#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
LRRK1	79705	genome.wustl.edu	37	15	101554526	101554526	+	Silent	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr15:101554526C>T	ENST00000388948.3	+	11	1784	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	LRRK1_ENST00000284395.5_Silent_p.L472L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAGGCCCTCATGTTCTTGA	0.547													ENSG00000154237																																					0													84.0	89.0	87.0					15																	101554526		1932	4124	6056	SO:0001819	synonymous_variant	0			-	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1425C>T	15.37:g.101554526C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.L475	ENST00000388948.3	37	c.1425	CCDS42086.1	15																																																																																			-	LRRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.547	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	0	0	0	34	34	73	0.00	0.00	C	NM_024652		101554526	+1	7	13	27	58	tier1	no_errors	ENST00000388948	ensembl	human	known	74_37	silent	20.59	18.31	SNP	0.999	T	7	27
GRAMD4	23151	genome.wustl.edu	37	22	47059047	47059047	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr22:47059047G>A	ENST00000406902.1	+	6	790	c.577G>A	c.(577-579)Gag>Aag	p.E193K	GRAMD4_ENST00000361034.3_Missense_Mutation_p.E193K			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	193					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TGTGGAGACAGAGGAACCCCT	0.677													ENSG00000075240																																					0													55.0	62.0	60.0					22																	47059047		2203	4300	6503	SO:0001583	missense	0			-		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.577G>A	22.37:g.47059047G>A	ENSP00000385689:p.Glu193Lys		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E193K	ENST00000406902.1	37	c.577	CCDS33672.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.148503|4.148503	0.78001|0.78001	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000406902;ENST00000361034|ENST00000456069	T;T|.	0.40225|.	1.04;1.04|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.060085|.	0.64402|.	D|.	0.000007|.	T|T	0.70587|0.70587	0.3241|0.3241	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	P;B|.	0.46142|.	0.873;0.393|.	B;B|.	0.41510|.	0.359;0.121|.	T|T	0.68773|0.68773	-0.5320|-0.5320	10|5	0.52906|.	T|.	0.07|.	-30.4068|-30.4068	16.1456|16.1456	0.81563|0.81563	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	15;193|.	B0QZ08;Q6IC98|.	.;GRAM4_HUMAN|.	K|K	193|15	ENSP00000385689:E193K;ENSP00000354313:E193K|.	ENSP00000354313:E193K|.	E|R	+|+	1|2	0|0	GRAMD4|GRAMD4	45437711|45437711	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.288000|0.288000	0.27193|0.27193	6.678000|6.678000	0.74508|0.74508	2.602000|2.602000	0.87976|0.87976	0.558000|0.558000	0.71614|0.71614	GAG|AGA	-	GRAMD4	-	NULL		0.677	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	0	0	0	86	86	105	0.00	0.00	G	NM_015124		47059047	+1	13	19	64	44	tier1	no_errors	ENST00000361034	ensembl	human	known	74_37	missense	16.88	30.16	SNP	0.999	A	13	64
CENPC	1060	genome.wustl.edu	37	4	68357896	68357896	+	Splice_Site	SNP	A	A	C			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:68357896A>C	ENST00000273853.6	-	16	2766		c.e16+1			NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C						chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										GCCTGATCTTACCCATGAGAA	0.383													ENSG00000145241																																					0													107.0	91.0	96.0					4																	68357896		1833	4086	5919	SO:0001630	splice_region_variant	0			-	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2515+1T>G	4.37:g.68357896A>C			Q8IW27|Q9P0M5	Splice_Site	SNP	-	e16+2	ENST00000273853.6	37	c.2515+2	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587082	0.66105	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3065	0.49338	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPC1	68040491	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.625000	0.61262	2.235000	0.73313	0.460000	0.39030	.	-	CENPC	-	-		0.383	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC	HGNC	protein_coding	OTTHUMT00000362001.2	0	0	0	78	78	39	0.00	0.00	A		Intron	68357896	-1	32	16	57	34	tier1	no_errors	ENST00000273853	ensembl	human	known	74_37	splice_site	35.96	32.00	SNP	1.000	C	32	57
SETX	23064	genome.wustl.edu	37	9	135137998	135137998	+	3'UTR	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr9:135137998C>T	ENST00000224140.5	-	0	9844				SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_3'UTR|SETX_ENST00000372169.2_3'UTR	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin						cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CAGGAAGTCACCTGCTCCCTG	0.527													ENSG00000107290																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.*1628G>A	9.37:g.135137998C>T			A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	R	SNP	-	NULL	ENST00000224140.5	37	NULL	CCDS6947.1	9																																																																																			-	SETX	-	-		0.527	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	0	0	0	37	37	80	0.00	0.00	C	NM_015046		135137998	-1	7	20	24	27	tier1	no_errors	ENST00000477049	ensembl	human	known	74_37	rna	22.58	42.55	SNP	0.000	T	7	24
CR2	1380	genome.wustl.edu	37	1	207649750	207649750	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:207649750C>G	ENST00000367058.3	+	14	2900	c.2711C>G	c.(2710-2712)gCc>gGc	p.A904G	CR2_ENST00000458541.2_Missense_Mutation_p.A877G|CR2_ENST00000367057.3_Missense_Mutation_p.A963G|CR2_ENST00000367059.3_Intron	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	904	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGCCAACCTGCCCCTCATTGT	0.413													ENSG00000117322																																					0													59.0	54.0	55.0					1																	207649750		2203	4300	6503	SO:0001583	missense	0			-	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2711C>G	1.37:g.207649750C>G	ENSP00000356025:p.Ala904Gly		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.A963G	ENST00000367058.3	37	c.2888	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374802	0.42105	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000458541	T;T;T	0.65732	-0.17;-0.17;-0.17	4.87	-1.35	0.09114	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67496	0.2899	M	0.90145	3.09	0.09310	N	1	B;P	0.36616	0.368;0.561	B;P	0.45610	0.426;0.487	T	0.58973	-0.7541	9	0.29301	T	0.29	.	2.7925	0.05392	0.3329:0.3403:0.0:0.3268	.	904;963	P20023;P20023-3	CR2_HUMAN;.	G	904;963;877	ENSP00000356025:A904G;ENSP00000356024:A963G;ENSP00000404222:A877G	ENSP00000356024:A963G	A	+	2	0	CR2	205716373	0.000000	0.05858	0.033000	0.17914	0.855000	0.48748	-0.409000	0.07160	-0.027000	0.13873	0.655000	0.94253	GCC	-	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.413	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	0	0	0	77	77	82	0.00	0.00	C	NM_001877		207649750	+1	14	32	33	60	tier1	no_errors	ENST00000367057	ensembl	human	known	74_37	missense	29.79	34.78	SNP	0.106	G	14	33
HAUS7	55559	genome.wustl.edu	37	X	152721042	152721042	+	Silent	SNP	G	G	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chrX:152721042G>A	ENST00000370211.4	-	8	961	c.918C>T	c.(916-918)ccC>ccT	p.P306P	TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370212.3_Silent_p.P306P|TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000421080.2_Missense_Mutation_p.P128L	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	306					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CCTGGATGATGGGGCCGCACG	0.622													ENSG00000213397																																					0													88.0	69.0	75.0					X																	152721042		2203	4298	6501	SO:0001819	synonymous_variant	0			-	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.918C>T	X.37:g.152721042G>A			B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	NULL	p.P128L	ENST00000370211.4	37	c.383	CCDS35438.1	X	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287466	0.40494	.	.	ENSG00000213397	ENST00000435662;ENST00000421080	T	0.26957	1.7	4.99	4.07	0.47477	.	0.319686	0.33309	N	0.005042	T	0.25531	0.0621	.	.	.	0.33026	D	0.529479	.	.	.	.	.	.	T	0.24190	-1.0167	7	0.24483	T	0.36	-25.7866	10.1883	0.43011	0.0:0.0:0.8024:0.1976	.	.	.	.	L	90;128	ENSP00000389431:P90L	ENSP00000395447:P128L	P	-	2	0	HAUS7	152374236	0.677000	0.27577	0.975000	0.42487	0.390000	0.30446	0.637000	0.24659	2.221000	0.72209	0.292000	0.19580	CCA	-	HAUS7	-	NULL		0.622	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HAUS7	HGNC	protein_coding	OTTHUMT00000060963.2	0	0	0	118	118	51	0.00	0.00	G	NM_017518		152721042	-1	31	17	67	27	tier1	no_errors	ENST00000421080	ensembl	human	known	74_37	missense	31.31	38.64	SNP	0.936	A	31	67
LRRC42	115353	genome.wustl.edu	37	1	54427720	54427720	+	Silent	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:54427720C>T	ENST00000371370.3	+	6	1259	c.738C>T	c.(736-738)atC>atT	p.I246I	LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Silent_p.I246I	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	246										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACCCTGAGATCACAGATGCAG	0.398													ENSG00000116212																																					0													144.0	139.0	141.0					1																	54427720		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.738C>T	1.37:g.54427720C>T			D3DQ46|Q8N2Q8	Silent	SNP	NULL	p.I246	ENST00000371370.3	37	c.738	CCDS585.1	1																																																																																			-	LRRC42	-	NULL		0.398	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	0	0	0	90	90	130	0.00	0.00	C	NM_052940		54427720	+1	40	40	108	90	tier1	no_errors	ENST00000319223	ensembl	human	known	74_37	silent	27.03	30.77	SNP	1.000	T	40	108
LRRC42	115353	genome.wustl.edu	37	1	54427946	54427946	+	Intron	SNP	C	C	G			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:54427946C>G	ENST00000371370.3	+	7	1334				LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Intron	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42											breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ATTTGCATTTCTGATCTGTCT	0.388													ENSG00000116212																																					0													71.0	68.0	69.0					1																	54427946		2203	4300	6503	SO:0001627	intron_variant	0			-	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.814-23C>G	1.37:g.54427946C>G			D3DQ46|Q8N2Q8	R	SNP	-	NULL	ENST00000371370.3	37	NULL	CCDS585.1	1																																																																																			-	LRRC42	-	-		0.388	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	0	0	0	78	78	124	0.00	0.00	C	NM_052940		54427946	+1	35	52	102	95	tier1	no_errors	ENST00000477905	ensembl	human	known	74_37	rna	25.55	35.14	SNP	0.011	G	35	102
DMBT1	1755	genome.wustl.edu	37	10	124336090	124336090	+	Silent	SNP	A	A	G			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr10:124336090A>G	ENST00000338354.3	+	7	565	c.459A>G	c.(457-459)ggA>ggG	p.G153G	DMBT1_ENST00000330163.4_Silent_p.G153G|DMBT1_ENST00000344338.3_Silent_p.G153G|DMBT1_ENST00000359586.6_Silent_p.G153G|DMBT1_ENST00000368909.3_Silent_p.G153G|DMBT1_ENST00000368955.3_Silent_p.G153G|DMBT1_ENST00000368956.2_Silent_p.G153G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	153	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGCTCCAGGAAATGCCTGGT	0.612													ENSG00000187908																									Ovarian(182;93 2026 18125 22222 38972)												0													152.0	156.0	155.0					10																	124336090		2102	4250	6352	SO:0001819	synonymous_variant	0			-		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.459A>G	10.37:g.124336090A>G			A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.G153	ENST00000338354.3	37	c.459		10																																																																																			-	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	1	1	0	219	219	31	0.45	0.00	A	NM_004406		124336090	+1	55	13	27	10	tier1	no_errors	ENST00000338354	ensembl	human	known	74_37	silent	67.07	56.52	SNP	0.000	G	55	27
TEX13B	56156	genome.wustl.edu	37	X	107224536	107224536	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chrX:107224536G>T	ENST00000302917.1	-	3	805	c.713C>A	c.(712-714)gCa>gAa	p.A238E		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	238										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TTCTCCCTCTGCCCCGCAAAG	0.597													ENSG00000170925																																					0													149.0	133.0	139.0					X																	107224536		2199	4300	6499	SO:0001583	missense	0			-	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.713C>A	X.37:g.107224536G>T	ENSP00000303777:p.Ala238Glu		Q5JYF6	Missense_Mutation	SNP	NULL	p.A238E	ENST00000302917.1	37	c.713	CCDS14534.1	X	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281596	0.23392	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.29	2.39	0.29439	.	.	.	.	.	T	0.41050	0.1142	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.70487	0.969	T	0.17349	-1.0372	8	0.26408	T	0.33	.	7.4411	0.27183	0.0:0.2635:0.7365:0.0	.	238	Q9BXU2	TX13B_HUMAN	E	238	.	ENSP00000303777:A238E	A	-	2	0	TEX13B	107111192	0.000000	0.05858	0.120000	0.21714	0.109000	0.19521	-0.104000	0.10923	0.740000	0.32651	0.594000	0.82650	GCA	-	TEX13B	-	NULL		0.597	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX13B	HGNC	protein_coding	OTTHUMT00000057857.1	0	0	0	52	52	83	0.00	0.00	G			107224536	-1	14	22	24	41	tier1	no_errors	ENST00000302917	ensembl	human	known	74_37	missense	35.90	34.92	SNP	0.090	T	14	24
