-1.505000	0.01807	-2.451000	0.00208	CAA	C12orf36	-	NULL	ENSG00000180861		0.403	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	C12orf36	HGNC	protein_coding	OTTHUMT00000395025.2	265	0.00	0	T	NM_182558		13526168	13526168	-1	no_errors	ENST00000318426	ensembl	human	known	69_37n	missense	264	27.27	99	SNP	0.000	G
CADPS2	93664	genome.wustl.edu	37	7	122153323	122153323	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr7:122153323G>A	ENST00000449022.2	-	9	1541	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000334010.7_Missense_Mutation_p.R508C|CADPS2_ENST00000313070.7_Missense_Mutation_p.R508C|CADPS2_ENST00000412584.2_Missense_Mutation_p.R508C	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	508	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACAAAGTAACGTTTTTTCCAT	0.323																																						dbGAP											0													66.0	62.0	63.0					7																	122153323		1800	4053	5853	-	-	-	SO:0001583	missense	0				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1522C>T	7.37:g.122153323G>A	ENSP00000398481:p.Arg508Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R508C	ENST00000449022.2	37	c.1522	CCDS55158.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.314596|4.314596	0.81358|0.81358	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.80393|.	-1.37;-1.37;-1.37;-1.37|.	6.17|6.17	5.27|5.27	0.74061|0.74061	Pleckstrin homology-type (1);Pleckstrin homology domain (3);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78046|0.78046	0.4222|0.4222	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.997;0.997|.	T|T	0.78048|0.78048	-0.2356|-0.2356	10|5	0.87932|.	D|.	0|.	-3.986|-3.986	17.0573|17.0573	0.86537|0.86537	0.0:0.0:0.8725:0.1275|0.0:0.0:0.8725:0.1275	.|.	508;508;508|.	Q86UW7-2;Q86UW7;Q86UW7-3|.	.;CAPS2_HUMAN;.|.	C|M	508;508;508;475;508;508|156	ENSP00000325581:R508C;ENSP00000333940:R508C;ENSP00000400401:R508C;ENSP00000398481:R508C|.	ENSP00000325581:R508C|.	R|T	-|-	1|2	0|0	CADPS2|CADPS2	121940559|121940559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.447000|3.447000	0.52936|0.52936	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|ACG	CADPS2	-	pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000081803		0.323	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	161	0.00	0	G	NM_017954		122153323	122153323	-1	no_errors	ENST00000449022	ensembl	human	known	69_37n	missense	82	34.92	44	SNP	1.000	A
CBLB	868	genome.wustl.edu	37	3	105421211	105421211	+	Silent	SNP	A	A	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr3:105421211A>T	ENST00000264122.4	-	12	2007	c.1686T>A	c.(1684-1686)ccT>ccA	p.P562P	CBLB_ENST00000394027.3_Silent_p.P584P|CBLB_ENST00000405772.1_Silent_p.P562P|CBLB_ENST00000403724.1_Silent_p.P562P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	562	Interaction with VAV1.|Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGATTGGTGGAGGTCTTTCAG	0.517			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	dbGAP		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													86.0	77.0	80.0					3																	105421211		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1686T>A	3.37:g.105421211A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.P562	ENST00000264122.4	37	c.1686	CCDS2948.1	3																																																																																			CBLB	-	NULL	ENSG00000114423		0.517	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	134	0.00	0	A	NM_170662		105421211	105421211	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	silent	91	31.34	42	SNP	1.000	T
CCDC103	388389	genome.wustl.edu	37	17	42978466	42978466	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr17:42978466T>A	ENST00000417826.2	+	2	195	c.100T>A	c.(100-102)Tta>Ata	p.L34I	FAM187A_ENST00000412523.2_5'UTR|EFTUD2_ENST00000426333.2_5'Flank|FAM187A_ENST00000331733.4_5'UTR|EFTUD2_ENST00000592576.1_5'Flank|CCDC103_ENST00000410006.2_Missense_Mutation_p.L34I|EFTUD2_ENST00000591382.1_5'Flank|AC015936.3_ENST00000441312.1_RNA|CCDC103_ENST00000410027.1_Missense_Mutation_p.L34I|EFTUD2_ENST00000402521.3_5'Flank	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	34					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGCTGCCAAGTTACGGGCAGT	0.483																																						dbGAP											0													116.0	99.0	105.0					17																	42978466		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.100T>A	17.37:g.42978466T>A	ENSP00000391692:p.Leu34Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K145|B8ZZU0	Missense_Mutation	SNP	NULL	p.L34I	ENST00000417826.2	37	c.100	CCDS11490.1	17	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348379	0.41599	.	.	ENSG00000167131	ENST00000357776;ENST00000410027;ENST00000417826;ENST00000410006	T;T;T	0.77877	-1.13;-1.12;-1.12	5.76	2.32	0.28847	.	0.229991	0.26742	U	0.022728	T	0.66848	0.2831	L	0.49513	1.565	0.31286	N	0.69002	P	0.35745	0.518	B	0.31390	0.129	T	0.63310	-0.6666	10	0.33940	T	0.23	-19.7683	9.0156	0.36168	0.0:0.3059:0.0:0.6941	.	34	Q8IW40	CC103_HUMAN	I	34	ENSP00000350420:L34I;ENSP00000391692:L34I;ENSP00000387252:L34I	ENSP00000350420:L34I	L	+	1	2	CCDC103	40333992	1.000000	0.71417	0.930000	0.37139	0.990000	0.78478	1.134000	0.31442	0.125000	0.18397	0.379000	0.24179	TTA	CCDC103	-	NULL	ENSG00000167131		0.483	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC103	HGNC	protein_coding	OTTHUMT00000334578.1	125	0.00	0	T	NM_213607		42978466	42978466	+1	no_errors	ENST00000410006	ensembl	human	known	69_37n	missense	62	32.61	30	SNP	0.993	A
CDH23	64072	genome.wustl.edu	37	10	73553149	73553149	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr10:73553149C>T	ENST00000224721.6	+	47	6484	c.6479C>T	c.(6478-6480)tCg>tTg	p.S2160L	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2155	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTTCCTCTCTCGGGCACAGCC	0.602																																						dbGAP											0													69.0	76.0	74.0					10																	73553149		2106	4242	6348	-	-	-	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6479C>T	10.37:g.73553149C>T	ENSP00000224721:p.Ser2160Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S2158L	ENST00000224721.6	37	c.6473		10	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934750	0.92458	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.32	5.32	0.75619	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.69602	0.3129	L	0.59912	1.85	0.80722	D	1	P	0.47191	0.891	P	0.49999	0.628	T	0.70360	-0.4893	9	0.46703	T	0.11	.	19.0063	0.92852	0.0:1.0:0.0:0.0	.	2155	Q9H251	CAD23_HUMAN	L	2160;2155;2158	.	ENSP00000224721:S2160L	S	+	2	0	CDH23	73223155	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	5.956000	0.70315	2.484000	0.83849	0.650000	0.86243	TCG	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.602	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	33	0.00	0	C	NM_052836		73553149	73553149	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	25	46.81	22	SNP	1.000	T
CHEK2	11200	genome.wustl.edu	37	22	29115457	29115457	+	Missense_Mutation	SNP	A	A	C	rs587781563		TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr22:29115457A>C	ENST00000405598.1	-	6	800	c.609T>G	c.(607-609)gaT>gaG	p.D203E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.D112E|CHEK2_ENST00000328354.6_Missense_Mutation_p.D203E|CHEK2_ENST00000382580.2_Missense_Mutation_p.D246E|CHEK2_ENST00000403642.1_Missense_Mutation_p.D112E|CHEK2_ENST00000404276.1_Missense_Mutation_p.D203E|CHEK2_ENST00000402731.1_Missense_Mutation_p.D203E|CHEK2_ENST00000382566.1_Missense_Mutation_p.D203E|CHEK2_ENST00000348295.3_Missense_Mutation_p.D203E|CHEK2_ENST00000544772.1_5'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	203					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CTACAGTCAGATCAAAAAAGA	0.299			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														dbGAP	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													25.0	26.0	25.0					22																	29115457		2186	4265	6451	-	-	-	SO:0001583	missense	0			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.609T>G	22.37:g.29115457A>C	ENSP00000386087:p.Asp203Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom	p.D246E	ENST00000405598.1	37	c.738	CCDS13843.1	22	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838868	0.51057	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000439200	D;T;D;D;D;D;D;T;D;D	0.89810	-2.57;-0.12;-2.57;-2.57;-2.57;-2.57;-2.57;-0.12;-2.57;-2.57	5.38	2.03	0.26663	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89139	0.6630	L	0.57536	1.79	0.80722	D	1	P;D;D;D;P;P	0.63880	0.46;0.991;0.993;0.991;0.76;0.712	B;P;P;P;B;B	0.55222	0.36;0.753;0.695;0.771;0.348;0.395	D	0.86208	0.1623	10	0.51188	T	0.08	-13.8384	7.7408	0.28841	0.7371:0.0:0.2629:0.0	.	203;112;203;203;203;246	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	203;112;203;203;203;203;246;112;203;234	ENSP00000329012:D203E;ENSP00000372021:D112E;ENSP00000372007:D203E;ENSP00000329178:D203E;ENSP00000385747:D203E;ENSP00000386087:D203E;ENSP00000372023:D246E;ENSP00000384919:D112E;ENSP00000384835:D203E;ENSP00000408065:D234E	ENSP00000329178:D203E	D	-	3	2	CHEK2	27445457	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.323000	0.33701	0.346000	0.23899	0.374000	0.22700	GAT	CHEK2	-	superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain	ENSG00000183765		0.299	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1	70	0.00	0	A	NM_001005735		29115457	29115457	-1	no_errors	ENST00000382580	ensembl	human	known	69_37n	missense	72	21.74	20	SNP	1.000	C
COL20A1	57642	genome.wustl.edu	37	20	61942976	61942976	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr20:61942976G>A	ENST00000358894.6	+	13	1639		c.e13-1		COL20A1_ENST00000422202.1_Splice_Site|COL20A1_ENST00000326996.6_Splice_Site|COL20A1_ENST00000435874.1_Splice_Site	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGTCTCTGCAGGTGCAGGTCG	0.706																																						dbGAP											0													20.0	29.0	26.0					20																	61942976		2051	4187	6238	-	-	-	SO:0001630	splice_region_variant	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1540-1G>A	20.37:g.61942976G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Splice_Site	SNP	-	e12-1	ENST00000358894.6	37	c.1540-1	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	G	8.768	0.925330	0.18056	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	.	.	.	3.34	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.273	0.31855	0.1224:0.0:0.8776:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL20A1	61413421	0.942000	0.31987	0.927000	0.36925	0.102000	0.19082	2.525000	0.45598	0.747000	0.32809	0.313000	0.20887	.	COL20A1	-	-	ENSG00000101203		0.706	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	25	0.00	0	G	NM_020882	Intron	61942976	61942976	+1	no_errors	ENST00000326996	ensembl	human	known	69_37n	splice_site	13	43.48	10	SNP	0.999	A