PRRX1	5396	genome.wustl.edu	37	1	170705412	170705412	+	3'UTR	SNP	G	G	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:170705412G>T	ENST00000239461.6	+	0	1136				PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1						artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATCTGCTGGGGGGAAAAAGT	0.358													ENSG00000116132																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.*85G>T	1.37:g.170705412G>T			B5BUM7|O60807	R	SNP	-	NULL	ENST00000239461.6	37	NULL	CCDS1290.1	1																																																																																			-	PRRX1	-	-		0.358	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	0	0	0	56	56	65	0.00	0.00	G	NM_006902		170705412	+1	32	30	55	34	tier1	no_errors	ENST00000476867	ensembl	human	known	74_37	rna	36.78	46.88	SNP	0.550	T	32	55
CDH6	1004	genome.wustl.edu	37	5	31323298	31323298	+	Silent	SNP	G	G	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr5:31323298G>A	ENST00000265071.2	+	12	2521	c.2256G>A	c.(2254-2256)tcG>tcA	p.S752S		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	752					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCTGAGCTCGCTGGAGTCAG	0.532													ENSG00000113361																																					0													55.0	51.0	52.0					5																	31323298		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2256G>A	5.37:g.31323298G>A			A8K5H5|Q9BWS0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S752	ENST00000265071.2	37	c.2256	CCDS3894.1	5																																																																																			-	CDH6	-	pfam_Cadherin_cytoplasmic-dom		0.532	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	0	0	0	56	56	59	0.00	0.00	G	NM_004932		31323298	+1	35	34	32	33	tier1	no_errors	ENST00000265071	ensembl	human	known	74_37	silent	52.24	50.75	SNP	0.985	A	35	32
CHL1	10752	genome.wustl.edu	37	3	369953	369953	+	Missense_Mutation	SNP	T	T	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr3:369953T>A	ENST00000256509.2	+	5	943	c.301T>A	c.(301-303)Tct>Act	p.S101T	CHL1_ENST00000397491.2_Missense_Mutation_p.S101T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGGGCACATATCTCACTTTCA	0.403													ENSG00000134121																																					0													128.0	127.0	127.0					3																	369953		2203	4300	6503	SO:0001583	missense	0			-	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.301T>A	3.37:g.369953T>A	ENSP00000256509:p.Ser101Thr		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S101T	ENST00000256509.2	37	c.301	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	T	12.43	1.936064	0.34189	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000435603	T;T;T	0.72051	1.11;1.11;-0.62	5.02	-5.22	0.02806	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.273852	0.34156	N	0.004207	T	0.44265	0.1285	N	0.13003	0.285	0.09310	N	0.999995	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.008;0.004	T	0.28396	-1.0045	10	0.35671	T	0.21	.	8.7513	0.34618	0.1532:0.0:0.4943:0.3524	.	101;101;101	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	T	101	ENSP00000256509:S101T;ENSP00000380628:S101T;ENSP00000397445:S101T	ENSP00000256509:S101T	S	+	1	0	CHL1	344953	0.782000	0.28689	0.603000	0.28903	0.991000	0.79684	0.397000	0.20883	-0.387000	0.07809	0.533000	0.62120	TCT	-	CHL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.403	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	0	0	0	78	78	137	0.00	0.00	T	NM_006614		369953	+1	24	52	42	95	tier1	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	36.36	34.90	SNP	0.037	A	24	42
SP110	3431	genome.wustl.edu	37	2	231036818	231036818	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:231036818C>G	ENST00000358662.4	-	16	1857	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	SP110_ENST00000258381.6_Missense_Mutation_p.K593N|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000600787.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	593	Bromo.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTCCAGGGTCTTAGATACAT	0.517													ENSG00000135899																																					0													163.0	152.0	155.0					2																	231036818		2203	4300	6503	SO:0001583	missense	0			-	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1779G>C	2.37:g.231036818C>G	ENSP00000351488:p.Lys593Asn		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.K593N	ENST00000358662.4	37	c.1779	CCDS2474.1	2	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045964	0.19748	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	T;T	0.43294	0.96;0.95	3.42	2.53	0.30540	Bromodomain (2);	.	.	.	.	T	0.19765	0.0475	N	0.08118	0	0.09310	N	0.999997	B;B	0.34161	0.436;0.439	B;B	0.27380	0.057;0.079	T	0.09596	-1.0667	9	0.45353	T	0.12	.	7.2417	0.26100	0.0:0.8668:0.0:0.1332	.	593;593	Q9HB58;Q9HB58-6	SP110_HUMAN;.	N	593	ENSP00000258381:K593N;ENSP00000351488:K593N	ENSP00000258381:K593N	K	-	3	2	SP110	230745062	0.031000	0.19500	0.006000	0.13384	0.022000	0.10575	2.916000	0.48813	0.736000	0.32559	0.563000	0.77884	AAG	-	SP110	-	superfamily_Bromodomain		0.517	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	HGNC	protein_coding	OTTHUMT00000332414.1	0	0	0	45	45	81	0.00	0.00	C	NM_080424		231036818	-1	11	36	30	49	tier1	no_errors	ENST00000258381	ensembl	human	known	74_37	missense	26.83	42.35	SNP	0.004	G	11	30
OR51E1	143503	genome.wustl.edu	37	11	4673791	4673791	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr11:4673791C>A	ENST00000530215.1	+	1	76	c.35C>A	c.(34-36)gCt>gAt	p.A12D	OR51E1_ENST00000396952.5_Missense_Mutation_p.A12D			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATCCAGTGCTACATACTTC	0.493													ENSG00000180785																																					0													262.0	192.0	216.0					11																	4673791		2201	4298	6499	SO:0001583	missense	0			-	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000530215.1:c.35C>A	11.37:g.4673791C>A	ENSP00000431593:p.Ala12Asp		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A12D	ENST00000530215.1	37	c.35		11	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319148	0.23994	.	.	ENSG00000180785	ENST00000396952;ENST00000530215	T;T	0.00325	8.1;8.1	4.74	2.84	0.33178	.	0.249489	0.28209	N	0.016195	T	0.00178	0.0005	L	0.34521	1.04	0.33700	D	0.614395	B	0.19583	0.037	B	0.20955	0.032	T	0.49224	-0.8962	10	0.72032	D	0.01	.	5.4137	0.16361	0.1597:0.6672:0.0:0.1731	.	11	Q8TCB6	O51E1_HUMAN	D	12	ENSP00000380155:A12D;ENSP00000431593:A12D	ENSP00000380155:A12D	A	+	2	0	OR51E1	4630367	0.049000	0.20398	0.744000	0.31058	0.402000	0.30811	2.310000	0.43708	0.587000	0.29643	0.563000	0.77884	GCT	-	OR51E1	-	NULL		0.493	OR51E1-002	PUTATIVE	basic|exp_conf	protein_coding	OR51E1	HGNC	protein_coding	OTTHUMT00000385957.1	0	0	0	67	67	137	0.00	0.00	C	NM_152430		4673791	+1	21	32	39	69	tier1	no_errors	ENST00000396952	ensembl	human	known	74_37	missense	35.00	31.37	SNP	0.749	A	21	39
SERPINF2	5345	genome.wustl.edu	37	17	1657573	1657573	+	Silent	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr17:1657573C>T	ENST00000324015.3	+	10	1298	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	SERPINF2_ENST00000450523.2_Silent_p.S343S|SERPINF2_ENST00000382061.4_Silent_p.S407S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	407					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TGTCCCTGTCCTCCTTCAGCG	0.652													ENSG00000167711																																					0													149.0	123.0	132.0					17																	1657573		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1221C>T	17.37:g.1657573C>T			B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S407	ENST00000324015.3	37	c.1221	CCDS11011.1	17																																																																																			-	SERPINF2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.652	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF2	HGNC	protein_coding	OTTHUMT00000207078.3	0	0	0	63	63	65	0.00	0.00	C	NM_000934		1657573	+1	25	23	8	11	tier1	no_errors	ENST00000324015	ensembl	human	known	74_37	silent	75.76	67.65	SNP	0.066	T	25	8
TMCO4	255104	genome.wustl.edu	37	1	20027301	20027301	+	Missense_Mutation	SNP	G	G	A	rs144254063		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:20027301G>A	ENST00000294543.6	-	14	1583	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	TMCO4_ENST00000375122.2_Missense_Mutation_p.R408W|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.R448W	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	448						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ACCACCTTCCGGAAAGGCTCC	0.567													ENSG00000162542																																					0								G	TRP/ARG	0,4406		0,0,2203	137.0	116.0	123.0		1342	4.6	1.0	1	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMCO4	NM_181719.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	448/635	20027301	1,13005	2203	4300	6503	SO:0001583	missense	0			-		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1342C>T	1.37:g.20027301G>A	ENSP00000294543:p.Arg448Trp		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.R448W	ENST00000294543.6	37	c.1342	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144479	0.77888	0.0	1.16E-4	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.53423	0.62;0.62;0.62	5.58	4.56	0.56223	.	0.254426	0.28349	N	0.015665	T	0.66117	0.2757	M	0.77486	2.375	0.35712	D	0.81645	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.978;0.978;0.977	T	0.74542	-0.3631	10	0.72032	D	0.01	-16.9222	10.7428	0.46162	0.0:0.0:0.6984:0.3016	.	32;448;408	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	W	448;448;408	ENSP00000294543:R448W;ENSP00000364269:R448W;ENSP00000364264:R408W	ENSP00000294543:R448W	R	-	1	2	TMCO4	19899888	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.895000	0.28363	2.806000	0.96561	0.655000	0.94253	CGG	rs144254063	TMCO4	-	pfam_DUF726,pfam_DUF900_hydrolase		0.567	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	0	0	0	65	65	85	0.00	0.00	G	NM_181719		20027301	-1	15	26	44	88	tier1	no_errors	ENST00000294543	ensembl	human	known	74_37	missense	25.42	22.81	SNP	1.000	A	15	44
SPTBN4	57731	genome.wustl.edu	37	19	40978532	40978532	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr19:40978532G>A	ENST00000352632.3	+	2	90	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2T|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2	Actin-binding.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCCCCGATGGCGCAGGTACC	0.592													ENSG00000160460																																					0													48.0	35.0	40.0					19																	40978532		2203	4300	6503	SO:0001583	missense	0			-	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4G>A	19.37:g.40978532G>A	ENSP00000263373:p.Ala2Thr		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A2T	ENST00000352632.3	37	c.4	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284168	0.40394	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.80123	-1.34;-1.26;-1.31	5.91	5.91	0.95273	.	0.229203	0.25991	U	0.027010	T	0.81399	0.4814	N	0.22421	0.69	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.75525	-0.3287	10	0.12766	T	0.61	.	15.7986	0.78433	0.0:0.0:1.0:0.0	.	2;2	Q9H254;Q71S06	SPTN4_HUMAN;.	T	2	ENSP00000263373:A2T;ENSP00000340345:A2T;ENSP00000340741:A2T	ENSP00000340345:A2T	A	+	1	0	SPTBN4	45670372	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	4.641000	0.61375	2.793000	0.96121	0.655000	0.94253	GCG	-	SPTBN4	-	pirsf_Spectrin_bsu		0.592	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	0	0	0	93	93	145	0.00	0.00	G			40978532	+1	16	49	13	19	tier1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	55.17	72.06	SNP	1.000	A	16	13
TEC	7006	genome.wustl.edu	37	4	48165756	48165756	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:48165756C>T	ENST00000381501.3	-	8	857	c.700G>A	c.(700-702)Gta>Ata	p.V234I		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	234	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.V234I(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TTTCCCGTTACGTAATTACTT	0.279													ENSG00000135605																																					1	Substitution - Missense(1)	large_intestine(1)											69.0	62.0	64.0					4																	48165756		2188	4269	6457	SO:0001583	missense	0			-	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.700G>A	4.37:g.48165756C>T	ENSP00000370912:p.Val234Ile		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.V234I	ENST00000381501.3	37	c.700	CCDS3481.1	4	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719590	0.68844	.	.	ENSG00000135605	ENST00000381501	T	0.29142	1.58	5.69	5.69	0.88448	Src homology-3 domain (3);	0.129327	0.51477	D	0.000096	T	0.58878	0.2153	M	0.75447	2.3	0.48696	D	0.999698	D	0.89917	1.0	D	0.80764	0.994	T	0.59295	-0.7481	10	0.59425	D	0.04	.	19.7977	0.96492	0.0:1.0:0.0:0.0	.	234	P42680	TEC_HUMAN	I	234	ENSP00000370912:V234I	ENSP00000370912:V234I	V	-	1	0	TEC	47860513	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.626000	0.67777	2.692000	0.91855	0.491000	0.48974	GTA	-	TEC	-	pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.279	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEC	HGNC	protein_coding	OTTHUMT00000250492.3	0	0	0	93	93	99	0.00	0.00	C			48165756	-1	31	27	64	50	tier1	no_errors	ENST00000381501	ensembl	human	known	74_37	missense	32.63	35.06	SNP	1.000	T	31	64
CENPU	79682	genome.wustl.edu	37	4	185637744	185637744	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:185637744A>G	ENST00000281453.5	-	6	495	c.425T>C	c.(424-426)aTt>aCt	p.I142T	MLF1IP_ENST00000506535.1_5'Flank|MLF1IP_ENST00000541971.1_Missense_Mutation_p.I142T	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		ACTTTCTTCAATGCTTTCAGA	0.373													ENSG00000151725																																					0													112.0	100.0	104.0					4																	185637744		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000281453.5:c.425T>C	4.37:g.185637744A>G	ENSP00000281453:p.Ile142Thr			Missense_Mutation	SNP	NULL	p.I142T	ENST00000281453.5	37	c.425	CCDS3838.1	4	.	.	.	.	.	.	.	.	.	.	a	0.011	-1.733385	0.00687	.	.	ENSG00000151725	ENST00000281453;ENST00000541665;ENST00000541971;ENST00000514781	T;T;T	0.39056	2.67;2.67;1.1	4.06	-4.44	0.03557	.	2.287230	0.02124	N	0.055872	T	0.14700	0.0355	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42258	-0.9462	10	0.02654	T	1	-14.7721	9.6878	0.40109	0.1788:0.6338:0.1874:0.0	.	142;142	Q09GN1;Q71F23	.;CENPU_HUMAN	T	142;142;142;113	ENSP00000281453:I142T;ENSP00000445862:I142T;ENSP00000423167:I113T	ENSP00000281453:I142T	I	-	2	0	MLF1IP	185874738	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.706000	0.05047	-0.928000	0.03761	-0.394000	0.06481	ATT	-	MLF1IP	-	NULL		0.373	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLF1IP	HGNC	protein_coding	OTTHUMT00000360841.2	0	0	0	81	81	95	0.00	0.00	A			185637744	-1	22	20	49	59	tier1	no_errors	ENST00000281453	ensembl	human	known	74_37	missense	30.99	25.32	SNP	0.000	G	22	49
IL17A	3605	genome.wustl.edu	37	6	52053855	52053855	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr6:52053855G>A	ENST00000340057.1	+	3	278	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	78					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CTCTGCAGCCGCAATGAGGAC	0.493													ENSG00000112115																																					0													40.0	40.0	40.0					6																	52053855		2203	4300	6503	SO:0001583	missense	0			-	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.233G>A	6.37:g.52053855G>A	ENSP00000344192:p.Arg78His		Q5T2P0	Missense_Mutation	SNP	pfam_IL-17_fam,prints_IL-17_chr	p.R78H	ENST00000340057.1	37	c.233	CCDS4937.1	6	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025045	0.54683	.	.	ENSG00000112115	ENST00000340057	T	0.55413	0.52	5.64	0.119	0.14685	.	0.513598	0.19749	N	0.106959	T	0.40272	0.1110	M	0.62723	1.935	0.09310	N	1	D	0.59767	0.986	P	0.57846	0.828	T	0.13072	-1.0523	10	0.42905	T	0.14	-20.7789	3.2898	0.06945	0.0795:0.2062:0.2558:0.4585	.	78	Q16552	IL17_HUMAN	H	78	ENSP00000344192:R78H	ENSP00000344192:R78H	R	+	2	0	IL17A	52161814	0.076000	0.21285	0.965000	0.40720	0.737000	0.42083	1.497000	0.35649	0.677000	0.31305	0.609000	0.83330	CGC	-	IL17A	-	pfam_IL-17_fam,prints_IL-17_chr		0.493	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17A	HGNC	protein_coding	OTTHUMT00000040892.1	0	0	0	50	50	86	0.00	0.00	G	NM_002190		52053855	+1	14	36	18	56	tier1	no_errors	ENST00000340057	ensembl	human	known	74_37	missense	43.75	39.13	SNP	0.024	A	14	18
BNC1	646	genome.wustl.edu	37	15	83935620	83935620	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr15:83935620G>T	ENST00000345382.2	-	3	488	c.403C>A	c.(403-405)Ctt>Att	p.L135I	BNC1_ENST00000569704.1_Missense_Mutation_p.L128I|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	135					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TAATCCTGAAGTGTCCAGTCC	0.478													ENSG00000169594																																					0													141.0	136.0	137.0					15																	83935620		2203	4300	6503	SO:0001583	missense	0			-	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.403C>A	15.37:g.83935620G>T	ENSP00000307041:p.Leu135Ile		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L135I	ENST00000345382.2	37	c.403	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.241420	0.95272	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.03860	3.78	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	T	0.00007	-1.2500	10	0.66056	D	0.02	-20.5593	19.9142	0.97043	0.0:0.0:1.0:0.0	.	128;135	F5GY04;Q01954	.;BNC1_HUMAN	I	135;128	ENSP00000307041:L135I	ENSP00000307041:L135I	L	-	1	0	BNC1	81726624	1.000000	0.71417	0.957000	0.39632	0.977000	0.68977	7.691000	0.84191	2.941000	0.99782	0.655000	0.94253	CTT	-	BNC1	-	NULL		0.478	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	0	0	0	76	76	91	0.00	0.00	G	NM_001717		83935620	-1	26	18	61	92	tier1	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	29.89	16.36	SNP	1.000	T	26	61
OGDH	4967	genome.wustl.edu	37	7	44695959	44695959	+	Intron	SNP	G	G	C			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr7:44695959G>C	ENST00000222673.5	+	4	559				OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Missense_Mutation_p.G123A|OGDH_ENST00000447398.1_Missense_Mutation_p.G183A|OGDH_ENST00000444676.1_Missense_Mutation_p.G187A|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000443864.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTAACAGTAGGAGGTATGAAA	0.433													ENSG00000105953																																					0																																										SO:0001627	intron_variant	0			-	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.517+8601G>C	7.37:g.44695959G>C			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.G123A	ENST00000222673.5	37	c.368	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072159	0.36566	.	.	ENSG00000105953	ENST00000447398;ENST00000444676;ENST00000543843	T;T;T	0.04970	3.52;3.52;3.52	5.78	5.78	0.91487	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.45704	D	0.998614	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.981	T	0.02326	-1.1176	8	0.16896	T	0.51	.	19.6167	0.95636	0.0:0.0:1.0:0.0	.	183;74	E9PDF2;A2VCT2	.;.	A	183;187;123	ENSP00000388183:G183A;ENSP00000414662:G187A;ENSP00000443821:G123A	ENSP00000414662:G187A	G	+	2	0	OGDH	44662484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.818000	0.91991	2.741000	0.93983	0.555000	0.69702	GGA	-	OGDH	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.433	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	0	0	0	106	106	88	0.00	0.00	G			44695959	+1	26	23	34	52	tier1	no_errors	ENST00000543843	ensembl	human	known	74_37	missense	43.33	30.67	SNP	1.000	C	26	34
HS3ST1	9957	genome.wustl.edu	37	4	11401038	11401038	+	Missense_Mutation	SNP	C	C	T	rs202015819		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:11401038C>T	ENST00000002596.5	-	2	1766	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	198					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TGCATGTGCACGTGGTAGAGG	0.597													ENSG00000002587	C|||	1	0.000199681	0.0008	0.0	5008	,	,		18698	0.0		0.0	False		,,,				2504	0.0																0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	60.0	56.0	57.0		592	2.4	1.0	4		57	0,8600		0,0,4300	no	missense	HS3ST1	NM_005114.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	198/308	11401038	1,13005	2203	4300	6503	SO:0001583	missense	0			GMAF=0	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.592G>A	4.37:g.11401038C>T	ENSP00000002596:p.Val198Met		B3KUA6|Q6PEY8	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.V198M	ENST00000002596.5	37	c.592	CCDS3408.1	4	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.35	1.326398	0.24080	2.27E-4	0.0	ENSG00000002587	ENST00000002596	D	0.82255	-1.59	5.61	2.37	0.29283	Sulfotransferase domain (1);	1.002150	0.08039	N	0.994758	T	0.74898	0.3777	L	0.45352	1.415	0.36031	D	0.83941	D	0.54601	0.967	B	0.42319	0.383	T	0.72261	-0.4345	10	0.41790	T	0.15	.	3.822	0.08839	0.2057:0.3122:0.3951:0.087	.	198	O14792	HS3S1_HUMAN	M	198	ENSP00000002596:V198M	ENSP00000002596:V198M	V	-	1	0	HS3ST1	11010136	0.948000	0.32251	0.998000	0.56505	0.906000	0.53458	-0.011000	0.12721	0.784000	0.33661	0.655000	0.94253	GTG	rs202015819	HS3ST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.597	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3	0	0	0	14	14	63	0.00	0.00	C	NM_005114		11401038	-1	7	28	7	28	tier1	no_errors	ENST00000002596	ensembl	human	known	74_37	missense	50.00	50.00	SNP	0.949	T	7	7
STARD4	134429	genome.wustl.edu	37	5	110837715	110837715	+	Missense_Mutation	SNP	C	C	T	rs143239767	byFrequency	TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr5:110837715C>T	ENST00000296632.3	-	4	361	c.227G>A	c.(226-228)cGt>cAt	p.R76H	STARD4_ENST00000512160.1_Intron|STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000509887.1_Intron|STARD4_ENST00000502322.1_Missense_Mutation_p.R76H	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	76	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CCAATCCAAACGACAAGGCCC	0.393													ENSG00000164211	C|||	2	0.000399361	0.0015	0.0	5008	,	,		18449	0.0		0.0	False		,,,				2504	0.0																0								C	HIS/ARG	8,4396	14.3+/-33.2	0,8,2194	138.0	145.0	142.0		227	5.9	1.0	5	dbSNP_134	142	0,8600		0,0,4300	yes	missense	STARD4	NM_139164.1	29	0,8,6494	TT,TC,CC		0.0,0.1817,0.0615	probably-damaging	76/206	110837715	8,12996	2202	4300	6502	SO:0001583	missense	0			GMAF=0.0005	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.227G>A	5.37:g.110837715C>T	ENSP00000296632:p.Arg76His		Q86TN9	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.R76H	ENST00000296632.3	37	c.227	CCDS4104.1	5	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	23.8	4.464260	0.84425	0.001817	0.0	ENSG00000164211	ENST00000296632;ENST00000505803;ENST00000502322	T;T;T	0.54279	0.58;0.58;0.58	5.94	5.94	0.96194	Lipid-binding START (2);START-like domain (1);	0.000000	0.64402	D	0.000002	T	0.59074	0.2167	M	0.76002	2.32	0.80722	D	1	P;D	0.54772	0.889;0.968	B;B	0.42495	0.243;0.389	T	0.63919	-0.6528	10	0.49607	T	0.09	-8.936	20.3501	0.98811	0.0:1.0:0.0:0.0	.	76;76	Q86TN9;Q96DR4	.;STAR4_HUMAN	H	76	ENSP00000296632:R76H;ENSP00000427478:R76H;ENSP00000427639:R76H	ENSP00000296632:R76H	R	-	2	0	STARD4	110865614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.031000	0.70911	2.821000	0.97095	0.655000	0.94253	CGT	rs143239767	STARD4	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom		0.393	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD4	HGNC	protein_coding	OTTHUMT00000250720.1	0	0	0	72	72	118	0.00	0.00	C	NM_139164		110837715	-1	70	75	60	43	tier1	no_errors	ENST00000296632	ensembl	human	known	74_37	missense	53.85	63.56	SNP	1.000	T	70	60
ANGPT4	51378	genome.wustl.edu	37	20	896733	896733	+	Missense_Mutation	SNP	T	T	G			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr20:896733T>G	ENST00000381922.3	-	1	227	c.125A>C	c.(124-126)cAc>cCc	p.H42P	ANGPT4_ENST00000546022.1_Missense_Mutation_p.H42P	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	42					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTAGCTACAGTGGCCGTGCTG	0.612													ENSG00000101280																									Pancreas(181;481 2077 3259 31286 49856)												0													113.0	107.0	109.0					20																	896733		2203	4300	6503	SO:0001583	missense	0			-	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.125A>C	20.37:g.896733T>G	ENSP00000371347:p.His42Pro		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.H42P	ENST00000381922.3	37	c.125	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	T	5.214	0.225040	0.09916	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13307	2.6;2.6	4.57	3.43	0.39272	.	0.162448	0.28996	N	0.013480	T	0.04588	0.0125	N	0.04090	-0.28	0.25384	N	0.98859	P;P	0.35363	0.497;0.497	B;B	0.25614	0.062;0.062	T	0.36163	-0.9759	10	0.26408	T	0.33	.	7.1584	0.25651	0.1989:0.0:0.0:0.8011	.	42;42	B4E3J9;Q9Y264	.;ANGP4_HUMAN	P	42	ENSP00000371347:H42P;ENSP00000439605:H42P	ENSP00000371347:H42P	H	-	2	0	ANGPT4	844733	0.976000	0.34144	1.000000	0.80357	0.472000	0.32918	0.721000	0.25911	0.751000	0.32900	0.254000	0.18369	CAC	-	ANGPT4	-	NULL		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	0	0	0	36	36	56	0.00	0.00	T	NM_015985		896733	-1	7	12	10	36	tier1	no_errors	ENST00000381922	ensembl	human	known	74_37	missense	41.18	24.49	SNP	1.000	G	7	10