CUL9	23113	genome.wustl.edu	37	6	43191035	43191035	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr6:43191035C>T	ENST00000252050.4	+	39	7268	c.7184C>T	c.(7183-7185)tCc>tTc	p.S2395F	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.S2367F|CUL9_ENST00000354495.3_Missense_Mutation_p.S2285F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2395					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GACCTGGCCTCCTCCCTGCGC	0.642																																						dbGAP											0													24.0	22.0	22.0					6																	43191035		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.7184C>T	6.37:g.43191035C>T	ENSP00000252050:p.Ser2395Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.S2395F	ENST00000252050.4	37	c.7184	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569950	0.86542	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74842	-0.88;-0.88;-0.76	5.02	4.13	0.48395	.	0.324666	0.33144	N	0.005232	T	0.65954	0.2741	L	0.29908	0.895	0.48901	D	0.999723	P;P;P	0.50617	0.937;0.895;0.895	P;P;P	0.53809	0.735;0.548;0.548	T	0.72541	-0.4262	10	0.87932	D	0	-10.0923	15.195	0.73081	0.0:0.8584:0.1416:0.0	.	2285;2367;2395	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	F	2395;2285;2367	ENSP00000252050:S2395F;ENSP00000346490:S2285F;ENSP00000361730:S2367F	ENSP00000252050:S2395F	S	+	2	0	CUL9	43299013	0.997000	0.39634	0.998000	0.56505	0.971000	0.66376	3.810000	0.55613	1.064000	0.40671	0.561000	0.74099	TCC	CUL9	-	NULL	ENSG00000112659		0.642	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	33	0.00	0	C	NM_015089		43191035	43191035	+1	no_errors	ENST00000252050	ensembl	human	known	69_37n	missense	17	41.94	13	SNP	0.999	T
DENND1A	57706	genome.wustl.edu	37	9	126520095	126520095	+	Silent	SNP	T	T	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr9:126520095T>A	ENST00000373624.2	-	5	390	c.189A>T	c.(187-189)acA>acT	p.T63T	DENND1A_ENST00000394219.3_Silent_p.T31T|DENND1A_ENST00000373618.1_Silent_p.T31T|DENND1A_ENST00000373620.3_Silent_p.T63T|DENND1A_ENST00000394215.2_Silent_p.T33T|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	63	UDENN.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTTGGCTAACTGTGAGGCTGC	0.433																																						dbGAP											0													73.0	63.0	66.0					9																	126520095		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.189A>T	9.37:g.126520095T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.T31	ENST00000373624.2	37	c.93	CCDS35133.1	9																																																																																			DENND1A	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000119522		0.433	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	81	0.00	0	T	NM_024820		126520095	126520095	-1	no_errors	ENST00000394219	ensembl	human	known	69_37n	silent	49	37.18	29	SNP	1.000	A
DHX16	8449	genome.wustl.edu	37	6	30623036	30623036	+	Silent	SNP	A	A	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr6:30623036A>G	ENST00000376442.3	-	18	2934	c.2739T>C	c.(2737-2739)gaT>gaC	p.D913D	DHX16_ENST00000376437.5_Silent_p.D432D	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	913					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GTTCCCGCACATCCCGGGCTC	0.522																																						dbGAP											0													101.0	95.0	97.0					6																	30623036		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2739T>C	6.37:g.30623036A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D913	ENST00000376442.3	37	c.2739	CCDS4685.1	6																																																																																			DHX16	-	NULL	ENSG00000204560		0.522	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	HGNC	protein_coding	OTTHUMT00000076076.2	76	0.00	0	A	NM_003587		30623036	30623036	-1	no_errors	ENST00000376442	ensembl	human	known	69_37n	silent	90	23.08	27	SNP	0.998	G
DNAH11	8701	genome.wustl.edu	37	7	21639693	21639693	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr7:21639693C>G	ENST00000409508.3	+	15	2987	c.2956C>G	c.(2956-2958)Cag>Gag	p.Q986E	DNAH11_ENST00000328843.6_Missense_Mutation_p.Q986E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	986	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGTCTGCCCAGATGAACCG	0.338									Kartagener syndrome																													dbGAP											0													55.0	53.0	53.0					7																	21639693		1832	4076	5908	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2956C>G	7.37:g.21639693C>G	ENSP00000475939:p.Gln986Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q986E	ENST00000409508.3	37	c.2956		7	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838776	0.32513	.	.	ENSG00000105877	ENST00000328843	T	0.21932	1.98	5.5	5.5	0.81552	.	0.449841	0.22313	N	0.061709	T	0.17152	0.0412	.	.	.	0.29001	N	0.887498	P	0.35328	0.495	B	0.33750	0.169	T	0.07986	-1.0744	9	0.29301	T	0.29	.	15.7144	0.77655	0.0:0.863:0.137:0.0	.	986	Q96DT5	DYH11_HUMAN	E	986	ENSP00000330671:Q986E	ENSP00000330671:Q986E	Q	+	1	0	DNAH11	21606218	0.948000	0.32251	1.000000	0.80357	0.659000	0.38960	2.116000	0.41930	2.748000	0.94277	0.655000	0.94253	CAG	DNAH11	-	NULL	ENSG00000105877		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	39	0.00	0	C	NM_003777		21639693	21639693	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	50	28.57	20	SNP	0.991	G
DNHD1	144132	genome.wustl.edu	37	11	6592506	6592506	+	Silent	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr11:6592506C>T	ENST00000527990.2	+	40	13764	c.13764C>T	c.(13762-13764)caC>caT	p.H4588H	DNHD1_ENST00000254579.6_Silent_p.H4588H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4588					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTTTCGCCACCCGCGCCGCC	0.647																																						dbGAP											0													27.0	33.0	31.0					11																	6592506		2140	4259	6399	-	-	-	SO:0001819	synonymous_variant	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13764C>T	11.37:g.6592506C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.H4588	ENST00000527990.2	37	c.13764	CCDS44532.1	11																																																																																			DNHD1	-	pfam_Dynein_heavy	ENSG00000179532		0.647	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	59	0.00	0	C	NM_144666		6592506	6592506	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	silent	28	30.00	12	SNP	0.986	T
DPRX	503834	genome.wustl.edu	37	19	54139920	54139920	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr19:54139920delC	ENST00000376650.1	+	3	305	c.254delC	c.(253-255)actfs	p.T85fs		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAACAAGAAACTCCACAACCG	0.502																																						dbGAP											0													78.0	74.0	76.0					19																	54139920		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.254delC	19.37:g.54139920delC	ENSP00000365838:p.Thr85fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.T85fs	ENST00000376650.1	37	c.254	CCDS33103.1	19																																																																																			DPRX	-	superfamily_Homeodomain-like	ENSG00000204595		0.502	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPRX	HGNC	protein_coding	OTTHUMT00000409880.1	65	0.00	0	C	NM_001012728		54139920	54139920	+1	no_errors	ENST00000376650	ensembl	human	known	69_37n	frame_shift_del	64	15.38	12	DEL	0.000	-
EPHA2	1969	genome.wustl.edu	37	1	16475071	16475071	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr1:16475071C>T	ENST00000358432.5	-	3	779	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	209	Cys-rich.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGGAAGTGGGCCAGGCCCTGC	0.642																																						dbGAP											0													62.0	63.0	63.0					1																	16475071		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.625G>A	1.37:g.16475071C>T	ENSP00000351209:p.Ala209Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.A209T	ENST00000358432.5	37	c.625	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722389	0.68959	.	.	ENSG00000142627	ENST00000358432	T	0.78816	-1.21	5.07	5.07	0.68467	.	0.000000	0.53938	D	0.000045	D	0.86636	0.5980	M	0.77616	2.38	0.80722	D	1	D;P	0.71674	0.998;0.459	P;B	0.61722	0.893;0.177	D	0.88623	0.3164	10	0.87932	D	0	.	15.9393	0.79743	0.0:1.0:0.0:0.0	.	209;209	B5A968;P29317	.;EPHA2_HUMAN	T	209	ENSP00000351209:A209T	ENSP00000351209:A209T	A	-	1	0	EPHA2	16347658	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	7.801000	0.85960	2.358000	0.79984	0.511000	0.50034	GCC	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000142627		0.642	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	41	0.00	0	C	NM_004431		16475071	16475071	-1	no_errors	ENST00000358432	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	T
FAH	2184	genome.wustl.edu	37	15	80454634	80454634	+	Silent	SNP	C	C	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr15:80454634C>G	ENST00000407106.1	+	6	566	c.411C>G	c.(409-411)gtC>gtG	p.V137V	FAH_ENST00000561421.1_Silent_p.V137V|FAH_ENST00000261755.5_Silent_p.V137V|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000539156.1_Silent_p.V67V			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	137					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTACCAACGTCGGAATCATGT	0.473									Tyrosinemia, type 1																													dbGAP											0													176.0	156.0	163.0					15																	80454634		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.411C>G	15.37:g.80454634C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9X1|D3DW95|Q53XA7	Silent	SNP	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.V137	ENST00000407106.1	37	c.411	CCDS10314.1	15	.	.	.	.	.	.	.	.	.	.	C	0.056	-1.235904	0.01505	.	.	ENSG00000103876	ENST00000537726	.	.	.	4.81	-9.62	0.00547	.	.	.	.	.	T	0.37732	0.1014	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33266	-0.9875	7	0.87932	D	0	-12.7737	3.262	0.06851	0.1637:0.409:0.1656:0.2617	.	159	B7Z4W2	.	G	159	.	ENSP00000443621:R159G	R	+	1	2	FAH	78241689	0.007000	0.16637	0.000000	0.03702	0.018000	0.09664	-1.433000	0.02428	-3.476000	0.00156	-1.781000	0.00649	CGG	FAH	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase	ENSG00000103876		0.473	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2	183	0.00	0	C			80454634	80454634	+1	no_errors	ENST00000261755	ensembl	human	known	69_37n	silent	177	17.67	38	SNP	0.032	G
FHL5	9457	genome.wustl.edu	37	6	97051596	97051596	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr6:97051596T>C	ENST00000326771.2	+	3	487	c.107T>C	c.(106-108)gTa>gCa	p.V36A	FHL5_ENST00000541107.1_Missense_Mutation_p.V36A	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	36					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TATGATCGTGTATTTTCTAAC	0.363																																						dbGAP											0													168.0	148.0	155.0					6																	97051596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.107T>C	6.37:g.97051596T>C	ENSP00000326022:p.Val36Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.V36A	ENST00000326771.2	37	c.107	CCDS5035.1	6	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417021	0.25552	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87103	-2.21;-2.21;-2.21	5.65	4.48	0.54585	Zinc finger, LIM-type (1);	0.319329	0.22600	N	0.057968	T	0.70885	0.3275	L	0.36672	1.1	0.32028	N	0.599941	B	0.20261	0.043	B	0.17098	0.017	T	0.65768	-0.6088	10	0.59425	D	0.04	.	11.7359	0.51765	0.0:0.0694:0.0:0.9306	.	36	Q5TD97	FHL5_HUMAN	A	36	ENSP00000442357:V36A;ENSP00000326022:V36A;ENSP00000396390:V36A	ENSP00000326022:V36A	V	+	2	0	FHL5	97158317	0.637000	0.27216	0.137000	0.22149	0.028000	0.11728	4.221000	0.58574	0.955000	0.37878	0.482000	0.46254	GTA	FHL5	-	NULL	ENSG00000112214		0.363	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1	131	0.00	0	T	NM_020482		97051596	97051596	+1	no_errors	ENST00000326771	ensembl	human	known	69_37n	missense	92	31.85	43	SNP	0.777	C