CLN6	54982	genome.wustl.edu	37	15	68504112	68504112	+	Silent	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr15:68504112C>T	ENST00000249806.5	-	4	544	c.387G>A	c.(385-387)gtG>gtA	p.V129V	CLN6_ENST00000565471.1_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Intron|CLN6_ENST00000564752.1_Silent_p.V129V|CLN6_ENST00000538696.1_Silent_p.V161V|CLN6_ENST00000418702.2_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	129					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAGAGTCACCCACCAGGTGGA	0.597													ENSG00000128973																																					0													125.0	118.0	120.0					15																	68504112		2200	4298	6498	SO:0001819	synonymous_variant	0			-	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.387G>A	15.37:g.68504112C>T			A8K560|B4DDH6|Q6IAB1|Q96SR0	Silent	SNP	NULL	p.V129	ENST00000249806.5	37	c.387	CCDS10227.1	15																																																																																			-	CLN6	-	NULL		0.597	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN6	HGNC	protein_coding	OTTHUMT00000257066.1	0	0	0	40	40	56	0.00	0.00	C	NM_017882		68504112	-1	5	10	30	36	tier1	no_errors	ENST00000249806	ensembl	human	known	74_37	silent	14.29	21.74	SNP	1.000	T	5	30
PPRC1	23082	genome.wustl.edu	37	10	103898382	103898382	+	Missense_Mutation	SNP	T	T	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr10:103898382T>A	ENST00000278070.2	+	3	388	c.349T>A	c.(349-351)Tta>Ata	p.L117I	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.L117I	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCAGAGCAGGTTATCTCTGGA	0.488													ENSG00000148840																																					0													103.0	96.0	99.0					10																	103898382		2203	4300	6503	SO:0001583	missense	0			-	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.349T>A	10.37:g.103898382T>A	ENSP00000278070:p.Leu117Ile		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L117I	ENST00000278070.2	37	c.349	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667147	0.47677	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.54866	0.55;0.55	4.97	-1.89	0.07689	.	0.220744	0.26750	N	0.022696	T	0.28234	0.0697	N	0.24115	0.695	0.18873	N	0.999989	P;P	0.44816	0.844;0.844	B;B	0.39904	0.313;0.313	T	0.22906	-1.0203	10	0.54805	T	0.06	.	2.2832	0.04120	0.1052:0.3072:0.1746:0.4131	.	117;117	E7EVG6;Q5VV67	.;PPRC1_HUMAN	I	117	ENSP00000278070:L117I;ENSP00000399743:L117I	ENSP00000278070:L117I	L	+	1	2	PPRC1	103888372	0.965000	0.33210	0.996000	0.52242	0.985000	0.73830	0.085000	0.14912	0.016000	0.14998	0.379000	0.24179	TTA	-	PPRC1	-	NULL		0.488	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	0	0	0	51	51	109	0.00	0.00	T	NM_015062		103898382	+1	14	26	12	27	tier1	no_errors	ENST00000278070	ensembl	human	known	74_37	missense	53.85	49.06	SNP	0.354	A	14	12
DNAH7	56171	genome.wustl.edu	37	2	196849355	196849355	+	Splice_Site	SNP	C	C	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:196849355C>A	ENST00000312428.6	-	15	1934		c.e15+1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAAACAATACCTTCATTTCC	0.333													ENSG00000118997																																					0													115.0	106.0	109.0					2																	196849355		1834	4082	5916	SO:0001630	splice_region_variant	0			-	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1833+1G>T	2.37:g.196849355C>A			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP	-	e15+1	ENST00000312428.6	37	c.1833+1	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980160	0.74474	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8919	0.92408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH7	196557600	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.980000	0.70516	2.574000	0.86865	0.655000	0.94253	.	-	DH7	-	-		0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH7	HGNC	protein_coding	OTTHUMT00000335202.3	0	0	0	57	57	117	0.00	0.00	C	NM_018897	Intron	196849355	-1	29	19	39	39	tier1	no_errors	ENST00000312428	ensembl	human	known	74_37	splice_site	42.65	32.76	SNP	1.000	A	29	39
PPP1R26	9858	genome.wustl.edu	37	9	138377398	138377398	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr9:138377398A>G	ENST00000356818.2	+	4	1591	c.1042A>G	c.(1042-1044)Aag>Gag	p.K348E	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.K348E|PPP1R26_ENST00000401470.3_Missense_Mutation_p.K348E|PPP1R26_ENST00000605660.1_Missense_Mutation_p.K348E|PPP1R26_ENST00000605286.1_Missense_Mutation_p.K348E	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	348					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AAGGAGGGGAAAGCGAGTCAT	0.617													ENSG00000196422																																					0													57.0	65.0	62.0					9																	138377398		2203	4300	6503	SO:0001583	missense	0			-	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1042A>G	9.37:g.138377398A>G	ENSP00000349274:p.Lys348Glu		Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	NULL	p.K348E	ENST00000356818.2	37	c.1042	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	A	13.09	2.133753	0.37630	.	.	ENSG00000196422	ENST00000356818	T	0.10288	2.89	5.36	0.0272	0.14153	.	1.347700	0.04636	N	0.404552	T	0.12860	0.0312	L	0.53249	1.67	0.09310	N	1	B	0.16396	0.017	B	0.18871	0.023	T	0.38693	-0.9649	10	0.51188	T	0.08	-7.0677	7.1231	0.25456	0.4137:0.4265:0.1598:0.0	.	348	Q5T8A7	PPR26_HUMAN	E	348	ENSP00000349274:K348E	ENSP00000349274:K348E	K	+	1	0	KIAA0649	137517219	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.084000	0.11268	0.003000	0.14656	-0.274000	0.10170	AAG	-	PPP1R26	-	NULL		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	0	0	0	58	58	39	0.00	0.00	A	NM_014811		138377398	+1	16	14	34	27	tier1	no_errors	ENST00000356818	ensembl	human	known	74_37	missense	32.00	34.15	SNP	0.000	G	16	34
FREM2	341640	genome.wustl.edu	37	13	39454452	39454452	+	Missense_Mutation	SNP	C	C	T	rs114400765	byFrequency	TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr13:39454452C>T	ENST00000280481.7	+	24	9254	c.9038C>T	c.(9037-9039)aCg>aTg	p.T3013M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3013					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TATATACATACGATCTATACA	0.423													ENSG00000150893	C|||	4	0.000798722	0.0	0.0	5008	,	,		19109	0.001		0.001	False		,,,				2504	0.002																0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	88.0	86.0	87.0		9038	5.9	1.0	13	dbSNP_132	87	24,8576	17.3+/-56.4	0,24,4276	yes	missense	FREM2	NM_207361.4	81	0,25,6478	TT,TC,CC		0.2791,0.0227,0.1922	probably-damaging	3013/3170	39454452	25,12981	2203	4300	6503	SO:0001583	missense	0			GMAF=0	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.9038C>T	13.37:g.39454452C>T	ENSP00000280481:p.Thr3013Met		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.T3013M	ENST00000280481.7	37	c.9038	CCDS31960.1	13	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.5	4.748071	0.89663	2.27E-4	0.002791	ENSG00000150893	ENST00000280481	T	0.64618	-0.11	5.89	5.89	0.94794	.	0.105878	0.64402	D	0.000005	T	0.79173	0.4401	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	P	0.56960	0.81	T	0.81464	-0.0921	10	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	3013	Q5SZK8	FREM2_HUMAN	M	3013	ENSP00000280481:T3013M	ENSP00000280481:T3013M	T	+	2	0	FREM2	38352452	1.000000	0.71417	0.951000	0.38953	0.614000	0.37383	7.593000	0.82686	2.797000	0.96272	0.563000	0.77884	ACG	rs114400765	FREM2	-	NULL		0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	0	0	0	63	63	70	0.00	0.00	C	NM_207361		39454452	+1	24	23	8	12	tier1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	75.00	65.71	SNP	1.000	T	24	8
LARP1	23367	genome.wustl.edu	37	5	154181828	154181828	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr5:154181828G>T	ENST00000336314.4	+	11	1771	c.1747G>T	c.(1747-1749)Gac>Tac	p.D583Y		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	660					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGGGGGGGACCGCACAGG	0.547													ENSG00000155506																																					0													78.0	75.0	76.0					5																	154181828		2203	4300	6503	SO:0001583	missense	0			-	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1747G>T	5.37:g.154181828G>T	ENSP00000336721:p.Asp583Tyr		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_R-bd,smart_Lupus_La_R-bd,smart_DM15,pfscan_Lupus_La_R-bd	p.D583Y	ENST00000336314.4	37	c.1747	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.137966	0.94517	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.60548	0.95;0.18;0.28	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.81351	0.4804	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.82486	-0.0433	10	0.87932	D	0	-28.5151	20.8794	0.99867	0.0:0.0:1.0:0.0	.	660;583	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Y	583;660;455	ENSP00000336721:D583Y;ENSP00000428589:D660Y;ENSP00000429904:D455Y	ENSP00000336721:D583Y	D	+	1	0	LARP1	154162021	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	9.787000	0.99055	2.941000	0.99782	0.655000	0.94253	GAC	-	LARP1	-	NULL		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	0	0	0	46	46	50	0.00	0.00	G	NM_033551		154181828	+1	15	27	15	21	tier1	no_errors	ENST00000336314	ensembl	human	known	74_37	missense	48.39	56.25	SNP	1.000	T	15	15
FRK	2444	genome.wustl.edu	37	6	116289823	116289823	+	Silent	SNP	G	G	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr6:116289823G>T	ENST00000606080.1	-	3	992	c.546C>A	c.(544-546)atC>atA	p.I182I	FRK_ENST00000538210.1_Silent_p.I40I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	182	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GTGTTGAAAAGATTCTTCTTC	0.408													ENSG00000111816																																					0													158.0	150.0	153.0					6																	116289823		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.546C>A	6.37:g.116289823G>T			B4DY49|Q13128|Q9NTR5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.I182	ENST00000606080.1	37	c.546	CCDS5103.1	6																																																																																			-	FRK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.408	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	0	0	0	138	138	119	0.00	0.00	G	NM_002031		116289823	-1	36	33	77	80	tier1	no_errors	ENST00000606080	ensembl	human	known	74_37	silent	31.86	28.70	SNP	0.017	T	36	77
PWWP2B	170394	genome.wustl.edu	37	10	134219604	134219604	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr10:134219604C>T	ENST00000305233.5	+	2	1659	c.1600C>T	c.(1600-1602)Ccg>Tcg	p.P534S	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	534	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GTTTGGTTCTCCGACTACGTC	0.483													ENSG00000171813																																					0													181.0	183.0	182.0					10																	134219604		2202	4300	6502	SO:0001583	missense	0			-	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1600C>T	10.37:g.134219604C>T	ENSP00000306324:p.Pro534Ser		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.P534S	ENST00000305233.5	37	c.1600	CCDS7667.2	10	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174427	0.57692	.	.	ENSG00000171813	ENST00000305233	T	0.69561	-0.41	4.28	4.28	0.50868	PWWP (2);	0.000000	0.64402	U	0.000003	T	0.63165	0.2488	N	0.16233	0.39	0.80722	D	1	B	0.26577	0.153	B	0.43103	0.408	T	0.67821	-0.5571	10	0.72032	D	0.01	.	16.2808	0.82678	0.0:1.0:0.0:0.0	.	534	Q6NUJ5	PWP2B_HUMAN	S	534	ENSP00000306324:P534S	ENSP00000306324:P534S	P	+	1	0	PWWP2B	134069594	1.000000	0.71417	0.979000	0.43373	0.714000	0.41099	7.021000	0.76425	2.396000	0.81511	0.563000	0.77884	CCG	-	PWWP2B	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom		0.483	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2B	HGNC	protein_coding	OTTHUMT00000051075.3	0	0	0	96	96	123	0.00	0.00	C	NM_138499		134219604	+1	21	45	17	21	tier1	no_errors	ENST00000305233	ensembl	human	known	74_37	missense	55.26	68.18	SNP	1.000	T	21	17
EPHA5	2044	genome.wustl.edu	37	4	66230840	66230840	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr4:66230840C>A	ENST00000273854.3	-	12	2731	c.2131G>T	c.(2131-2133)Gta>Tta	p.V711L	EPHA5_ENST00000511294.1_Missense_Mutation_p.V712L|EPHA5_ENST00000432638.2_Missense_Mutation_p.V548L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V689L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	711	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTATAGCCTACTTTAAGGGTT	0.388										TSP Lung(17;0.13)			ENSG00000145242																																					0													201.0	199.0	199.0					4																	66230840		2203	4300	6503	SO:0001583	missense	0			-	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2131G>T	4.37:g.66230840C>A	ENSP00000273854:p.Val711Leu		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V711L	ENST00000273854.3	37	c.2131	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020449	0.75275	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000085	T	0.73187	0.3555	N	0.10945	0.07	0.53005	D	0.999963	B;B;B;B	0.24186	0.017;0.013;0.013;0.099	B;B;B;B	0.20955	0.032;0.021;0.014;0.024	T	0.69292	-0.5183	10	0.72032	D	0.01	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	690;712;689;711	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	711;548;689;712	ENSP00000273854:V711L;ENSP00000389208:V548L;ENSP00000346899:V689L;ENSP00000427638:V712L	ENSP00000273854:V711L	V	-	1	0	EPHA5	65913435	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.042000	0.70996	2.834000	0.97654	0.650000	0.86243	GTA	-	EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	0	0	0	112	112	86	0.00	0.00	C	NM_004439		66230840	-1	24	40	29	75	tier1	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	45.28	34.78	SNP	1.000	A	24	29
KYNU	8942	genome.wustl.edu	37	2	143743591	143743591	+	Splice_Site	SNP	G	G	C			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:143743591G>C	ENST00000264170.4	+	10	1160		c.e10+1		KYNU_ENST00000375773.2_Splice_Site|KYNU_ENST00000409512.1_Splice_Site	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTAAACCTGCGTGAGTACCAT	0.328													ENSG00000115919																																					0													70.0	69.0	69.0					2																	143743591		2203	4300	6503	SO:0001630	splice_region_variant	0			-	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.902+1G>C	2.37:g.143743591G>C				Splice_Site	SNP	-	e9+1	ENST00000264170.4	37	c.902+1	CCDS2183.1	2	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676027	0.47886	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3412	0.90305	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KYNU	143460061	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	4.686000	0.61700	2.772000	0.95346	0.650000	0.86243	.	-	KYNU	-	-		0.328	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KYNU	HGNC	protein_coding	OTTHUMT00000254772.1	0	0	0	63	63	103	0.00	0.00	G	NM_001032998	Intron	143743591	+1	24	44	42	82	tier1	no_errors	ENST00000264170	ensembl	human	known	74_37	splice_site	36.36	34.92	SNP	1.000	C	24	42
MYBPH	4608	genome.wustl.edu	37	1	203144809	203144809	+	Silent	SNP	G	G	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:203144809G>A	ENST00000255416.4	-	1	132	c.75C>T	c.(73-75)ccC>ccT	p.P25P		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	25					cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GCTCTGCTGTGGGCACCTTGG	0.632													ENSG00000133055																									NSCLC(32;174 1025 14462 23899 42933)												0													92.0	108.0	102.0					1																	203144809		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.75C>T	1.37:g.203144809G>A			Q16886|Q86YC5	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P25	ENST00000255416.4	37	c.75	CCDS30975.1	1																																																																																			-	MYBPH	-	NULL		0.632	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	HGNC	protein_coding	OTTHUMT00000100264.1	0	0	0	157	157	45	0.00	0.00	G	NM_004997		203144809	-1	31	11	60	27	tier1	no_errors	ENST00000255416	ensembl	human	known	74_37	silent	34.07	28.95	SNP	0.670	A	31	60
CELSR1	9620	genome.wustl.edu	37	22	46776812	46776812	+	Missense_Mutation	SNP	T	T	C	rs554929905		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr22:46776812T>C	ENST00000262738.3	-	22	7128	c.7129A>G	c.(7129-7131)Acg>Gcg	p.T2377A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2377					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TACACCAGCGTGCTCACCATC	0.607													ENSG00000075275	T|||	1	0.000199681	0.0	0.0	5008	,	,		18349	0.0		0.0	False		,,,				2504	0.001																0													39.0	41.0	40.0					22																	46776812		2203	4300	6503	SO:0001583	missense	0			-	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7129A>G	22.37:g.46776812T>C	ENSP00000262738:p.Thr2377Ala		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.T2377A	ENST00000262738.3	37	c.7129	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	T	2.341	-0.351176	0.05173	.	.	ENSG00000075275	ENST00000262738	T	0.06218	3.33	4.28	-6.28	0.02020	Domain of unknown function DUF3497 (1);	0.472911	0.18743	N	0.132383	T	0.03564	0.0102	N	0.17082	0.46	0.41935	D	0.990584	B;B	0.15930	0.015;0.001	B;B	0.19946	0.027;0.009	T	0.35276	-0.9795	10	0.22109	T	0.4	.	14.2111	0.65764	0.0:0.1454:0.0:0.8546	.	698;2377	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	A	2377	ENSP00000262738:T2377A	ENSP00000262738:T2377A	T	-	1	0	CELSR1	45155476	0.018000	0.18449	0.003000	0.11579	0.292000	0.27327	-0.438000	0.06905	-1.014000	0.03379	-1.843000	0.00578	ACG	-	CELSR1	-	pfam_DUF3497		0.607	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	0	0	0	81	81	22	0.00	0.00	T	NM_014246		46776812	-1	15	3	32	13	tier1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	31.91	18.75	SNP	0.003	C	15	32
ZFPM2	23414	genome.wustl.edu	37	8	106815148	106815148	+	Missense_Mutation	SNP	T	T	G			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr8:106815148T>G	ENST00000407775.2	+	8	3088	c.2838T>G	c.(2836-2838)agT>agG	p.S946R	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S814R|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S677R|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S814R|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	946					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGGTCTTTAGTGAAGCTGCTC	0.418													ENSG00000169946																																					0													30.0	29.0	29.0					8																	106815148		1861	4095	5956	SO:0001583	missense	0			-	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2838T>G	8.37:g.106815148T>G	ENSP00000384179:p.Ser946Arg		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S946R	ENST00000407775.2	37	c.2838	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	6.156	0.397040	0.11638	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.22945	1.93;2.42;2.42;3.62	5.76	-8.21	0.01041	.	0.175633	0.64402	D	0.000009	T	0.20740	0.0499	L	0.29908	0.895	0.42825	D	0.994006	D	0.56035	0.974	P	0.49140	0.601	T	0.49123	-0.8972	10	0.54805	T	0.06	.	16.2987	0.82793	0.0:0.4998:0.0:0.5002	.	946	Q8WW38	FOG2_HUMAN	R	946;814;814;677	ENSP00000384179:S946R;ENSP00000430757:S814R;ENSP00000428720:S814R;ENSP00000367733:S677R	ENSP00000367733:S677R	S	+	3	2	ZFPM2	106884324	0.005000	0.15991	0.199000	0.23439	0.315000	0.28087	-1.099000	0.03343	-2.008000	0.00955	-1.069000	0.02264	AGT	-	ZFPM2	-	NULL		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	0	0	0	40	40	86	0.00	0.00	T			106815148	+1	13	42	22	61	tier1	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	37.14	40.38	SNP	0.499	G	13	22
SMG1P4	100507526	genome.wustl.edu	37	16	21896551	21896551	+	RNA	SNP	A	A	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr16:21896551A>T	ENST00000540706.1	-	0	1451																											TAAGGTGAGCACCGATTTGTC	0.428													ENSG00000185710																																					0																																												0			-																													16.37:g.21896551A>T				R	SNP	-	NULL	ENST00000540706.1	37	NULL		16																																																																																			-	RP11-645C24.2	-	-		0.428	RP11-645C24.2-003	KNOWN	basic	processed_transcript	ENSG00000185710	Clone_based_vega_gene	pseudogene	OTTHUMT00000402428.1	0	0	0	172	172	7	0.00	0.00	A			21896551	-1	44	2	65	10	tier1	no_errors	ENST00000380598	ensembl	human	known	74_37	rna	40.37	16.67	SNP	1.000	T	44	65
ZAP70	7535	genome.wustl.edu	37	2	98351033	98351033	+	Missense_Mutation	SNP	G	G	A	rs200679935		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:98351033G>A	ENST00000264972.5	+	9	1155	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.V188M|ZAP70_ENST00000451498.2_Missense_Mutation_p.V7M	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	314	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGACACGAGCGTGTATGAGAG	0.602													ENSG00000115085																																					0													112.0	97.0	102.0					2																	98351033		2203	4300	6503	SO:0001583	missense	0			-	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.940G>A	2.37:g.98351033G>A	ENSP00000264972:p.Val314Met		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.V314M	ENST00000264972.5	37	c.940	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194446	0.38806	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.73258	-0.72;-0.72;-0.73	5.41	4.54	0.55810	Protein kinase-like domain (1);	0.000000	0.45126	D	0.000382	T	0.82019	0.4946	M	0.74258	2.255	0.38736	D	0.953779	D;D	0.89917	1.0;0.999	D;P	0.70716	0.97;0.893	D	0.85306	0.1076	10	0.72032	D	0.01	.	12.2436	0.54558	0.083:0.0:0.917:0.0	.	188;314	P43403-3;P43403	.;ZAP70_HUMAN	M	314;188;7	ENSP00000264972:V314M;ENSP00000411141:V188M;ENSP00000400475:V7M	ENSP00000264972:V314M	V	+	1	0	ZAP70	97717465	1.000000	0.71417	0.763000	0.31416	0.103000	0.19146	7.597000	0.82733	1.449000	0.47699	-0.136000	0.14681	GTG	rs200679935	ZAP70	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.602	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	0	0	0	45	45	33	0.00	0.00	G			98351033	+1	11	11	41	21	tier1	no_errors	ENST00000264972	ensembl	human	known	74_37	missense	20.75	34.38	SNP	0.786	A	11	41
SLC7A14	57709	genome.wustl.edu	37	3	170198390	170198390	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr3:170198390T>C	ENST00000231706.5	-	7	1996	c.1681A>G	c.(1681-1683)Acg>Gcg	p.T561A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	561					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GTGTGCCCCGTCGCTGCTGTG	0.502													ENSG00000013293																																					0													86.0	80.0	82.0					3																	170198390		2203	4300	6503	SO:0001583	missense	0			-	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1681A>G	3.37:g.170198390T>C	ENSP00000231706:p.Thr561Ala		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.T561A	ENST00000231706.5	37	c.1681	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	T	14.36	2.511880	0.44660	.	.	ENSG00000013293	ENST00000231706	D	0.88277	-2.36	5.6	5.6	0.85130	.	0.044070	0.85682	D	0.000000	D	0.87489	0.6190	L	0.54323	1.7	0.80722	D	1	P	0.41978	0.767	B	0.40940	0.344	D	0.87818	0.2636	10	0.48119	T	0.1	.	15.7748	0.78204	0.0:0.0:0.0:1.0	.	561	Q8TBB6	S7A14_HUMAN	A	561	ENSP00000231706:T561A	ENSP00000231706:T561A	T	-	1	0	SLC7A14	171681084	1.000000	0.71417	0.071000	0.20095	0.432000	0.31715	4.763000	0.62257	2.121000	0.65114	0.533000	0.62120	ACG	-	SLC7A14	-	NULL		0.502	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	0	0	0	41	41	44	0.00	0.00	T	NM_020949		170198390	-1	19	20	13	21	tier1	no_errors	ENST00000231706	ensembl	human	known	74_37	missense	59.38	48.78	SNP	0.994	C	19	13
ANGPT4	51378	genome.wustl.edu	37	20	896734	896734	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr20:896734G>T	ENST00000381922.3	-	1	226	c.124C>A	c.(124-126)Cac>Aac	p.H42N	ANGPT4_ENST00000546022.1_Missense_Mutation_p.H42N	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	42					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TAGCTACAGTGGCCGTGCTGG	0.612													ENSG00000101280																									Pancreas(181;481 2077 3259 31286 49856)												0													113.0	107.0	109.0					20																	896734		2203	4300	6503	SO:0001583	missense	0			-	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.124C>A	20.37:g.896734G>T	ENSP00000371347:p.His42Asn		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.H42N	ENST00000381922.3	37	c.124	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536218	0.27475	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13089	2.62;2.62	4.57	4.57	0.56435	.	0.162448	0.28996	N	0.013480	T	0.10208	0.0250	N	0.22421	0.69	0.23473	N	0.99761	B;B	0.27068	0.167;0.167	B;B	0.23275	0.045;0.045	T	0.20207	-1.0282	10	0.59425	D	0.04	.	12.7218	0.57146	0.0:0.0:1.0:0.0	.	42;42	B4E3J9;Q9Y264	.;ANGP4_HUMAN	N	42	ENSP00000371347:H42N;ENSP00000439605:H42N	ENSP00000371347:H42N	H	-	1	0	ANGPT4	844734	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	3.702000	0.54800	2.376000	0.81061	0.305000	0.20034	CAC	-	ANGPT4	-	NULL		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	0	0	0	36	36	56	0.00	0.00	G	NM_015985		896734	-1	7	12	10	37	tier1	no_errors	ENST00000381922	ensembl	human	known	74_37	missense	41.18	24.49	SNP	1.000	T	7	10