HIVEP3	59269	genome.wustl.edu	37	1	41978910	41978910	+	Silent	SNP	G	G	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr1:41978910G>C	ENST00000372583.1	-	8	6867	c.5982C>G	c.(5980-5982)ccC>ccG	p.P1994P	HIVEP3_ENST00000372584.1_Silent_p.P1994P|HIVEP3_ENST00000247584.5_Silent_p.P1994P|HIVEP3_ENST00000429157.2_Silent_p.P1994P|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1994					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGCATCGCTGGGGAGATGAGT	0.637																																						dbGAP											0													57.0	65.0	62.0					1																	41978910		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5982C>G	1.37:g.41978910G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1994	ENST00000372583.1	37	c.5982	CCDS463.1	1																																																																																			HIVEP3	-	NULL	ENSG00000127124		0.637	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	29	0.00	0	G	NM_024503		41978910	41978910	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	silent	18	43.75	14	SNP	1.000	C
HSD17B4	3295	genome.wustl.edu	37	5	118862855	118862855	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr5:118862855G>A	ENST00000256216.6	+	20	1841	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000513628.1_Missense_Mutation_p.G433R|HSD17B4_ENST00000510025.1_Missense_Mutation_p.G546R|HSD17B4_ENST00000515320.1_Missense_Mutation_p.G552R|HSD17B4_ENST00000504811.1_Missense_Mutation_p.G595R|HSD17B4_ENST00000509514.1_Missense_Mutation_p.G308R|HSD17B4_ENST00000414835.2_Missense_Mutation_p.G430R	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	570	Enoyl-CoA hydratase 2.|MaoC-like.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		AGTATATCCAGGACAAACTCT	0.338																																					Colon(35;490 801 34689 41394 43344)	dbGAP											0													76.0	75.0	75.0					5																	118862855		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1708G>A	5.37:g.118862855G>A	ENSP00000256216:p.Gly570Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.G570R	ENST00000256216.6	37	c.1708	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786675	0.90367	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.26	5.26	0.73747	MaoC-like dehydratase (1);	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	H	0.98577	4.27	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.98111	1.0420	10	0.87932	D	0	-16.4101	17.6262	0.88095	0.0:0.0:1.0:0.0	.	595;552;546;308;570	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	R	570;552;546;595;430;433;308	ENSP00000256216:G570R;ENSP00000424613:G552R;ENSP00000424940:G546R;ENSP00000420914:G595R;ENSP00000411960:G430R;ENSP00000425993:G433R;ENSP00000426272:G308R	ENSP00000256216:G570R	G	+	1	0	HSD17B4	118890754	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.655000	0.91098	2.468000	0.83385	0.655000	0.94253	GGA	HSD17B4	-	pfam_MaoC_deHydtase	ENSG00000133835		0.338	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	126	0.00	0	G	NM_000414		118862855	118862855	+1	no_errors	ENST00000256216	ensembl	human	known	69_37n	missense	67	36.19	38	SNP	1.000	A
INTS1	26173	genome.wustl.edu	37	7	1525118	1525118	+	Intron	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr7:1525118C>T	ENST00000404767.3	-	23	3062				INTS1_ENST00000389470.4_Silent_p.E1150E	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1						inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTGGCAGACACTCATGAGCTG	0.667																																						dbGAP											0													22.0	28.0	26.0					7																	1525118		2060	4184	6244	-	-	-	SO:0001627	intron_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2977-13G>A	7.37:g.1525118C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.E1150	ENST00000404767.3	37	c.3450	CCDS47526.1	7																																																																																			INTS1	-	NULL	ENSG00000164880		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	31	0.00	0	C			1525118	1525118	-1	no_errors	ENST00000389470	ensembl	human	known	69_37n	silent	18	59.09	26	SNP	0.000	T
KIF25	3834	genome.wustl.edu	37	6	168439275	168439275	+	Silent	SNP	C	C	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr6:168439275C>G	ENST00000443060.2	+	6	751	c.360C>G	c.(358-360)gtC>gtG	p.V120V	KIF25_ENST00000351261.3_Silent_p.V120V|KIF25_ENST00000354419.2_Silent_p.V120V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	120	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGGTTGAAGTCTCCATAGTGG	0.453																																						dbGAP											0													101.0	104.0	103.0					6																	168439275		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.360C>G	6.37:g.168439275C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O94775|Q5SZU9	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V120	ENST00000443060.2	37	c.360	CCDS5305.1	6																																																																																			KIF25	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000125337		0.453	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIF25	HGNC	protein_coding	OTTHUMT00000362509.1	145	0.00	0	C			168439275	168439275	+1	no_errors	ENST00000354419	ensembl	human	known	69_37n	silent	51	61.94	83	SNP	0.444	G
KLHL13	90293	genome.wustl.edu	37	X	117033310	117033310	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chrX:117033310G>C	ENST00000262820.3	-	7	2438	c.1529C>G	c.(1528-1530)cCt>cGt	p.P510R	KLHL13_ENST00000540167.1_Missense_Mutation_p.P494R|KLHL13_ENST00000539496.1_Missense_Mutation_p.P513R|KLHL13_ENST00000371882.1_Missense_Mutation_p.P459R|KLHL13_ENST00000469946.1_Missense_Mutation_p.P459R|KLHL13_ENST00000371878.1_Missense_Mutation_p.P459R|KLHL13_ENST00000371876.1_Missense_Mutation_p.P459R|KLHL13_ENST00000545703.1_Missense_Mutation_p.P468R|KLHL13_ENST00000541812.1_Missense_Mutation_p.P494R	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	510					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTCAGTATCAGGGTCAAAGCA	0.398																																						dbGAP											0													199.0	192.0	195.0					X																	117033310		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1529C>G	X.37:g.117033310G>C	ENSP00000262820:p.Pro510Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P513R	ENST00000262820.3	37	c.1538	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549521	0.65311	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.03	5.03	0.67393	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.71674	0.966;0.998;0.966;0.973	P;D;P;P	0.72075	0.744;0.976;0.891;0.892	D	0.94001	0.7275	10	0.87932	D	0	.	17.4428	0.87569	0.0:0.0:1.0:0.0	.	494;513;504;510	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	R	459;459;459;459;494;494;513;510;468;459	ENSP00000360949:P459R;ENSP00000360943:P459R;ENSP00000360945:P459R;ENSP00000412640:P459R;ENSP00000444450:P494R;ENSP00000441029:P494R;ENSP00000443191:P513R;ENSP00000262820:P510R;ENSP00000440707:P468R;ENSP00000419803:P459R	ENSP00000262820:P510R	P	-	2	0	KLHL13	116917338	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.657000	0.98554	2.302000	0.77476	0.600000	0.82982	CCT	KLHL13	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000003096		0.398	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		143	0.00	0	G	NM_033495		117033310	117033310	-1	no_errors	ENST00000539496	ensembl	human	known	69_37n	missense	119	27.44	45	SNP	1.000	C
KLHL23	151230	genome.wustl.edu	37	2	170592167	170592167	+	Missense_Mutation	SNP	C	C	G	rs142156486	byFrequency	TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr2:170592167C>G	ENST00000392647.2	+	2	887	c.643C>G	c.(643-645)Cga>Gga	p.R215G	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.R215G	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	215	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TGTAGAAAATCGAATTGAATG	0.373																																						dbGAP											0													46.0	49.0	48.0					2																	170592167		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.643C>G	2.37:g.170592167C>G	ENSP00000376419:p.Arg215Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9B9|Q96FT8	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R215G	ENST00000392647.2	37	c.643	CCDS2236.1	2	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512720	0.64522	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.73897	-0.79;-0.79;-0.79	5.81	5.81	0.92471	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	H	0.94306	3.52	0.34085	D	0.660070	D	0.89917	1.0	D	0.97110	1.0	D	0.92310	0.5857	9	0.87932	D	0	.	14.755	0.69557	0.1788:0.8212:0.0:0.0	.	215	Q8NBE8	KLH23_HUMAN	G	215;215;36	ENSP00000272797:R215G;ENSP00000376419:R215G;ENSP00000394732:R36G	ENSP00000272797:R215G	R	+	1	2	KLHL23	170300413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.921000	0.63397	2.738000	0.93877	0.655000	0.94253	CGA	KLHL23	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000213160		0.373	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2	54	0.00	0	C	NM_144711		170592167	170592167	+1	no_errors	ENST00000272797	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	1.000	G
LINC00326	285735	genome.wustl.edu	37	6	133421215	133421215	+	lincRNA	SNP	A	A	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr6:133421215A>T	ENST00000457339.1	+	0	1923									long intergenic non-protein coding RNA 326																		GAAAGAAGACAAAATCGTTTT	0.363																																						dbGAP											0																																										-	-	-			0					6q23.2	2012-10-12	2011-08-10	2011-08-10	ENSG00000231023	ENSG00000231023		"""Long non-coding RNAs"""	41926	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 326"""	NCRNA00326			Standard	NR_026969		Approved		uc003qdz.3		OTTHUMG00000015597		6.37:g.133421215A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000457339.1	37	NULL		6																																																																																			LINC00326	-	-	ENSG00000231023		0.363	LINC00326-002	KNOWN	basic	lincRNA	LINC00326	HGNC	lincRNA	OTTHUMT00000317882.1	195	0.00	0	A	NR_026969		133421215	133421215	+1	no_errors	ENST00000434443	ensembl	human	known	69_37n	rna	146	28.64	59	SNP	0.000	T
LRRC4B	94030	genome.wustl.edu	37	19	51021954	51021954	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr19:51021954C>A	ENST00000599957.1	-	3	1213	c.1016G>T	c.(1015-1017)cGc>cTc	p.R339L	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R339L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	339	LRRCT.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGCATGACAGCGGGCGCAGCA	0.657																																						dbGAP											0													39.0	46.0	43.0					19																	51021954		2152	4233	6385	-	-	-	SO:0001583	missense	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1016G>T	19.37:g.51021954C>A	ENSP00000471502:p.Arg339Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R339L	ENST00000599957.1	37	c.1016	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834130	0.71373	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.59906	0.23	3.9	3.9	0.45041	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	U	0.000000	T	0.67420	0.2891	M	0.74881	2.28	0.58432	D	0.999999	D	0.60575	0.988	P	0.55785	0.784	T	0.66658	-0.5868	10	0.25751	T	0.34	.	13.7911	0.63140	0.0:1.0:0.0:0.0	.	339	Q9NT99	LRC4B_HUMAN	L	339	ENSP00000373853:R339L	ENSP00000373853:R339L	R	-	2	0	LRRC4B	55713766	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.645000	0.83430	2.192000	0.70111	0.561000	0.74099	CGC	LRRC4B	-	smart_Cys-rich_flank_reg_C	ENSG00000131409		0.657	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	70	0.00	0	C	NM_001080457		51021954	51021954	-1	no_errors	ENST00000389201	ensembl	human	known	69_37n	missense	43	30.16	19	SNP	1.000	A