OR5M10	390167	genome.wustl.edu	37	11	56344488	56344488	+	Missense_Mutation	SNP	G	G	A	rs535448751		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr11:56344488G>A	ENST00000526812.2	-	1	775	c.710C>T	c.(709-711)gCc>gTc	p.A237V		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CGTAGAAAAGGCTTTGTGCCT	0.458													ENSG00000254834																																					0													60.0	57.0	58.0					11																	56344488		1804	4034	5838	SO:0001583	missense	0			-	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.710C>T	11.37:g.56344488G>A	ENSP00000436004:p.Ala237Val		B9EIL9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A237V	ENST00000526812.2	37	c.710	CCDS53630.1	11	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625199	0.46840	.	.	ENSG00000254834	ENST00000526812	T	0.00342	8.03	4.2	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	M	0.86268	2.805	0.30426	N	0.777665	P	0.37398	0.593	P	0.47941	0.562	T	0.00752	-1.1581	9	0.66056	D	0.02	.	12.4252	0.55542	0.0:0.0:0.8304:0.1695	.	237	Q6IEU7	OR5MA_HUMAN	V	237	ENSP00000436004:A237V	ENSP00000436004:A237V	A	-	2	0	OR5M10	56101064	0.001000	0.12720	0.901000	0.35422	0.201000	0.24016	0.635000	0.24629	1.084000	0.41184	0.632000	0.83419	GCC	-	OR5M10	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M10	HGNC	protein_coding	OTTHUMT00000391609.1	0	0	0	53	53	49	0.00	0.00	G	NM_001004741		56344488	-1	24	11	31	24	tier1	no_errors	ENST00000526812	ensembl	human	known	74_37	missense	42.86	31.43	SNP	1.000	A	24	31
SLC5A1	6523	genome.wustl.edu	37	22	32480510	32480510	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr22:32480510C>T	ENST00000266088.4	+	8	999	c.749C>T	c.(748-750)aCc>aTc	p.T250I	SLC5A1_ENST00000543737.1_Missense_Mutation_p.T123I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	250					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GGCAACACCACCTTTCAGGAA	0.507													ENSG00000100170																																					0													150.0	113.0	126.0					22																	32480510		2203	4300	6503	SO:0001583	missense	0			-		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.749C>T	22.37:g.32480510C>T	ENSP00000266088:p.Thr250Ile		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.T250I	ENST00000266088.4	37	c.749	CCDS13902.1	22	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373092	0.24857	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89343	-2.17;-2.5	5.06	5.06	0.68205	.	0.240139	0.34959	N	0.003552	D	0.92424	0.7595	M	0.63843	1.955	0.09310	N	0.999999	P	0.49862	0.929	P	0.62649	0.905	D	0.86195	0.1615	10	0.45353	T	0.12	.	14.3161	0.66452	0.1488:0.8512:0.0:0.0	.	250	P13866	SC5A1_HUMAN	I	250;123	ENSP00000266088:T250I;ENSP00000444898:T123I	ENSP00000266088:T250I	T	+	2	0	SLC5A1	30810510	0.990000	0.36364	0.020000	0.16555	0.001000	0.01503	3.052000	0.49893	2.501000	0.84356	0.591000	0.81541	ACC	-	SLC5A1	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.507	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A1	HGNC	protein_coding	OTTHUMT00000075656.3	0	0	0	49	49	136	0.00	0.00	C	NM_000343		32480510	+1	14	22	16	80	tier1	no_errors	ENST00000266088	ensembl	human	known	74_37	missense	46.67	21.57	SNP	0.027	T	14	16
SCUBE1	80274	genome.wustl.edu	37	22	43614417	43614417	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr22:43614417G>T	ENST00000360835.4	-	15	1861	c.1735C>A	c.(1735-1737)Cag>Aag	p.Q579K		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	579					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ATGGCGGCCTGCAGGCTCTGT	0.612													ENSG00000159307																																					0													85.0	90.0	88.0					22																	43614417		2203	4300	6503	SO:0001583	missense	0			-		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1735C>A	22.37:g.43614417G>T	ENSP00000354080:p.Gln579Lys		Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.Q579K	ENST00000360835.4	37	c.1735	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297805	0.23650	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.83914	-1.78	4.4	4.4	0.53042	.	0.116020	0.64402	N	0.000010	T	0.71719	0.3373	N	0.20986	0.625	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66460	-0.5918	10	0.10111	T	0.7	.	17.2191	0.86952	0.0:0.0:1.0:0.0	.	579	Q8IWY4	SCUB1_HUMAN	K	579;209	ENSP00000354080:Q579K	ENSP00000354080:Q579K	Q	-	1	0	SCUBE1	41944361	1.000000	0.71417	0.976000	0.42696	0.203000	0.24098	2.442000	0.44873	2.287000	0.76781	0.558000	0.71614	CAG	-	SCUBE1	-	NULL		0.612	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	0	0	0	59	59	49	0.00	0.00	G	NM_173050		43614417	-1	18	12	26	13	tier1	no_errors	ENST00000360835	ensembl	human	known	74_37	missense	40.91	48.00	SNP	1.000	T	18	26
CD300LB	124599	genome.wustl.edu	37	17	72527588	72527588	+	Missense_Mutation	SNP	A	A	C			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr17:72527588A>C	ENST00000392621.1	-	1	17	c.13T>G	c.(13-15)Tgc>Ggc	p.C5G	CD300LB_ENST00000314401.3_Missense_Mutation_p.C5G	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	0					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCTGGCTTGCACCTTCTGCAC	0.488													ENSG00000178789																																					0													79.0	71.0	74.0					17																	72527588		2203	4300	6503	SO:0001583	missense	0			-	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.13T>G	17.37:g.72527588A>C	ENSP00000376397:p.Cys5Gly		Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.C5G	ENST00000392621.1	37	c.13	CCDS11700.1	17	.	.	.	.	.	.	.	.	.	.	A	5.242	0.230130	0.09969	.	.	ENSG00000178789	ENST00000314401	T	0.05447	3.44	3.94	-5.63	0.02474	.	.	.	.	.	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.45818	-0.9235	9	0.09843	T	0.71	.	0.8166	0.01103	0.2502:0.2646:0.2989:0.1863	.	5	B4DQ71	.	G	5	ENSP00000317337:C5G	ENSP00000317337:C5G	C	-	1	0	CD300LB	70039183	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.823000	0.04443	-1.435000	0.01972	0.383000	0.25322	TGC	-	CD300LB	-	NULL		0.488	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300LB	HGNC	protein_coding	OTTHUMT00000145082.2	0	0	0	91	91	79	0.00	0.00	A	NM_174892		72527588	-1	6	17	34	76	tier1	no_errors	ENST00000392621	ensembl	human	known	74_37	missense	15.00	18.09	SNP	0.000	C	6	34
C9orf3	84909	genome.wustl.edu	37	9	97522615	97522615	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr9:97522615A>G	ENST00000375315.2	+	1	550	c.550A>G	c.(550-552)Agg>Ggg	p.R184G	C9orf3_ENST00000277198.2_Missense_Mutation_p.R184G|C9orf3_ENST00000297979.5_Missense_Mutation_p.R184G	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	184					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGAGGAGTTCAGGAATCAGAT	0.493													ENSG00000148120																																					0													107.0	99.0	102.0					9																	97522615		2203	4300	6503	SO:0001583	missense	0			-	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.550A>G	9.37:g.97522615A>G	ENSP00000364464:p.Arg184Gly		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.R184G	ENST00000375315.2	37	c.550	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129156	0.37533	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193;ENST00000424143	T;T;T;T;T	0.25250	2.61;2.59;2.8;1.81;2.37	4.82	3.65	0.41850	.	0.122077	0.53938	D	0.000044	T	0.29158	0.0725	M	0.62723	1.935	0.80722	D	1	P;D;B;D	0.57899	0.944;0.979;0.01;0.981	P;P;B;P	0.51657	0.476;0.631;0.007;0.676	T	0.17440	-1.0369	10	0.44086	T	0.13	-17.8645	0.9969	0.01469	0.496:0.1972:0.1177:0.1891	.	184;184;184;184	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	G	184;184;184;58;7	ENSP00000277198:R184G;ENSP00000297979:R184G;ENSP00000364464:R184G;ENSP00000387736:R58G;ENSP00000402171:R7G	ENSP00000277198:R184G	R	+	1	2	C9orf3	96562436	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.244000	0.43124	0.934000	0.37316	0.460000	0.39030	AGG	-	C9orf3	-	NULL		0.493	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		0	0	0	49	49	117	0.00	0.00	A	NM_032823		97522615	+1	18	49	28	60	tier1	no_errors	ENST00000375315	ensembl	human	known	74_37	missense	39.13	44.95	SNP	0.998	G	18	28
SLC27A6	28965	genome.wustl.edu	37	5	128368839	128368839	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr5:128368839A>G	ENST00000262462.4	+	10	2734	c.1724A>G	c.(1723-1725)cAt>cGt	p.H575R	SLC27A6_ENST00000395266.1_Missense_Mutation_p.H575R|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H575R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	575					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTATTGAAGCATCAGTTGGTG	0.318													ENSG00000113396																																					0													57.0	56.0	56.0					5																	128368839		2203	4294	6497	SO:0001583	missense	0			-	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1724A>G	5.37:g.128368839A>G	ENSP00000262462:p.His575Arg		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.H575R	ENST00000262462.4	37	c.1724	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	A	3.027	-0.200577	0.06219	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.39997	1.05;1.05;1.05	3.85	2.67	0.31697	.	0.325163	0.32918	N	0.005495	T	0.20577	0.0495	N	0.10837	0.055	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17592	-1.0364	9	.	.	.	-2.1025	9.2852	0.37753	0.1819:0.0:0.0:0.8181	.	575	Q9Y2P4	S27A6_HUMAN	R	575	ENSP00000262462:H575R;ENSP00000378684:H575R;ENSP00000421024:H575R	.	H	+	2	0	SLC27A6	128396738	0.929000	0.31497	0.118000	0.21660	0.057000	0.15508	2.715000	0.47210	0.824000	0.34613	0.477000	0.44152	CAT	-	SLC27A6	-	NULL		0.318	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1	0	0	0	69	69	94	0.00	0.00	A	NM_014031		128368839	+1	29	37	113	98	tier1	no_errors	ENST00000262462	ensembl	human	known	74_37	missense	20.42	27.21	SNP	0.615	G	29	113
SACS	26278	genome.wustl.edu	37	13	23910319	23910319	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr13:23910319C>T	ENST00000382292.3	-	9	7969	c.7696G>A	c.(7696-7698)Gat>Aat	p.D2566N	SACS_ENST00000382298.3_Missense_Mutation_p.D2566N|SACS_ENST00000402364.1_Missense_Mutation_p.D1816N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2566					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTCTAGGATCAAACACAAAA	0.403													ENSG00000151835																																					0													107.0	109.0	108.0					13																	23910319		2203	4299	6502	SO:0001583	missense	0			-	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7696G>A	13.37:g.23910319C>T	ENSP00000371729:p.Asp2566Asn		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.D2566N	ENST00000382292.3	37	c.7696	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642228	0.87859	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.97752	-4.52;-4.52;-4.52	5.59	5.59	0.84812	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	M	0.78456	2.415	0.58432	D	0.999996	D	0.56521	0.976	P	0.61658	0.892	D	0.99297	1.0900	10	0.66056	D	0.02	.	19.592	0.95518	0.0:1.0:0.0:0.0	.	2566	Q9NZJ4	SACS_HUMAN	N	2566;1816;2566	ENSP00000371729:D2566N;ENSP00000385844:D1816N;ENSP00000371735:D2566N	ENSP00000371729:D2566N	D	-	1	0	SACS	22808319	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.484000	0.81180	2.629000	0.89072	0.462000	0.41574	GAT	-	SACS	-	superfamily_HATPase_ATP-bd		0.403	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	0	0	0	75	75	70	0.00	0.00	C	NM_014363		23910319	-1	18	38	11	27	tier1	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	62.07	58.46	SNP	1.000	T	18	11
HP	3240	genome.wustl.edu	37	16	72093029	72093029	+	Missense_Mutation	SNP	C	C	A	rs1140430|rs386791984	byFrequency	TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr16:72093029C>A	ENST00000355906.5	+	6	442	c.384C>A	c.(382-384)aaC>aaA	p.N128K	HP_ENST00000565574.1_Intron|HP_ENST00000398131.2_Missense_Mutation_p.N69K|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Missense_Mutation_p.N69K|HP_ENST00000357763.4_Missense_Mutation_p.N164K|HP_ENST00000569639.1_Missense_Mutation_p.N69K|HP_ENST00000562526.1_Missense_Mutation_p.N69K	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	128	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACACCTTAAACAATGAGAAGC	0.473													ENSG00000257017																																					0													120.0	128.0	126.0					16																	72093029		1743	4061	5804	SO:0001583	missense	0			-		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.384C>A	16.37:g.72093029C>A	ENSP00000348170:p.Asn128Lys		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.N128K	ENST00000355906.5	37	c.384	CCDS45524.1	16	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334194	0.24253	.	.	ENSG00000257017	ENST00000355906;ENST00000398131	T;T	0.48522	0.81;0.81	4.24	3.29	0.37713	Complement control module (2);Sushi/SCR/CCP (2);	0.171894	0.40144	N	0.001169	T	0.58148	0.2102	M	0.62723	1.935	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	T	0.59857	-0.7375	10	0.66056	D	0.02	.	7.2724	0.26264	0.0:0.8817:0.0:0.1183	.	128	P00738	HPT_HUMAN	K	128;69	ENSP00000348170:N128K;ENSP00000381199:N69K	ENSP00000348170:N128K	N	+	3	2	HP	70650530	0.118000	0.22208	0.917000	0.36280	0.814000	0.46013	0.359000	0.20233	2.348000	0.79779	0.591000	0.81541	AAC	-	HP	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.473	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HP	HGNC	protein_coding	OTTHUMT00000421680.1	0	0	0	107	107	101	0.00	0.00	C	NM_005143		72093029	+1	22	23	58	68	tier1	no_errors	ENST00000355906	ensembl	human	known	74_37	missense	27.50	25.27	SNP	0.879	A	22	58