LRRIQ3	127255	genome.wustl.edu	37	1	74507371	74507371	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr1:74507371A>C	ENST00000395089.1	-	6	1243	c.1244T>G	c.(1243-1245)aTg>aGg	p.M415R	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.M415R			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	415										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCGGAGTTTCATACCAGCTCT	0.368																																						dbGAP											0													141.0	126.0	131.0					1																	74507371		1846	4082	5928	-	-	-	SO:0001583	missense	0			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1244T>G	1.37:g.74507371A>C	ENSP00000378524:p.Met415Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.M415R	ENST00000395089.1	37	c.1244	CCDS41350.1	1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108968	0.37242	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.11063	2.81;2.81	5.77	4.65	0.58169	.	0.814244	0.10884	N	0.623433	T	0.03095	0.0091	L	0.27053	0.805	0.20489	N	0.999893	P	0.44578	0.838	B	0.38562	0.276	T	0.38090	-0.9677	10	0.87932	D	0	.	8.5847	0.33651	0.9132:0.0:0.0868:0.0	.	415	A6PVS8	LRIQ3_HUMAN	R	415	ENSP00000378524:M415R;ENSP00000346414:M415R	ENSP00000346414:M415R	M	-	2	0	LRRIQ3	74279959	0.395000	0.25254	0.115000	0.21578	0.148000	0.21650	3.021000	0.49651	1.126000	0.42016	0.477000	0.44152	ATG	LRRIQ3	-	NULL	ENSG00000162620		0.368	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1	266	0.00	0	A	NM_145258		74507371	74507371	-1	no_errors	ENST00000354431	ensembl	human	known	69_37n	missense	168	28.21	66	SNP	0.410	C
LYNX1	66004	genome.wustl.edu	37	8	143856615	143856615	+	Intron	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr8:143856615G>A	ENST00000335822.5	-	3	782				LYNX1_ENST00000345173.6_Silent_p.I107I|LYNX1_ENST00000522906.1_5'Flank|LYNX1_ENST00000395192.2_Silent_p.I107I|LYNX1_ENST00000398906.1_Silent_p.I107I|LYNX1_ENST00000523332.1_Intron	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1							anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGCCAGGAGGATGGGGGCCA	0.652																																						dbGAP											0													35.0	35.0	35.0					8																	143856615		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.154+395C>T	8.37:g.143856615G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWI7|G3XAC2|Q86SR0	Silent	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.I107	ENST00000335822.5	37	c.321	CCDS34951.1	8																																																																																			LYNX1	-	NULL	ENSG00000180155		0.652	LYNX1-001	KNOWN	basic|CCDS	protein_coding	LYNX1	HGNC	protein_coding	OTTHUMT00000379786.3	47	0.00	0	G	NM_177476		143856615	143856615	-1	no_errors	ENST00000345173	ensembl	human	known	69_37n	silent	38	29.63	16	SNP	0.000	A
MGA	23269	genome.wustl.edu	37	15	42058547	42058547	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr15:42058547A>G	ENST00000570161.1	+	23	8267	c.8267A>G	c.(8266-8268)tAt>tGt	p.Y2756C	MGA_ENST00000219905.7_Missense_Mutation_p.Y2756C|MGA_ENST00000389936.4_Missense_Mutation_p.Y2717C|MGA_ENST00000566586.1_Missense_Mutation_p.Y2547C|MGA_ENST00000545763.1_Missense_Mutation_p.Y2547C			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGATTCAGTATAAATGGAAA	0.358																																						dbGAP											0													44.0	41.0	42.0					15																	42058547		1823	4084	5907	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.8267A>G	15.37:g.42058547A>G	ENSP00000457035:p.Tyr2756Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.Y2756C	ENST00000570161.1	37	c.8267	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	A	13.98	2.397587	0.42512	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83591	-1.74;-1.72;-1.73	5.37	3.03	0.35002	.	1.430400	0.04431	N	0.369249	T	0.70193	0.3196	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.57021	-0.7882	10	0.33940	T	0.23	.	5.3283	0.15918	0.6563:0.1669:0.1768:0.0	.	2547;2756	F5H7K2;E7ENI0	.;.	C	2756;2717;2547	ENSP00000219905:Y2756C;ENSP00000374586:Y2717C;ENSP00000442467:Y2547C	ENSP00000219905:Y2756C	Y	+	2	0	MGA	39845839	0.289000	0.24334	0.879000	0.34478	0.993000	0.82548	1.317000	0.33631	1.053000	0.40415	0.528000	0.53228	TAT	MGA	-	NULL	ENSG00000174197		0.358	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	70	0.00	0	A	NM_001164273.1		42058547	42058547	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	29	42.00	21	SNP	0.218	G
MME	4311	genome.wustl.edu	37	3	154889935	154889935	+	Silent	SNP	C	C	T	rs201494121		TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr3:154889935C>T	ENST00000460393.1	+	21	2130	c.2010C>T	c.(2008-2010)ggC>ggT	p.G670G	MME_ENST00000493237.1_Silent_p.G670G|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Silent_p.G670G|MME_ENST00000492661.1_Silent_p.G670G|MME_ENST00000462745.1_Silent_p.G670G	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	670					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AAAAGAATGGCGAAGAAAAAT	0.279													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17010	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													80.0	85.0	84.0					3																	154889935		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.2010C>T	3.37:g.154889935C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.G670	ENST00000460393.1	37	c.2010	CCDS3172.1	3																																																																																			MME	-	pfam_Peptidase_M13_C	ENSG00000196549		0.279	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	154	0.65	1	C	NM_000902		154889935	154889935	+1	no_errors	ENST00000360490	ensembl	human	known	69_37n	silent	148	39.34	96	SNP	0.008	T
MTA3	57504	genome.wustl.edu	37	2	42931438	42931438	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr2:42931438G>A	ENST00000405094.1	+	12	1130	c.1130G>A	c.(1129-1131)aGa>aAa	p.R377K	MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000405592.1_Missense_Mutation_p.R320K|MTA3_ENST00000406652.1_Missense_Mutation_p.R320K|MTA3_ENST00000406911.1_Missense_Mutation_p.R376K|MTA3_ENST00000407270.3_Missense_Mutation_p.R377K			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	377						intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CTCTTAGGGAGAGCCTGTGAG	0.517																																						dbGAP											0													107.0	105.0	106.0					2																	42931438		1945	4130	6075	-	-	-	SO:0001583	missense	0			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1130G>A	2.37:g.42931438G>A	ENSP00000385823:p.Arg377Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSP2|Q9ULF4	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.R377K	ENST00000405094.1	37	c.1130		2	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711094	0.48517	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	D;D;D;D;D	0.99688	-6.41;-6.41;-6.41;-6.41;-6.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	N	0.11064	0.09	0.54753	D	0.999989	B;B;B	0.31274	0.104;0.317;0.105	B;B;B	0.29440	0.04;0.086;0.102	D	0.99957	1.1659	10	0.07644	T	0.81	-12.0451	20.1931	0.98233	0.0:0.0:1.0:0.0	.	376;377;320	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	K	320;320;377;377;376;377	ENSP00000383973:R320K;ENSP00000384249:R320K;ENSP00000385045:R377K;ENSP00000385241:R376K;ENSP00000385823:R377K	ENSP00000282366:R377K	R	+	2	0	MTA3	42784942	1.000000	0.71417	0.771000	0.31576	0.783000	0.44284	9.510000	0.98004	2.771000	0.95319	0.563000	0.77884	AGA	MTA3	-	smart_Znf_GATA	ENSG00000057935		0.517	MTA3-017	KNOWN	basic	protein_coding	MTA3	HGNC	protein_coding	OTTHUMT00000318159.1	108	0.00	0	G	NM_020744		42931438	42931438	+1	no_errors	ENST00000405094	ensembl	human	known	69_37n	missense	82	21.15	22	SNP	0.995	A
N4BP2L2	10443	genome.wustl.edu	37	13	33109915	33109915	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr13:33109915G>A	ENST00000267068.3	-	2	1414	c.1250C>T	c.(1249-1251)aCa>aTa	p.T417I	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.T417I|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	417					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CCGAGACAATGTTGTTTTCCC	0.358																																						dbGAP											0													67.0	68.0	68.0					13																	33109915		2203	4300	6503	-	-	-	SO:0001583	missense	0			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1250C>T	13.37:g.33109915G>A	ENSP00000267068:p.Thr417Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KME8	Missense_Mutation	SNP	pfam_Zeta_toxin_domain	p.T417I	ENST00000267068.3	37	c.1250	CCDS9346.1	13	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056470	0.55325	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.58940	0.3;0.3;0.3	5.8	5.8	0.92144	.	.	.	.	.	T	0.80232	0.4585	M	0.85630	2.765	0.80722	D	1	D;D	0.76494	0.977;0.999	D;D	0.81914	0.945;0.995	T	0.82135	-0.0607	9	0.72032	D	0.01	-3.78	20.0608	0.97674	0.0:0.0:1.0:0.0	.	417;417	D6R968;Q92802	.;N42L2_HUMAN	I	417	ENSP00000394239:T417I;ENSP00000423362:T417I;ENSP00000267068:T417I	ENSP00000267068:T417I	T	-	2	0	N4BP2L2	32007915	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	6.371000	0.73119	2.733000	0.93635	0.650000	0.86243	ACA	N4BP2L2	-	pfam_Zeta_toxin_domain	ENSG00000244754		0.358	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2L2	HGNC	protein_coding	OTTHUMT00000044421.1	61	0.00	0	G	NM_014887		33109915	33109915	-1	no_errors	ENST00000267068	ensembl	human	known	69_37n	missense	28	45.28	24	SNP	0.997	A
NEK5	341676	genome.wustl.edu	37	13	52701581	52701581	+	Missense_Mutation	SNP	C	C	A	rs371227620		TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr13:52701581C>A	ENST00000355568.4	-	3	177	c.38G>T	c.(37-39)gGt>gTt	p.G13V		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	13	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CCCGAAGGCACCTTGCCCGAT	0.388																																						dbGAP											0													195.0	189.0	191.0					13																	52701581		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.38G>T	13.37:g.52701581C>A	ENSP00000347767:p.Gly13Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G13V	ENST00000355568.4	37	c.38	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049798	0.75846	.	.	ENSG00000197168	ENST00000355568	D	0.85339	-1.97	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.96488	0.8854	H	0.99890	4.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98268	1.0502	10	0.87932	D	0	.	16.3491	0.83195	0.0:1.0:0.0:0.0	.	13	Q6P3R8	NEK5_HUMAN	V	13	ENSP00000347767:G13V	ENSP00000347767:G13V	G	-	2	0	NEK5	51599582	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.460000	0.66691	2.657000	0.90304	0.655000	0.94253	GGT	NEK5	-	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	ENSG00000197168		0.388	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	221	0.00	0	C	NM_199289		52701581	52701581	-1	no_errors	ENST00000355568	ensembl	human	known	69_37n	missense	115	33.14	57	SNP	1.000	A
NLRC5	84166	genome.wustl.edu	37	16	57092939	57092940	+	Frame_Shift_Ins	INS	-	-	TGTA			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr16:57092939_57092940insTGTA	ENST00000262510.6	+	29	4111_4112	c.3886_3887insTGTA	c.(3886-3888)cccfs	p.P1296fs	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Frame_Shift_Ins_p.P1267fs|NLRC5_ENST00000436936.1_Frame_Shift_Ins_p.P1296fs|NLRC5_ENST00000539144.1_Frame_Shift_Ins_p.P1267fs	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1296					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGAGACACTGCCCTCCTGCCCA	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	Exception_encountered	16.37:g.57092939_57092940insTGTA	ENSP00000262510:p.Pro1296fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.P1296fs	ENST00000262510.6	37	c.3886_3887	CCDS10773.1	16																																																																																			NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000140853		0.574	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	148	0.00	0	-	NM_032206		57092939	57092940	+1	no_errors	ENST00000262510	ensembl	human	known	69_37n	frame_shift_ins	65	38.10	40	INS	0.779:0.769	TGTA
NLRC5	84166	genome.wustl.edu	37	16	57092943	57092943	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr16:57092943C>G	ENST00000262510.6	+	29	4115	c.3890C>G	c.(3889-3891)tCc>tGc	p.S1297C	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Missense_Mutation_p.S1268C|NLRC5_ENST00000436936.1_Missense_Mutation_p.S1297C|NLRC5_ENST00000539144.1_Missense_Mutation_p.S1268C	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1297					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACACTGCCCTCCTGCCCACGT	0.572																																						dbGAP											0													220.0	200.0	207.0					16																	57092943		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3890C>G	16.37:g.57092943C>G	ENSP00000262510:p.Ser1297Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.S1297C	ENST00000262510.6	37	c.3890	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	c	10.82	1.459401	0.26248	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	T;T;T;T;T	0.55413	0.52;5.39;0.52;5.39;0.52	4.73	2.68	0.31781	.	.	.	.	.	T	0.63651	0.2529	M	0.77616	2.38	0.09310	N	1	D;D;D;P	0.63046	0.992;0.966;0.99;0.871	P;P;P;P	0.55785	0.599;0.698;0.784;0.521	T	0.54036	-0.8353	9	0.72032	D	0.01	.	7.5819	0.27970	0.1892:0.6282:0.1826:0.0	.	981;1268;1297;1297	Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	C	1297;1268;1297;740;1268;773	ENSP00000262510:S1297C;ENSP00000308886:S1268C;ENSP00000389739:S1297C;ENSP00000441727:S1268C;ENSP00000441597:S773C	ENSP00000262510:S1297C	S	+	2	0	NLRC5	55650444	0.576000	0.26700	0.661000	0.29709	0.017000	0.09413	0.597000	0.24059	0.545000	0.28902	0.544000	0.68410	TCC	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000140853		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	144	0.00	0	C	NM_032206		57092943	57092943	+1	no_errors	ENST00000262510	ensembl	human	known	69_37n	missense	62	40.00	42	SNP	0.383	G
PCYT2	5833	genome.wustl.edu	37	17	79864664	79864664	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr17:79864664G>C	ENST00000538936.2	-	7	756	c.648C>G	c.(646-648)atC>atG	p.I216M	PCYT2_ENST00000570388.1_Missense_Mutation_p.I138M|PCYT2_ENST00000331285.3_Missense_Mutation_p.I138M|PCYT2_ENST00000538721.2_Missense_Mutation_p.I234M|PCYT2_ENST00000570391.1_Missense_Mutation_p.I184M|PCYT2_ENST00000571105.1_Missense_Mutation_p.I216M	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	216					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CAGCCACATAGATGACTGTCT	0.612																																						dbGAP											0													64.0	61.0	62.0					17																	79864664		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.648C>G	17.37:g.79864664G>C	ENSP00000439245:p.Ile216Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel	p.I234M	ENST00000538936.2	37	c.702	CCDS11791.1	17	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267172	0.59540	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.48	1.42	0.22433	Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.048754	0.85682	D	0.000000	T	0.68256	0.2981	M	0.77616	2.38	0.51482	D	0.999925	P;D;D;D;D	0.62365	0.93;0.968;0.991;0.964;0.964	P;P;P;P;P	0.60473	0.669;0.753;0.875;0.669;0.753	T	0.67185	-0.5734	9	0.87932	D	0	-24.421	7.5142	0.27592	0.3348:0.0:0.6652:0.0	.	184;184;234;138;216	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	M	234;216;138	.	ENSP00000331719:I138M	I	-	3	3	PCYT2	77457956	1.000000	0.71417	0.993000	0.49108	0.913000	0.54294	4.913000	0.63341	0.160000	0.19432	0.655000	0.94253	ATC	PCYT2	-	tigrfam_Cyt_trans-rel	ENSG00000185813		0.612	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT2	HGNC	protein_coding	OTTHUMT00000439939.1	57	0.00	0	G	NM_002861		79864664	79864664	-1	no_errors	ENST00000538721	ensembl	human	known	69_37n	missense	54	21.74	15	SNP	1.000	C
PIWIL2	55124	genome.wustl.edu	37	8	22172647	22172647	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr8:22172647G>A	ENST00000454009.2	+	18	2706	c.2197G>A	c.(2197-2199)Gat>Aat	p.D733N	PIWIL2_ENST00000521356.1_Missense_Mutation_p.D733N|PIWIL2_ENST00000356766.6_Missense_Mutation_p.D733N	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	733	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTGGGGAGTGGATATTCCTCT	0.473																																						dbGAP											0													129.0	126.0	127.0					8																	22172647		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2197G>A	8.37:g.22172647G>A	ENSP00000406956:p.Asp733Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.D733N	ENST00000454009.2	37	c.2197	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868321	0.51588	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.15487	2.42;2.42;2.42	5.65	5.65	0.86999	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.247105	0.47093	D	0.000250	T	0.17789	0.0427	L	0.31476	0.935	0.40565	D	0.981247	B;B	0.27450	0.179;0.179	B;B	0.33295	0.161;0.161	T	0.05566	-1.0877	10	0.31617	T	0.26	-7.6171	18.8623	0.92278	0.0:0.0:1.0:0.0	.	733;733	E7ECA4;Q8TC59	.;PIWL2_HUMAN	N	733	ENSP00000349208:D733N;ENSP00000428267:D733N;ENSP00000406956:D733N	ENSP00000349208:D733N	D	+	1	0	PIWIL2	22228592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.431000	0.59915	2.810000	0.96702	0.650000	0.86243	GAT	PIWIL2	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000197181		0.473	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	195	0.00	0	G			22172647	22172647	+1	no_errors	ENST00000356766	ensembl	human	known	69_37n	missense	138	16.77	28	SNP	0.997	A
PNMAL1	55228	genome.wustl.edu	37	19	46973872	46973872	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr19:46973872G>A	ENST00000313683.10	-	2	726	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	PNMAL1_ENST00000438932.2_Nonsense_Mutation_p.Q141*|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	141										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tctgggggctgatgctggttc	0.602																																						dbGAP											0													43.0	49.0	47.0					19																	46973872		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.421C>T	19.37:g.46973872G>A	ENSP00000318131:p.Gln141*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Nonsense_Mutation	SNP	NULL	p.Q141*	ENST00000313683.10	37	c.421	CCDS33059.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.386922	0.97524	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	.	.	.	3.36	2.29	0.28610	.	0.842326	0.09702	N	0.766841	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-13.4311	8.5275	0.33313	0.0:0.2384:0.7616:0.0	.	.	.	.	X	141	.	ENSP00000318131:Q141X	Q	-	1	0	PNMAL1	51665712	0.001000	0.12720	0.007000	0.13788	0.440000	0.31957	0.249000	0.18216	0.958000	0.37956	0.655000	0.94253	CAG	PNMAL1	-	NULL	ENSG00000182013		0.602	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNMAL1	HGNC	protein_coding	OTTHUMT00000403929.1	42	0.00	0	G	NM_018215		46973872	46973872	-1	no_errors	ENST00000313683	ensembl	human	known	69_37n	nonsense	37	26.00	13	SNP	0.008	A
POGZ	23126	genome.wustl.edu	37	1	151403234	151403234	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr1:151403234G>C	ENST00000271715.2	-	4	681	c.367C>G	c.(367-369)Caa>Gaa	p.Q123E	POGZ_ENST00000531094.1_Missense_Mutation_p.Q70E|POGZ_ENST00000368863.2_Intron|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000409503.1_Missense_Mutation_p.Q123E|POGZ_ENST00000491586.1_Missense_Mutation_p.Q70E|POGZ_ENST00000392723.1_Missense_Mutation_p.Q70E|POGZ_ENST00000361398.3_Missense_Mutation_p.Q70E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	123					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AATACTGGTTGAGTAACCATT	0.507																																						dbGAP											0													136.0	134.0	135.0					1																	151403234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.367C>G	1.37:g.151403234G>C	ENSP00000271715:p.Gln123Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.Q123E	ENST00000271715.2	37	c.367	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298794	0.60195	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847;ENST00000533461;ENST00000533351;ENST00000450842	T;T;T;T;T;T	0.01126	5.81;5.74;5.81;5.72;5.82;5.3	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000004	T	0.01222	0.0040	N	0.14661	0.345	0.80722	D	1	P;B;P;B;P;B	0.43578	0.713;0.062;0.624;0.102;0.811;0.028	P;B;B;B;P;B	0.54924	0.585;0.024;0.128;0.025;0.764;0.024	T	0.76214	-0.3041	10	0.72032	D	0.01	-13.3466	17.5046	0.87741	0.0:0.0:1.0:0.0	.	70;123;123;70;70;123	E9PM80;B7ZBY5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	E	70;123;70;123;70;70;123;123;123;70	ENSP00000376484:Q70E;ENSP00000271715:Q123E;ENSP00000354467:Q70E;ENSP00000386836:Q123E;ENSP00000431259:Q70E;ENSP00000418408:Q70E	ENSP00000271715:Q123E	Q	-	1	0	POGZ	149669858	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.169000	0.71913	2.708000	0.92522	0.585000	0.79938	CAA	POGZ	-	NULL	ENSG00000143442		0.507	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	133	0.00	0	G	NM_207171		151403234	151403234	-1	no_errors	ENST00000271715	ensembl	human	known	69_37n	missense	176	14.15	29	SNP	1.000	C
PPFIA4	8497	genome.wustl.edu	37	1	203040821	203040821	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr1:203040821C>T	ENST00000447715.2	+	33	3701	c.3260C>T	c.(3259-3261)gCa>gTa	p.A1087V	PPFIA4_ENST00000272198.6_Splice_Site_p.A603V|PPFIA4_ENST00000414050.2_Splice_Site_p.A816V|PPFIA4_ENST00000295706.4_Splice_Site_p.A594V|PPFIA4_ENST00000367240.2_Splice_Site_p.A1088V|PPFIA4_ENST00000599966.1_Splice_Site_p.A594V			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	1087	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGACTGCAGGCACGCCAAGTG	0.507																																						dbGAP											0													75.0	76.0	76.0					1																	203040821		2008	4170	6178	-	-	-	SO:0001630	splice_region_variant	0			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.3259-1C>T	1.37:g.203040821C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM	p.A1088V	ENST00000447715.2	37	c.3263		1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635936	0.87760	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	4.83	4.83	0.62350	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.45126	D	0.000395	D	0.91382	0.7281	M	0.69185	2.1	0.80722	D	1	B;D;B;D;P	0.89917	0.393;0.97;0.393;1.0;0.864	B;P;B;D;B	0.71870	0.109;0.533;0.109;0.975;0.271	D	0.92343	0.5883	10	0.87932	D	0	-12.5139	18.1372	0.89623	0.0:1.0:0.0:0.0	.	816;1087;289;594;603	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	V	1088;1087;594;816;603	ENSP00000356209:A1088V;ENSP00000402576:A1087V;ENSP00000295706:A594V;ENSP00000400379:A816V;ENSP00000272198:A603V	ENSP00000272198:A603V	A	+	2	0	PPFIA4	201307444	1.000000	0.71417	0.997000	0.53966	0.189000	0.23516	7.637000	0.83313	2.503000	0.84419	0.563000	0.77884	GCA	PPFIA4	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000143847		0.507	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	PPFIA4	HGNC	protein_coding	OTTHUMT00000462949.1	93	0.00	0	C	NM_015053	Missense_Mutation	203040821	203040821	+1	no_errors	ENST00000367240	ensembl	human	known	69_37n	missense	68	29.17	28	SNP	1.000	T