ZHX2	22882	genome.wustl.edu	37	8	123965961	123965961	+	Silent	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr8:123965961C>T	ENST00000314393.4	+	3	3046	c.2211C>T	c.(2209-2211)ctC>ctT	p.L737L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	737					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAAAAAGCTCTGCGAAGAGG	0.532													ENSG00000178764																									Esophageal Squamous(94;1056 1388 11767 13799 49639)												0													94.0	99.0	98.0					8																	123965961		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2211C>T	8.37:g.123965961C>T				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L737	ENST00000314393.4	37	c.2211	CCDS6336.1	8																																																																																			-	ZHX2	-	NULL		0.532	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	0	0	0	44	44	119	0.00	0.00	C	NM_014943		123965961	+1	9	47	25	72	tier1	no_errors	ENST00000314393	ensembl	human	known	74_37	silent	26.47	39.50	SNP	0.990	T	9	25
MKNK1	8569	genome.wustl.edu	37	1	47051606	47051606	+	Intron	SNP	G	G	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:47051606G>A	ENST00000371946.4	-	3	198				MKNK1_ENST00000545730.1_Intron|MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000465783.1_Intron|MKNK1_ENST00000428112.2_Intron|MKNK1_ENST00000371945.4_Intron|MKNK1_ENST00000341183.5_Intron|MKNK1_ENST00000525888.1_5'UTR	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1						extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					AAATGGTTAAGACTTTCCTTG	0.403													ENSG00000079277																																					0													98.0	93.0	94.0					1																	47051606		876	1991	2867	SO:0001627	intron_variant	0			-	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.35-2605C>T	1.37:g.47051606G>A			D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Silent	SNP	NULL	p.V25	ENST00000371946.4	37	c.75	CCDS538.1	1																																																																																			-	MKNK1	-	NULL		0.403	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	HGNC	protein_coding	OTTHUMT00000021897.2	0	0	0	70	70	146	0.00	0.00	G	NM_003684		47051606	-1	26	27	56	89	tier1	no_errors	ENST00000474868	ensembl	human	known	74_37	silent	31.71	23.28	SNP	0.611	A	26	56
ANKRD24	170961	genome.wustl.edu	37	19	4216723	4216723	+	Silent	SNP	G	G	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr19:4216723G>A	ENST00000600132.1	+	18	1842	c.1566G>A	c.(1564-1566)gaG>gaA	p.E522E	ANKRD24_ENST00000262970.5_Silent_p.E612E|ANKRD24_ENST00000318934.4_Silent_p.E522E	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	522										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCAGAGAAGAGGGGGCAGCCT	0.622													ENSG00000089847																																					0													18.0	22.0	20.0					19																	4216723		2022	4167	6189	SO:0001819	synonymous_variant	0			-	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1566G>A	19.37:g.4216723G>A			O75268|O95781	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E522	ENST00000600132.1	37	c.1566	CCDS45925.1	19																																																																																			-	ANKRD24	-	NULL		0.622	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	0	0	0	27	27	33	0.00	0.00	G	XM_114000		4216723	+1	9	9	14	14	tier1	no_errors	ENST00000318934	ensembl	human	known	74_37	silent	39.13	39.13	SNP	0.015	A	9	14
KCNB2	9312	genome.wustl.edu	37	8	73480416	73480416	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr8:73480416C>A	ENST00000523207.1	+	2	1035	c.447C>A	c.(445-447)aaC>aaA	p.N149K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	149					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AACAAATGAACGAAGAACTGA	0.458													ENSG00000182674																																					0													123.0	130.0	128.0					8																	73480416		2203	4300	6503	SO:0001583	missense	0			-	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.447C>A	8.37:g.73480416C>A	ENSP00000430846:p.Asn149Lys		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.N149K	ENST00000523207.1	37	c.447	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137143	0.37728	.	.	ENSG00000182674	ENST00000523207	D	0.96885	-4.16	6.07	-6.46	0.01908	BTB/POZ fold (1);	0.713512	0.11975	U	0.511376	D	0.93148	0.7818	L	0.45137	1.4	0.29645	N	0.844401	B	0.23806	0.091	B	0.28784	0.094	T	0.76841	-0.2810	10	0.40728	T	0.16	.	17.6058	0.88037	0.0:0.3242:0.0:0.6758	.	149	Q92953	KCNB2_HUMAN	K	149	ENSP00000430846:N149K	ENSP00000430846:N149K	N	+	3	2	KCNB2	73642970	0.006000	0.16342	0.593000	0.28771	0.905000	0.53344	-1.092000	0.03366	-1.346000	0.02211	-0.794000	0.03295	AAC	-	KCNB2	-	NULL		0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	0	0	0	46	46	90	0.00	0.00	C	NM_004770		73480416	+1	33	26	39	38	tier1	no_errors	ENST00000523207	ensembl	human	known	74_37	missense	45.83	40.62	SNP	0.175	A	33	39
LRRK1	79705	genome.wustl.edu	37	15	101554525	101554525	+	Missense_Mutation	SNP	T	T	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr15:101554525T>A	ENST00000388948.3	+	11	1783	c.1424T>A	c.(1423-1425)cTc>cAc	p.L475H	LRRK1_ENST00000284395.5_Missense_Mutation_p.L472H	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTCAGGCCCTCATGTTCTTG	0.547													ENSG00000154237																																					0													83.0	89.0	87.0					15																	101554525		1930	4126	6056	SO:0001583	missense	0			-	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1424T>A	15.37:g.101554525T>A	ENSP00000373600:p.Leu475His			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.L475H	ENST00000388948.3	37	c.1424	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866259	0.51588	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.81330	-1.48;-1.48	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000011	D	0.93236	0.7845	H	0.98351	4.21	0.48236	D	0.999617	D	0.89917	1.0	D	0.80764	0.994	D	0.94512	0.7719	10	0.44086	T	0.13	.	13.0194	0.58777	0.0:0.0:0.0:1.0	.	475	Q38SD2	LRRK1_HUMAN	H	475;472	ENSP00000373600:L475H;ENSP00000284395:L472H	ENSP00000284395:L472H	L	+	2	0	LRRK1	99372048	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	6.669000	0.74462	1.991000	0.58162	0.450000	0.29827	CTC	-	LRRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.547	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	0	0	0	35	35	72	0.00	0.00	T	NM_024652		101554525	+1	7	12	27	58	tier1	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	20.59	17.14	SNP	1.000	A	7	27
ZCCHC6	79670	genome.wustl.edu	37	9	88937339	88937339	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr9:88937339delC	ENST00000375963.3	-	14	3101	c.2929delG	c.(2929-2931)gacfs	p.D977fs	ZCCHC6_ENST00000277141.6_Frame_Shift_Del_p.D266fs|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375957.1_5'Flank|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.D977fs	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	977					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCAGGACAGTCCTTCTTTAGA	0.403													ENSG00000083223																																					0													125.0	124.0	124.0					9																	88937339		2203	4300	6503	SO:0001589	frameshift_variant	0				AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2929delG	9.37:g.88937339delC	ENSP00000365130:p.Asp977fs		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Frame_Shift_Del	DEL	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.D977fs	ENST00000375963.3	37	c.2929	CCDS35057.1	9																																																																																				ZCCHC6	-	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC		0.403	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	0	0	0	96	96	118	0.00	0.00	C	NM_024617		88937339	-1	30	29	44	72	tier1	no_errors	ENST00000375963	ensembl	human	known	74_37	frame_shift_del	40.54	28.71	DEL	1.000	-	30	44
TP53	7157	genome.wustl.edu	37	17	7578369	7578369	+	Splice_Site	DEL	A	A	-			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr17:7578369delA	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(17)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCAGCTGCTCACCATCGCTAT	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	31	Unknown(17)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	liver(8)|upper_aerodigestive_tract(7)|bone(4)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)											47.0	46.0	46.0					17																	7578369		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;		AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1T>-	17.37:g.7578369delA			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DEL	-	e4+2	ENST00000269305.4	37	c.559+2	CCDS11118.1	17																																																																																				TP53	-	-		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	37	37	61	0.00	0.00	A	NM_000546	Intron	7578369	-1	13	26	13	12	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site_del	50.00	68.42	DEL	1.000	-	13	13
CNTNAP5	129684	genome.wustl.edu	37	2	125504848	125504848	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:125504848delG	ENST00000431078.1	+	14	2481	c.2117delG	c.(2116-2118)aggfs	p.R706fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	706	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCAATGAAAGGCACCCTTAC	0.547													ENSG00000155052																																					0													100.0	100.0	100.0					2																	125504848		2024	4194	6218	SO:0001589	frameshift_variant	0				AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2117delG	2.37:g.125504848delG	ENSP00000399013:p.Arg706fs		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R706fs	ENST00000431078.1	37	c.2117	CCDS46401.1	2																																																																																				CNTP5	-	NULL		0.547	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTP5	HGNC	protein_coding	OTTHUMT00000330864.3	0	0	0	62	62	127	0.00	0.00	G			125504848	+1	22	38	30	66	tier1	no_errors	ENST00000431078	ensembl	human	known	74_37	frame_shift_del	42.31	36.54	DEL	0.007	-	22	30
PHKB	5257	genome.wustl.edu	37	16	47545604	47545606	+	In_Frame_Del	DEL	CAA	CAA	-	rs146558295	byFrequency	TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	CAA	CAA	CAA	-	CAA	CAA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr16:47545604_47545606delCAA	ENST00000323584.5	+	5	458_460	c.434_436delCAA	c.(433-438)ccaaca>cca	p.T147del	PHKB_ENST00000566044.1_In_Frame_Del_p.T140del|PHKB_ENST00000299167.8_In_Frame_Del_p.T147del|PHKB_ENST00000455779.1_In_Frame_Del_p.T140del|PHKB_ENST00000567402.1_3'UTR	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	147					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GATCCACGCCCAACAACATGTCT	0.33													ENSG00000102893																																					0																																										SO:0001651	inframe_deletion	0					CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.434_436delCAA	16.37:g.47545607_47545609delCAA	ENSP00000313504:p.Thr147del		Q8N4T5	In_Frame_Del	DEL	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T147in_frame_del	ENST00000323584.5	37	c.434_436	CCDS10729.1	16																																																																																				PHKB	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.330	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	0	0	0	66	66	101	0.00	0.00	CAA			47545606	+1	13	47	27	56	tier1	no_errors	ENST00000299167	ensembl	human	known	74_37	in_frame_del	32.50	45.63	DEL	1.000:0.977:0.982	-	13	27
FRK	2444	genome.wustl.edu	37	6	116289819	116289819	+	Frame_Shift_Del	DEL	A	A	-	rs142511122		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr6:116289819delA	ENST00000606080.1	-	3	996	c.550delT	c.(550-552)tcafs	p.S184fs	FRK_ENST00000538210.1_Frame_Shift_Del_p.S42fs	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	184	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TTCAGTGTTGAAAAGATTCTT	0.413													ENSG00000111816																																					0													159.0	151.0	154.0					6																	116289819		2203	4300	6503	SO:0001589	frameshift_variant	0				U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.550delT	6.37:g.116289819delA	ENSP00000476145:p.Ser184fs		B4DY49|Q13128|Q9NTR5	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.S184fs	ENST00000606080.1	37	c.550	CCDS5103.1	6																																																																																				FRK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.413	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	0	0	1	143	143	121	0.00	0.82	A	NM_002031		116289819	-1	34	31	77	84	tier1	no_errors	ENST00000606080	ensembl	human	known	74_37	frame_shift_del	30.63	26.96	DEL	0.020	-	34	77
COL22A1	169044	genome.wustl.edu	37	8	139707070	139707070	+	Splice_Site	DEL	G	G	-			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr8:139707070delG	ENST00000303045.6	-	33	3091	c.2645delC	c.(2644-2646)ccg>cg	p.P882fs	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.P882fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	882	Collagen-like 7.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGACTCACCGGTTCCCCAGG	0.602										HNSCC(7;0.00092)			ENSG00000169436																																					0													101.0	96.0	98.0					8																	139707070		2203	4300	6503	SO:0001630	splice_region_variant	0				AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2646+1C>-	8.37:g.139707070delG			B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.P882fs	ENST00000303045.6	37	c.2645	CCDS6376.1	8																																																																																				COL22A1	-	pfam_Collagen		0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	0	0	0	56	56	66	0.00	0.00	G	XM_291257	Frame_Shift_Del	139707070	-1	5	14	22	38	tier1	no_errors	ENST00000303045	ensembl	human	known	74_37	frame_shift_del	18.52	26.92	DEL	0.770	-	5	22
ABCD1	215	genome.wustl.edu	37	X	153008509	153008509	+	Missense_Mutation	SNP	C	C	G	rs4010613		TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chrX:153008509C>G	ENST00000218104.3	+	8	2248	c.1849C>G	c.(1849-1851)Cgc>Ggc	p.R617G	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	617	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> C (in ALD; ALD-type and asymptomatic). {ECO:0000269|PubMed:8040304, ECO:0000269|PubMed:8566952}.|R -> G (in ALD; ADO and AMN-types with cerebral involvement). {ECO:0000269|PubMed:8566952}.|R -> H (in ALD). {ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:8040304}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGCATGGCCCGCATGTTCTA	0.647													ENSG00000101986																																					0			GRCh37	CD051288|CM940041|CM960044	ABCD1	D|M	rs4010613						42.0	28.0	33.0					X																	153008509		2194	4288	6482	SO:0001583	missense	0			-	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1849C>G	X.37:g.153008509C>G	ENSP00000218104:p.Arg617Gly		Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.R617G	ENST00000218104.3	37	c.1849	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296668	0.81025	.	.	ENSG00000101986	ENST00000218104	D	0.99889	-7.55	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.99910	0.9957	M	0.93241	3.395	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.96070	0.9045	10	0.87932	D	0	-32.3224	17.0243	0.86441	0.0:1.0:0.0:0.0	.	617	P33897	ABCD1_HUMAN	G	617	ENSP00000218104:R617G	ENSP00000218104:R617G	R	+	1	0	ABCD1	152661703	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	4.321000	0.59209	2.283000	0.76528	0.429000	0.28392	CGC	-	ABCD1	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	0	0	0	168	168	18	0.00	0.00	C	NM_000033		153008509	+1	48	3	80	7	tier1	no_errors	ENST00000218104	ensembl	human	known	74_37	missense	37.21	30.00	SNP	1.000	G	48	80
HECTD2	143279	genome.wustl.edu	37	10	93245134	93245134	+	Intron	SNP	A	A	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr10:93245134A>T	ENST00000298068.5	+	10	1188				HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_Intron|HECTD2_ENST00000536715.1_Intron|HECTD2_ENST00000446394.1_Intron	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GTTTAAGTTTATATGAAGTTT	0.264													ENSG00000165338																									NSCLC(12;376 469 1699 39910 41417)												0																																										SO:0001627	intron_variant	0			-	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1094+74A>T	10.37:g.93245134A>T			Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	R	SNP	-	NULL	ENST00000298068.5	37	NULL	CCDS7414.1	10																																																																																			-	HECTD2	-	-		0.264	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1	0	0	0	47	47	62	0.00	0.00	A			93245134	+1	19	33	11	1	tier1	no_errors	ENST00000498446	ensembl	human	known	74_37	rna	63.33	97.06	SNP	0.013	T	19	11
URB2	9816	genome.wustl.edu	37	1	229787011	229787011	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr1:229787011G>T	ENST00000258243.2	+	8	4315	c.4179G>T	c.(4177-4179)ttG>ttT	p.L1393F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1393						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTTCTTTCTTGAACTCTTTCA	0.358													ENSG00000135763																																					0													98.0	94.0	95.0					1																	229787011		2203	4300	6503	SO:0001583	missense	0			-	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4179G>T	1.37:g.229787011G>T	ENSP00000258243:p.Leu1393Phe		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.L1393F	ENST00000258243.2	37	c.4179	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660477	0.67586	.	.	ENSG00000135763	ENST00000258243;ENST00000434387	T;T	0.49720	0.77;0.77	5.78	2.67	0.31697	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.117057	0.51477	D	0.000084	T	0.58764	0.2145	M	0.71581	2.175	0.51767	D	0.999935	D	0.76494	0.999	D	0.73380	0.98	T	0.57260	-0.7842	9	.	.	.	-4.8768	3.228	0.06739	0.1416:0.2509:0.476:0.1314	.	1393	Q14146	URB2_HUMAN	F	1393;9	ENSP00000258243:L1393F;ENSP00000395107:L9F	.	L	+	3	2	URB2	227853634	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	0.964000	0.29306	0.748000	0.32831	0.655000	0.94253	TTG	-	URB2	-	pfam_Urb2/Npa2_C		0.358	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	0	0	0	100	100	108	0.00	0.00	G	NM_014777		229787011	+1	7	4	76	116	tier1	no_errors	ENST00000258243	ensembl	human	known	74_37	missense	8.43	3.33	SNP	0.998	T	7	76
OTOP3	347741	genome.wustl.edu	37	17	72943417	72943417	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr17:72943417G>T	ENST00000328801.4	+	6	1467	c.1467G>T	c.(1465-1467)caG>caT	p.Q489H		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	489						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CAGGAAAGCAGGAGGCTGAGC	0.647													ENSG00000182938																																					0													26.0	27.0	27.0					17																	72943417		2203	4300	6503	SO:0001583	missense	0			-	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1467G>T	17.37:g.72943417G>T	ENSP00000328090:p.Gln489His			Missense_Mutation	SNP	pfam_Otopetrin	p.Q489H	ENST00000328801.4	37	c.1467	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	2.263	-0.368802	0.05069	.	.	ENSG00000182938	ENST00000328801	T	0.08634	3.07	4.02	-3.46	0.04767	.	3.373660	0.00859	N	0.001915	T	0.09024	0.0223	L	0.43152	1.355	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.41395	-0.9511	10	0.49607	T	0.09	0.9626	7.9648	0.30091	0.4816:0.1072:0.4112:0.0	.	489	Q7RTS5	OTOP3_HUMAN	H	489	ENSP00000328090:Q489H	ENSP00000328090:Q489H	Q	+	3	2	OTOP3	70455012	0.000000	0.05858	0.008000	0.14137	0.094000	0.18550	-1.124000	0.03260	-0.534000	0.06315	-0.379000	0.06801	CAG	-	OTOP3	-	NULL		0.647	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	0	0	0	62	62	11	0.00	0.00	G	NM_178233		72943417	+1	4	0	29	9	tier1	no_errors	ENST00000328801	ensembl	human	known	74_37	missense	12.12	0.00	SNP	0.000	T	4	29
RGPD2	729857	genome.wustl.edu	37	2	88071786	88071786	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr2:88071786delA	ENST00000398146.3	-	22	5360	c.5138delT	c.(5137-5139)ttgfs	p.L1713fs	RGPD2_ENST00000420840.2_Frame_Shift_Del_p.L1705fs|RGPD2_ENST00000327544.6_Frame_Shift_Del_p.L970fs			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1713	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						ACCTGGCTTCAAGAAAATGAA	0.443													ENSG00000185304																																					0													1.0	1.0	1.0					2																	88071786		540	1381	1921	SO:0001589	frameshift_variant	0					CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.5138delT	2.37:g.88071786delA	ENSP00000381214:p.Leu1713fs		P0C839|Q68DN6|Q6V1X0	Frame_Shift_Del	DEL	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR_1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L1713fs	ENST00000398146.3	37	c.5138	CCDS42710.2	2																																																																																				RGPD2	-	pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP		0.443	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	0	0	0	20	20	0	0.00	0.00	A	NM_001078170		88071786	-1	17	0	10	0	tier1	no_errors	ENST00000398146	ensembl	human	known	74_37	frame_shift_del	62.96	0.00	DEL	1.000	-	17	10
TRIOBP	11078	genome.wustl.edu	37	22	38122497	38122497	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr22:38122497G>A	ENST00000406386.3	+	7	4189	c.3934G>A	c.(3934-3936)Ggg>Agg	p.G1312R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1312					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCGCCTCTTCGGGCAAGAGCG	0.701													ENSG00000100106																																					0													3.0	4.0	4.0					22																	38122497		1681	3576	5257	SO:0001583	missense	0			-	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3934G>A	22.37:g.38122497G>A	ENSP00000384312:p.Gly1312Arg		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G1312R	ENST00000406386.3	37	c.3934	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687622	0.48097	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.70045	-0.45	5.07	4.04	0.47022	.	.	.	.	.	T	0.48484	0.1502	L	0.27053	0.805	0.80722	D	1	P	0.42456	0.78	B	0.29716	0.106	T	0.52230	-0.8603	9	0.49607	T	0.09	.	13.7004	0.62604	0.0:0.1543:0.8457:0.0	.	1312	Q9H2D6	TARA_HUMAN	R	1312	ENSP00000384312:G1312R	ENSP00000384312:G1312R	G	+	1	0	TRIOBP	36452443	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.921000	0.56454	1.118000	0.41863	0.558000	0.71614	GGG	-	TRIOBP	-	NULL		0.701	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	0	0	0	11	11	2	0.00	0.00	G			38122497	+1	7	0	6	0	tier1	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	53.85	0.00	SNP	1.000	A	7	6
ZNF733P	643955	genome.wustl.edu	37	7	62752019	62752019	+	RNA	SNP	G	G	A			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr7:62752019G>A	ENST00000331425.6	-	0	1416					NR_003952.1				zinc finger protein 733, pseudogene																		ATTCTCTTATGTTGCATAAGG	0.408													ENSG00000185037																																					0																																												0			-			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752019G>A				R	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			-	ZNF733P	-	-		0.408	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	0	0	0	54	54	0	0.00	0.00	G			62752019	-1	19	0	52	0	tier1	no_errors	ENST00000331425	ensembl	human	known	74_37	rna	26.76	0.00	SNP	0.954	A	19	52
ESPL1	9700	genome.wustl.edu	37	12	53683327	53683327	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr12:53683327C>T	ENST00000257934.4	+	22	5153	c.5062C>T	c.(5062-5064)Ccc>Tcc	p.P1688S	ESPL1_ENST00000552462.1_Missense_Mutation_p.P1688S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1688					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGGCCACTTCCCCCAGCCTGA	0.617													ENSG00000135476																									Colon(53;1069 1201 2587 5382)												0													46.0	49.0	48.0					12																	53683327		2203	4300	6503	SO:0001583	missense	0			-	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5062C>T	12.37:g.53683327C>T	ENSP00000257934:p.Pro1688Ser			Missense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.P1688S	ENST00000257934.4	37	c.5062	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478983	0.63849	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.17213	2.29;2.29	5.26	5.26	0.73747	.	0.123552	0.53938	D	0.000041	T	0.29389	0.0732	L	0.34521	1.04	0.46437	D	0.999044	D	0.76494	0.999	D	0.66084	0.941	T	0.00915	-1.1516	10	0.72032	D	0.01	.	14.2504	0.66016	0.0:1.0:0.0:0.0	.	1688	Q14674	ESPL1_HUMAN	S	1688;1363;1688	ENSP00000257934:P1688S;ENSP00000449831:P1688S	ENSP00000257934:P1688S	P	+	1	0	ESPL1	51969594	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	3.191000	0.50981	2.735000	0.93741	0.563000	0.77884	CCC	-	ESPL1	-	NULL		0.617	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	0	0	0	68	68	101	0.00	0.00	C	NM_012291		53683327	+1	7	3	23	45	tier1	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	23.33	6.25	SNP	1.000	T	7	23
DCAF7	10238	genome.wustl.edu	37	17	61667286	61667286	+	3'UTR	SNP	G	G	T			TCGA-3B-A9HQ-01A-11D-A387-09	TCGA-3B-A9HQ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5a338e82-a3d9-4fde-a778-541bd843cd68	ec67e62a-ddd3-4fce-babd-48da624ff7d0	g.chr17:61667286G>T	ENST00000310827.4	+	0	1998				DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7						multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GGCATTCTGGGCTTGTAAACA	0.527													ENSG00000136485																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.*752G>T	17.37:g.61667286G>T			B4E039|D3DU14|O15491|Q9DAE4	R	SNP	-	NULL	ENST00000310827.4	37	NULL		17																																																																																			-	DCAF7	-	-		0.527	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding		0	0	0	27	27	107	0.00	0.00	G	NM_005828		61667286	+1	4	2	36	117	tier1	no_errors	ENST00000577702	ensembl	human	known	74_37	rna	10.00	1.68	SNP	0.543	T	4	36