HELZ2	85441	genome.wustl.edu	37	20	62197238	62197238	+	Silent	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr20:62197238C>T	ENST00000467148.1	-	8	3006	c.2937G>A	c.(2935-2937)gaG>gaA	p.E979E	HELZ2_ENST00000427522.2_Silent_p.E410E	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	979	Ala-rich.|Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCCCTACTGGCTCTGGGGCAG	0.687																																						dbGAP											0													11.0	12.0	11.0					20																	62197238		2160	4266	6426	-	-	-	SO:0001819	synonymous_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2937G>A	20.37:g.62197238C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.E979	ENST00000467148.1	37	c.2937	CCDS33508.1	20																																																																																			RP4-697K14.7	-	NULL	ENSG00000130589		0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIC285	Clone_based_vega_gene	protein_coding	OTTHUMT00000354127.1	8	0.00	0	C	NM_001037335		62197238	62197238	-1	no_errors	ENST00000467148	ensembl	human	known	69_37n	silent	7	36.36	4	SNP	0.000	T
PTCRA	171558	genome.wustl.edu	37	6	42891993	42891993	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr6:42891993C>T	ENST00000304672.1	+	3	487	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	PTCRA_ENST00000446507.1_Missense_Mutation_p.P29S|PTCRA_ENST00000441198.1_Missense_Mutation_p.P111S	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	136					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CAGGACCTGCCCCCAGGAGCC	0.642																																						dbGAP											0													43.0	45.0	44.0					6																	42891993		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.406C>T	6.37:g.42891993C>T	ENSP00000304447:p.Pro136Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TFZ7	Missense_Mutation	SNP	NULL	p.P136S	ENST00000304672.1	37	c.406	CCDS4874.1	6	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748133	0.30955	.	.	ENSG00000171611	ENST00000304672;ENST00000441198;ENST00000446507	T;T;T	0.46063	0.88;0.88;0.88	4.4	-2.14	0.07123	.	0.985345	0.08249	N	0.974945	T	0.16128	0.0388	N	0.24115	0.695	0.09310	N	1	P;P;P	0.52316	0.952;0.908;0.531	P;B;B	0.53146	0.719;0.394;0.201	T	0.04991	-1.0913	10	0.48119	T	0.1	-0.0877	1.1065	0.01695	0.1402:0.3441:0.2475:0.2682	.	29;111;136	Q6ISU1-2;Q6ISU1-3;Q6ISU1	.;.;PTCRA_HUMAN	S	136;111;29	ENSP00000304447:P136S;ENSP00000409550:P111S;ENSP00000392288:P29S	ENSP00000304447:P136S	P	+	1	0	PTCRA	42999971	0.003000	0.15002	0.014000	0.15608	0.474000	0.32979	-0.705000	0.05052	-0.442000	0.07190	0.655000	0.94253	CCC	PTCRA	-	NULL	ENSG00000171611		0.642	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCRA	HGNC	protein_coding	OTTHUMT00000040565.2	45	0.00	0	C	NM_138296		42891993	42891993	+1	no_errors	ENST00000304672	ensembl	human	known	69_37n	missense	45	22.03	13	SNP	0.015	T
PTH2	113091	genome.wustl.edu	37	19	49926530	49926531	+	In_Frame_Ins	INS	-	-	CAG	rs371950649|rs112077618	byFrequency	TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr19:49926530_49926531insCAG	ENST00000270631.1	-	1	167_168	c.66_67insCTG	c.(64-69)ctggtg>ctgCTGgtg	p.22_23insL	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		CAGGGCACCACcagcagcagca	0.688																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64_66dupCTG	19.37:g.49926537_49926539dupCAG	ENSP00000270631:p.Leu22_Leu22dup	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DJ4	In_Frame_Ins	INS	NULL	p.22in_frame_insL	ENST00000270631.1	37	c.67_66	CCDS12763.1	19																																																																																			PTH2	-	NULL	ENSG00000142538		0.688	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2	HGNC	protein_coding	OTTHUMT00000465366.1	15	0.00	0	-	NM_178449		49926530	49926531	-1	no_errors	ENST00000270631	ensembl	human	known	69_37n	in_frame_ins	13	18.75	3	INS	0.016:0.016	CAG
PZP	5858	genome.wustl.edu	37	12	9312950	9312950	+	Silent	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr12:9312950C>T	ENST00000261336.2	-	24	3037	c.3009G>A	c.(3007-3009)acG>acA	p.T1003T	PZP_ENST00000381997.2_Silent_p.T789T|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1003			T -> M (in dbSNP:rs57006764).		female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGATCTCCTGCGTCAGCTGCT	0.428																																					Melanoma(125;1402 1695 4685 34487 38571)	dbGAP											0													128.0	117.0	121.0					12																	9312950		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3009G>A	12.37:g.9312950C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.T1003	ENST00000261336.2	37	c.3009	CCDS8600.1	12																																																																																			PZP	-	superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000126838		0.428	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	200	0.00	0	C	NM_002864		9312950	9312950	-1	no_errors	ENST00000261336	ensembl	human	known	69_37n	silent	130	45.38	108	SNP	0.000	T
PTPRR	5801	genome.wustl.edu	37	12	71054738	71054738	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr12:71054738G>T	ENST00000283228.2	-	12	2200	c.1748C>A	c.(1747-1749)cCt>cAt	p.P583H	PTPRR_ENST00000342084.4_Missense_Mutation_p.P471H|PTPRR_ENST00000549308.1_Missense_Mutation_p.P338H|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000378778.1_Missense_Mutation_p.P377H|PTPRR_ENST00000440835.2_Missense_Mutation_p.P338H	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	583	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GACAACCACAGGCCCTCGGCC	0.527																																						dbGAP											0													112.0	96.0	101.0					12																	71054738		2203	4300	6503	-	-	-	SO:0001583	missense	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1748C>A	12.37:g.71054738G>T	ENSP00000283228:p.Pro583His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.P583H	ENST00000283228.2	37	c.1748	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910700	0.92107	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.52532	D	0.000069	T	0.77916	0.4202	H	0.97051	3.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85446	0.1158	10	0.87932	D	0	-12.6646	19.4938	0.95064	0.0:0.0:1.0:0.0	.	471;377;583	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	H	338;583;377;471;338	ENSP00000391750:P338H;ENSP00000283228:P583H;ENSP00000368054:P377H;ENSP00000339605:P471H;ENSP00000446943:P338H	ENSP00000283228:P583H	P	-	2	0	PTPRR	69341005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.691000	0.91804	0.650000	0.86243	CCT	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000153233		0.527	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	108	0.00	0	G	NM_002849		71054738	71054738	-1	no_errors	ENST00000283228	ensembl	human	known	69_37n	missense	70	33.33	35	SNP	1.000	T
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037867	10037867	+	RNA	SNP	C	C	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chrY:10037867C>T	ENST00000515896.1	+	0	104									RNA, 5.8S ribosomal pseudogene 6																		ACACTTCGAACGCACTTGCGG	0.557																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037867C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.557	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		19	0.00	0	C			10037867	10037867	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	19	32.14	9	SNP	1.000	T
PAK2	5062	genome.wustl.edu	37	3	196511870	196511870	+	Intron	SNP	C	C	T	rs10440165	byFrequency	TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr3:196511870C>T	ENST00000327134.3	+	2	509				RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		gaacgcttcacgaatttgcgt	0.398													-|||	2618	0.522764	0.3835	0.6196	5008	,	,		22363	0.6528		0.5417	False		,,,				2504	0.4888					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.187+2166C>T	3.37:g.196511870C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13154|Q6ISC3	RNA	SNP	-	NULL	ENST00000327134.3	37	NULL	CCDS3321.1	3																																																																																			RNU6-42	-	-	ENSG00000206892		0.398	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNU6-42	HGNC	protein_coding	OTTHUMT00000340548.1	10	0.00	0	C	NM_002577		196511870	196511870	-1	no_errors	ENST00000384165	ensembl	human	known	69_37n	rna	4	50.00	4	SNP	0.000	T
SCN3A	6328	genome.wustl.edu	37	2	166020192	166020192	+	Intron	SNP	G	G	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr2:166020192G>T	ENST00000360093.3	-	7	1186				SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Silent_p.G210G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit						membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGAGACATTGCCCAGGTCCA	0.428																																						dbGAP											0													96.0	91.0	93.0					2																	166020192		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.694+119C>A	2.37:g.166020192G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.G210	ENST00000360093.3	37	c.630		2																																																																																			SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		248	0.00	0	G	NM_006922		166020192	166020192	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	silent	198	23.55	61	SNP	1.000	T
SEMA5A	9037	genome.wustl.edu	37	5	9202316	9202316	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr5:9202316A>C	ENST00000382496.5	-	9	1348	c.683T>G	c.(682-684)tTt>tGt	p.F228C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	228	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GAAGTAGGTAAAATTTCCGAT	0.433																																						dbGAP											0													68.0	68.0	68.0					5																	9202316		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.683T>G	5.37:g.9202316A>C	ENSP00000371936:p.Phe228Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.F228C	ENST00000382496.5	37	c.683	CCDS3875.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.266259|4.266259	0.80358|0.80358	.|.	.|.	ENSG00000112902|ENSG00000112902	ENST00000382496;ENST00000513968|ENST00000514923	T;T|.	0.13657|.	2.57;2.57|.	5.51|5.51	5.51|5.51	0.81932|0.81932	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.79879|0.79879	0.4522|0.4522	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.67900|.	0.954|.	D|D	0.83385|0.83385	0.0014|0.0014	10|6	0.72032|.	D|.	0.01|.	.|.	13.5793|13.5793	0.61893|0.61893	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	228|.	Q13591|.	SEM5A_HUMAN|.	C|L	228|175	ENSP00000371936:F228C;ENSP00000421961:F228C|.	ENSP00000371936:F228C|.	F|F	-|-	2|3	0|2	SEMA5A|SEMA5A	9255316|9255316	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	8.717000|8.717000	0.91425|0.91425	2.104000|2.104000	0.64026|0.64026	0.533000|0.533000	0.62120|0.62120	TTT|TTT	SEMA5A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000112902		0.433	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	78	0.00	0	A			9202316	9202316	-1	no_errors	ENST00000382496	ensembl	human	known	69_37n	missense	109	19.26	26	SNP	1.000	C
SIGLEC16	400709	genome.wustl.edu	37	19	50474928	50474928	+	RNA	SNP	T	T	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr19:50474928T>G	ENST00000602139.1	+	0	1003							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						TTTCAGATCCTCCAGAGAACC	0.592																																						dbGAP											0																																										-	-	-			0			BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474928T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P326	ENST00000602139.1	37	c.978		19																																																																																			SIGLEC16	-	NULL	ENSG00000161643		0.592	SIGLEC16-001	KNOWN	basic	processed_transcript	SIGLEC16	HGNC	pseudogene	OTTHUMT00000464979.1	165	0.00	0	T	NR_002825		50474928	50474928	+1	no_errors	ENST00000456956	ensembl	human	known	69_37n	silent	149	29.72	63	SNP	0.253	G
SLC17A3	10786	genome.wustl.edu	37	6	25862627	25862627	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr6:25862627T>C	ENST00000360657.3	-	3	422	c.137A>G	c.(136-138)cAt>cGt	p.H46R	SLC17A3_ENST00000361703.6_Missense_Mutation_p.H46R|SLC17A3_ENST00000397060.4_Missense_Mutation_p.H46R			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	46					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGCAGAAATGTAAGACGAG	0.383																																						dbGAP											0													207.0	172.0	184.0					6																	25862627		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.137A>G	6.37:g.25862627T>C	ENSP00000353873:p.His46Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.H46R	ENST00000360657.3	37	c.137	CCDS4566.2	6	.	.	.	.	.	.	.	.	.	.	T	10.87	1.471617	0.26423	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.65549	0.33;-0.16;-0.16	3.63	3.63	0.41609	.	0.840614	0.09980	N	0.731085	T	0.61261	0.2333	M	0.74467	2.265	0.09310	N	1	B;P;P;B	0.49090	0.437;0.919;0.844;0.437	B;P;P;B	0.58780	0.108;0.845;0.781;0.108	T	0.50118	-0.8865	10	0.25751	T	0.34	.	8.9386	0.35715	0.0:0.0:0.0:1.0	.	46;27;46;46	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	R	46	ENSP00000380250:H46R;ENSP00000353873:H46R;ENSP00000355307:H46R	ENSP00000353873:H46R	H	-	2	0	SLC17A3	25970606	0.975000	0.34042	0.011000	0.14972	0.057000	0.15508	3.725000	0.54970	1.860000	0.53959	0.460000	0.39030	CAT	SLC17A3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000124564		0.383	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	HGNC	protein_coding	OTTHUMT00000040070.2	191	0.00	0	T			25862627	25862627	-1	no_errors	ENST00000397060	ensembl	human	known	69_37n	missense	186	22.18	53	SNP	0.014	C
SPG11	80208	genome.wustl.edu	37	15	44905735	44905735	+	Splice_Site	SNP	C	C	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr15:44905735C>A	ENST00000261866.7	-	17	3055		c.e17-1		SPG11_ENST00000427534.2_Splice_Site|SPG11_ENST00000558319.1_Splice_Site|SPG11_ENST00000535302.2_Splice_Site	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)						cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGGACTAAGTCTGTATATAAA	0.328																																						dbGAP											0													70.0	67.0	68.0					15																	44905735		2198	4298	6496	-	-	-	SO:0001630	splice_region_variant	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3039-1G>T	15.37:g.44905735C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Splice_Site	SNP	-	e17-1	ENST00000261866.7	37	c.3039-1	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111328	0.77210	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6524	0.91435	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPG11	42693027	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.087000	0.71362	2.941000	0.99782	0.655000	0.94253	.	SPG11	-	-	ENSG00000104133		0.328	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	146	0.00	0	C		Intron	44905735	44905735	-1	no_errors	ENST00000261866	ensembl	human	known	69_37n	splice_site	89	13.59	14	SNP	1.000	A
TCTE1	202500	genome.wustl.edu	37	6	44253808	44253808	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr6:44253808A>T	ENST00000371505.4	-	3	861	c.739T>A	c.(739-741)Tac>Aac	p.Y247N	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.Y94N|TCTE1_ENST00000371504.1_Missense_Mutation_p.Y94N	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	247										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGACATCGTACACCAGGTCC	0.592																																						dbGAP											0													124.0	112.0	116.0					6																	44253808		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.739T>A	6.37:g.44253808A>T	ENSP00000360560:p.Tyr247Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.Y247N	ENST00000371505.4	37	c.739	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271510	0.80469	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.63096	1.72;-0.02;-0.02	4.89	4.89	0.63831	.	0.295966	0.38492	N	0.001678	T	0.73087	0.3542	M	0.79123	2.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.69142	0.962	T	0.78607	-0.2138	10	0.87932	D	0	-15.9363	14.4897	0.67642	1.0:0.0:0.0:0.0	.	247	Q5JU00	TCTE1_HUMAN	N	247;94;94	ENSP00000360560:Y247N;ENSP00000360558:Y94N;ENSP00000360559:Y94N	ENSP00000360558:Y94N	Y	-	1	0	TCTE1	44361786	1.000000	0.71417	0.979000	0.43373	0.951000	0.60555	8.933000	0.92911	1.832000	0.53329	0.379000	0.24179	TAC	TCTE1	-	NULL	ENSG00000146221		0.592	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	80	0.00	0	A	NM_182539		44253808	44253808	-1	no_errors	ENST00000371505	ensembl	human	known	69_37n	missense	108	19.26	26	SNP	1.000	T
TMEM106B	54664	genome.wustl.edu	37	7	12258129	12258129	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr7:12258129G>C	ENST00000396667.3	+	4	585	c.263G>C	c.(262-264)aGa>aCa	p.R88T	TMEM106B_ENST00000396668.3_Missense_Mutation_p.R88T	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	88					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		AGTGATCAGAGATTAAGGCCA	0.279																																						dbGAP											0													105.0	105.0	105.0					7																	12258129		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.263G>C	7.37:g.12258129G>C	ENSP00000379901:p.Arg88Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.R88T	ENST00000396667.3	37	c.263	CCDS5358.1	7	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564094	0.86335	.	.	ENSG00000106460	ENST00000396668;ENST00000444443;ENST00000396667	T;T;T	0.41065	1.01;1.01;1.01	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	M	0.87900	2.915	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.76772	-0.2836	10	0.87932	D	0	.	18.882	0.92358	0.0:0.0:1.0:0.0	.	88	Q9NUM4	T106B_HUMAN	T	88	ENSP00000379902:R88T;ENSP00000401302:R88T;ENSP00000379901:R88T	ENSP00000379901:R88T	R	+	2	0	TMEM106B	12224654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.621000	0.88768	0.650000	0.86243	AGA	TMEM106B	-	pfam_DUF1356_TMEM106	ENSG00000106460		0.279	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106B	HGNC	protein_coding	OTTHUMT00000246870.3	202	0.00	0	G	NM_018374		12258129	12258129	+1	no_errors	ENST00000396667	ensembl	human	known	69_37n	missense	154	21.43	42	SNP	1.000	C
TMPPE	643853	genome.wustl.edu	37	3	33135493	33135493	+	Silent	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr3:33135493G>A	ENST00000342462.4	-	2	385	c.195C>T	c.(193-195)cgC>cgT	p.R65R	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	65						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TCACTGTGCTGCGCCAAATGT	0.572																																						dbGAP											0													39.0	34.0	36.0					3																	33135493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.195C>T	3.37:g.33135493G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNG5|Q6ZRG1	Silent	SNP	pfam_Metallo_PEstase_dom	p.R65	ENST00000342462.4	37	c.195	CCDS33732.1	3																																																																																			TMPPE	-	NULL	ENSG00000188167		0.572	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPPE	HGNC	protein_coding	OTTHUMT00000341566.1	27	0.00	0	G	NM_001039770		33135493	33135493	-1	no_errors	ENST00000342462	ensembl	human	known	69_37n	silent	16	33.33	8	SNP	0.065	A
TRAF7	84231	genome.wustl.edu	37	16	2222552	2222552	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr16:2222552C>A	ENST00000326181.6	+	9	878	c.746C>A	c.(745-747)gCc>gAc	p.A249D		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	249					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AACCTGGAGGCCCACCTCAAG	0.697																																						dbGAP											0													15.0	13.0	14.0					16																	2222552		2168	4283	6451	-	-	-	SO:0001583	missense	0			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.746C>A	16.37:g.2222552C>A	ENSP00000318944:p.Ala249Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H073	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A249D	ENST00000326181.6	37	c.746	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615786	0.46631	.	.	ENSG00000131653	ENST00000326181	T	0.26067	1.76	4.26	3.31	0.37934	Zinc finger, TRAF-type (1);TRAF-like (1);Seven In Absentia Homolog-type (1);	0.110884	0.64402	D	0.000009	T	0.11239	0.0274	N	0.05177	-0.1	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.11060	-1.0603	10	0.13108	T	0.6	-30.4495	11.061	0.47946	0.0:0.9092:0.0:0.0908	.	249	Q6Q0C0	TRAF7_HUMAN	D	249	ENSP00000318944:A249D	ENSP00000318944:A249D	A	+	2	0	TRAF7	2162553	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.808000	0.69165	1.021000	0.39600	0.561000	0.74099	GCC	TRAF7	-	superfamily_TRAF-like,pfscan_Znf_TRAF	ENSG00000131653		0.697	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	11	0.00	0	C	NM_032271		2222552	2222552	+1	no_errors	ENST00000326181	ensembl	human	known	69_37n	missense	6	53.85	7	SNP	1.000	A
VPS13A	23230	genome.wustl.edu	37	9	79955388	79955388	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr9:79955388G>C	ENST00000360280.3	+	50	7208	c.6948G>C	c.(6946-6948)atG>atC	p.M2316I	VPS13A_ENST00000376636.3_Missense_Mutation_p.M2277I|VPS13A_ENST00000376634.4_Missense_Mutation_p.M2316I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M2316I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2316					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTTTATATGATTAAAAACA	0.328																																						dbGAP											0													77.0	81.0	80.0					9																	79955388		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6948G>C	9.37:g.79955388G>C	ENSP00000353422:p.Met2316Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.M2316I	ENST00000360280.3	37	c.6948	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511549	0.27036	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.6	3.74	0.42951	Vacuolar protein sorting-associated protein (1);	0.143629	0.64402	D	0.000009	T	0.12347	0.0300	N	0.12569	0.235	0.80722	D	1	B;B;B;B	0.12013	0.0;0.003;0.005;0.005	B;B;B;B	0.16289	0.001;0.009;0.015;0.009	T	0.08472	-1.0720	10	0.02654	T	1	.	13.1065	0.59249	0.137:0.0:0.863:0.0	.	2277;2316;2316;2316	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	2316;2277;2316;2316	ENSP00000365821:M2316I;ENSP00000365823:M2277I;ENSP00000353422:M2316I;ENSP00000349985:M2316I	ENSP00000349985:M2316I	M	+	3	0	VPS13A	79145208	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.836000	0.62789	1.521000	0.48983	0.650000	0.86243	ATG	VPS13A	-	pfam_VPSAP	ENSG00000197969		0.328	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	122	0.81	1	G	NM_015186		79955388	79955388	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	101	27.46	39	SNP	1.000	C
VSIG10L	147645	genome.wustl.edu	37	19	51841274	51841274	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr19:51841274C>A	ENST00000335624.4	-	6	1917	c.1918G>T	c.(1918-1920)Ggc>Tgc	p.G640C	CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.16_ENST00000594311.1_RNA	NM_001163922.1	NP_001157394.1	Q86VR7	VS10L_HUMAN	V-set and immunoglobulin domain containing 10 like	640						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)	4						CTGAAGTTGCCGATGTGGAGT	0.657																																						dbGAP											0													77.0	73.0	74.0					19																	51841274		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS54300.1	19q13.41	2013-01-11				ENSG00000186806		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27111	protein-coding gene	gene with protein product						12477932	Standard	NM_001163922		Approved		uc002pwf.3	Q86VR7		ENST00000335624.4:c.1918G>T	19.37:g.51841274C>A	ENSP00000335623:p.Gly640Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G640C	ENST00000335624.4	37	c.1918	CCDS54300.1	19	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537573	0.65085	.	.	ENSG00000186806	ENST00000335624	T	0.30182	1.54	4.77	0.968	0.19680	Immunoglobulin-like fold (1);	0.837408	0.10462	N	0.671810	T	0.32763	0.0840	L	0.51422	1.61	0.23708	N	0.997059	D	0.63880	0.993	P	0.51806	0.68	T	0.17379	-1.0371	10	0.56958	D	0.05	-1.7094	3.0016	0.06016	0.0:0.4233:0.2283:0.3483	.	640	Q86VR7	VS10L_HUMAN	C	640	ENSP00000335623:G640C	ENSP00000335623:G640C	G	-	1	0	VSIG10L	56533086	0.262000	0.24073	0.986000	0.45419	0.849000	0.48306	-0.137000	0.10389	0.273000	0.22049	0.462000	0.41574	GGC	VSIG10L	-	NULL	ENSG00000186806		0.657	VSIG10L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VSIG10L	HGNC	protein_coding	OTTHUMT00000464535.1	66	0.00	0	C	NM_001163922		51841274	51841274	-1	no_errors	ENST00000335624	ensembl	human	known	69_37n	missense	54	34.94	29	SNP	0.889	A
WDR76	79968	genome.wustl.edu	37	15	44134845	44134845	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr15:44134845A>C	ENST00000263795.6	+	7	924	c.854A>C	c.(853-855)gAg>gCg	p.E285A	WDR76_ENST00000381246.2_Missense_Mutation_p.E221A	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	285										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AAGAACACTGAGAAGGGATTA	0.289											OREG0003949	type=REGULATORY REGION|Gene=AK124169|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													66.0	69.0	68.0					15																	44134845		2198	4297	6495	-	-	-	SO:0001583	missense	0			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.854A>C	15.37:g.44134845A>C	ENSP00000263795:p.Glu285Ala	Somatic	921	WXS	Illumina GAIIx	Phase_IV	A0MNP5|Q05CI4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E285A	ENST00000263795.6	37	c.854	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	A	13.38	2.221205	0.39201	.	.	ENSG00000092470	ENST00000263795;ENST00000381246;ENST00000452115	D;D;T	0.82984	-1.67;-1.67;0.72	5.08	1.38	0.22167	.	0.759054	0.12639	N	0.451512	T	0.74596	0.3737	L	0.59436	1.845	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.58312	-0.7658	10	0.27785	T	0.31	0.8782	3.2968	0.06969	0.6432:0.0:0.1867:0.1701	.	285	Q9H967	WDR76_HUMAN	A	285;221;221	ENSP00000263795:E285A;ENSP00000370645:E221A;ENSP00000404665:E221A	ENSP00000263795:E285A	E	+	2	0	WDR76	41922137	0.014000	0.17966	0.004000	0.12327	0.730000	0.41778	0.542000	0.23222	0.063000	0.16370	0.383000	0.25322	GAG	WDR76	-	NULL	ENSG00000092470		0.289	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	139	0.00	0	A	NM_024908		44134845	44134845	+1	no_errors	ENST00000263795	ensembl	human	known	69_37n	missense	64	30.43	28	SNP	0.013	C
ZBTB22	9278	genome.wustl.edu	37	6	33282945	33282945	+	Frame_Shift_Del	DEL	C	C	-	rs200053970		TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr6:33282945delC	ENST00000431845.2	-	2	1900	c.1749delG	c.(1747-1749)gggfs	p.G583fs	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.G583fs|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCAAGGATGGCCCCGTGGGAG	0.716																																						dbGAP											0													21.0	24.0	23.0					6																	33282945		2199	4296	6495	-	-	-	SO:0001589	frameshift_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1749delG	6.37:g.33282945delC	ENSP00000407545:p.Gly583fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P584fs	ENST00000431845.2	37	c.1749	CCDS4775.1	6																																																																																			ZBTB22	-	NULL	ENSG00000236104		0.716	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	23	0.00	0	C			33282945	33282945	-1	no_errors	ENST00000418724	ensembl	human	known	69_37n	frame_shift_del	37	28.30	15	DEL	0.003	-
ZEB2	9839	genome.wustl.edu	37	2	145157550	145157550	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr2:145157550C>G	ENST00000558170.2	-	8	2388	c.1204G>C	c.(1204-1206)Gtt>Ctt	p.V402L	ZEB2_ENST00000409487.3_Missense_Mutation_p.V402L|ZEB2_ENST00000303660.4_Missense_Mutation_p.V402L|ZEB2_ENST00000539609.3_Missense_Mutation_p.V378L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	402					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCCATAAGAACTTTATAGTCA	0.423																																					Melanoma(33;1235 1264 5755 16332)	dbGAP											0													90.0	94.0	93.0					2																	145157550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1204G>C	2.37:g.145157550C>G	ENSP00000454157:p.Val402Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.V402L	ENST00000558170.2	37	c.1204	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	6.074	0.381893	0.11524	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.10763	2.85;2.84;2.84;2.93;2.87	5.64	5.64	0.86602	.	0.058531	0.64402	D	0.000002	T	0.03651	0.0104	N	0.00729	-1.24	0.44635	D	0.997614	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.51108	-0.8747	10	0.18276	T	0.48	-8.1767	15.2258	0.73352	0.0:0.8599:0.1401:0.0	.	378;267;401;402	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	L	378;402;402;402;402	ENSP00000443792:V378L;ENSP00000302501:V402L;ENSP00000386854:V402L;ENSP00000395496:V402L;ENSP00000376601:V402L	ENSP00000302501:V402L	V	-	1	0	ZEB2	144874020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.302000	0.65733	2.658000	0.90341	0.655000	0.94253	GTT	ZEB2	-	NULL	ENSG00000169554		0.423	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	132	0.00	0	C	NM_014795		145157550	145157550	-1	no_errors	ENST00000303660	ensembl	human	known	69_37n	missense	90	26.61	33	SNP	1.000	G
ZNF578	147660	genome.wustl.edu	37	19	53014843	53014843	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr19:53014843A>C	ENST00000421239.2	+	6	1453	c.1209A>C	c.(1207-1209)gaA>gaC	p.E403D	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGTGTAATGAATGTGGCAAGG	0.373																																						dbGAP											0													89.0	93.0	91.0					19																	53014843		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1209A>C	19.37:g.53014843A>C	ENSP00000459216:p.Glu403Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR51|I3L1Y6	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.E403D	ENST00000421239.2	37	c.1209	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	2.602	-0.292807	0.05568	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-0.903	0.10534	.	.	.	.	.	T	0.28632	0.0709	L	0.41710	1.295	0.09310	N	1	B	0.24186	0.099	B	0.24006	0.05	T	0.23904	-1.0175	7	.	.	.	.	5.7379	0.18077	0.5113:0.0:0.4887:0.0	.	403	G3V4F6	.	D	403	.	.	E	+	3	2	ZNF578	57706655	0.000000	0.05858	0.259000	0.24435	0.295000	0.27426	-5.707000	0.00103	-0.087000	0.12528	0.246000	0.17985	GAA	ZNF578	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000258405		0.373	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	135	0.00	0	A	NM_152472		53014843	53014843	+1	no_errors	ENST00000421239	ensembl	human	known	69_37n	missense	105	27.59	40	SNP	0.049	C
ZNF670	93474	genome.wustl.edu	37	1	247201519	247201519	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr1:247201519C>G	ENST00000366503.2	-	4	560	c.402G>C	c.(400-402)gaG>gaC	p.E134D		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CTGGACATTCCTCACACTCAA	0.423																																						dbGAP											0													177.0	156.0	163.0					1																	247201519		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.402G>C	1.37:g.247201519C>G	ENSP00000355459:p.Glu134Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		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.E134D	ENST00000366503.2	37	c.402	CCDS31087.1	1	.	.	.	.	.	.	.	.	.	.	C	9.812	1.183543	0.21870	.	.	ENSG00000135747	ENST00000366503	T	0.14893	2.47	0.799	-0.411	0.12370	.	.	.	.	.	T	0.07728	0.0194	N	0.10916	0.065	0.19775	N	0.999951	B	0.02656	0.0	B	0.04013	0.001	T	0.32428	-0.9907	9	0.48119	T	0.1	.	3.9383	0.09314	0.0:0.4674:0.0:0.5326	.	134	Q9BS34	ZN670_HUMAN	D	134	ENSP00000355459:E134D	ENSP00000355459:E134D	E	-	3	2	ZNF670	245268142	0.000000	0.05858	0.018000	0.16275	0.318000	0.28184	-1.026000	0.03596	-0.165000	0.10908	-0.373000	0.07131	GAG	ZNF670	-	NULL	ENSG00000135747		0.423	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF670	HGNC	protein_coding	OTTHUMT00000098183.3	131	0.00	0	C	NM_033213		247201519	247201519	-1	no_errors	ENST00000366503	ensembl	human	known	69_37n	missense	164	15.46	30	SNP	0.984	G
ZNF8	7554	genome.wustl.edu	37	19	58790466	58790466	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AV-01A-31D-A10Y-09	TCGA-BH-A0AV-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9032b7fe-e38a-4641-a45e-67041668adc4	3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94	g.chr19:58790466G>A	ENST00000196548.5	+	1	150	c.19G>A	c.(19-21)Ggg>Agg	p.G7R	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF8_ENST00000608843.1_Missense_Mutation_p.G7R|AC010642.1_ENST00000591325.1_Missense_Mutation_p.G7R|CTD-3138B18.5_ENST00000597230.1_RNA			P17098	ZNF8_HUMAN	zinc finger protein 8	7					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CGAGGACGAAGGGGTAGCGGG	0.657																																						dbGAP											0													26.0	31.0	29.0					19																	58790466		2189	4279	6468	-	-	-	SO:0001583	missense	0			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.19G>A	19.37:g.58790466G>A	ENSP00000196548:p.Gly7Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PI99	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.G7R	ENST00000196548.5	37	c.19	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	5.606	0.296476	0.10622	.	.	ENSG00000083842	ENST00000196548;ENST00000438500	T	0.07327	3.2	3.98	1.8	0.24995	.	0.823352	0.10482	N	0.669422	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.15484	0.013	T	0.45041	-0.9288	10	0.25751	T	0.34	-6.7707	5.8296	0.18572	0.1065:0.1937:0.6998:0.0	.	7	P17098	ZNF8_HUMAN	R	7	ENSP00000196548:G7R	ENSP00000196548:G7R	G	+	1	0	ZNF8	63482278	0.017000	0.18338	0.009000	0.14445	0.005000	0.04900	0.531000	0.23052	0.635000	0.30488	0.555000	0.69702	GGG	ZNF8	-	NULL	ENSG00000083842		0.657	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	57	0.00	0	G	NM_021089		58790466	58790466	+1	no_errors	ENST00000196548	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	0.010	A
