#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
GRIK3	2899	genome.wustl.edu	37	1	37325619	37325619	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:37325619C>T	ENST00000373091.3	-	6	803		c.e6-1		GRIK3_ENST00000462621.1_5'Flank|GRIK3_ENST00000373093.4_Splice_Site	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGTAGAGATCCTGGATAGAGA	0.577													ENSG00000163873																																					0													81.0	86.0	84.0					1																	37325619		2203	4300	6503	SO:0001630	splice_region_variant	0			-	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.787-1G>A	1.37:g.37325619C>T			A9Z1Z8|B1AMS6|Q13004|Q16136	Splice_Site	SNP	-	e6-1	ENST00000373091.3	37	c.787-1	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941129	0.53079	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7824	0.96422	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK3	37098206	1.000000	0.71417	0.983000	0.44433	0.376000	0.30014	5.761000	0.68801	2.677000	0.91161	0.561000	0.74099	.	-	GRIK3	-	-		0.577	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	0	0	0	31	31	127	0.00	0.00	C	NM_000831	Intron	37325619	-1	8	12	29	91	tier1	no_errors	ENST00000373091	ensembl	human	known	74_37	splice_site	21.62	11.65	SNP	1.000	T	8	29
DNAH8	1769	genome.wustl.edu	37	6	38813373	38813373	+	Silent	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:38813373G>A	ENST00000359357.3	+	34	4472	c.4218G>A	c.(4216-4218)aaG>aaA	p.K1406K	DNAH8_ENST00000441566.1_Silent_p.K1406K|DNAH8_ENST00000449981.2_Silent_p.K1623K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1406					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGCCATTAAGGAGAAGGATA	0.368													ENSG00000124721																																					0													80.0	74.0	76.0					6																	38813373		2203	4300	6503	SO:0001819	synonymous_variant	0			-	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4218G>A	6.37:g.38813373G>A			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1406	ENST00000359357.3	37	c.4218		6																																																																																			-	DH8	-	pfam_Dynein_heavy_dom-2		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DH8	HGNC	protein_coding	OTTHUMT00000043574.1	0	0	0	15	15	89	0.00	0.00	G	NM_001206927		38813373	+1	12	19	21	86	tier1	no_errors	ENST00000359357	ensembl	human	known	74_37	silent	36.36	18.10	SNP	1.000	A	12	21
MS4A14	84689	genome.wustl.edu	37	11	60164142	60164142	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:60164142C>T	ENST00000300187.6	+	1	368	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	MS4A14_ENST00000395005.2_Missense_Mutation_p.H31Y|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Missense_Mutation_p.H31Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	31						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTACAGACCTCATAGCTCTCT	0.453													ENSG00000166928																																					0													105.0	87.0	93.0					11																	60164142		2203	4300	6503	SO:0001583	missense	0			-	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.91C>T	11.37:g.60164142C>T	ENSP00000300187:p.His31Tyr		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.H31Y	ENST00000300187.6	37	c.91	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170273	0.78452	.	.	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.32272	2.73;1.46;1.5;3.07	4.85	4.85	0.62838	.	0.864972	0.10365	N	0.683538	T	0.45337	0.1337	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.26608	-1.0098	10	0.87932	D	0	-10.4613	13.3508	0.60601	0.0:1.0:0.0:0.0	.	31;31	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	31	ENSP00000300187:H31Y;ENSP00000378453:H31Y;ENSP00000435764:H31Y;ENSP00000433761:H31Y	ENSP00000300187:H31Y	H	+	1	0	MS4A14	59920718	0.989000	0.36119	0.936000	0.37596	0.859000	0.49053	3.171000	0.50824	2.515000	0.84797	0.655000	0.94253	CAT	-	MS4A14	-	NULL		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	0	0	1	47	47	124	0.00	0.80	C			60164142	+1	11	19	66	130	tier1	no_errors	ENST00000300187	ensembl	human	known	74_37	missense	14.29	12.75	SNP	0.977	T	11	66
DHX16	8449	genome.wustl.edu	37	6	30632764	30632764	+	Silent	SNP	C	C	A	rs544581944	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:30632764C>A	ENST00000376442.3	-	7	1326	c.1131G>T	c.(1129-1131)ccG>ccT	p.P377P		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	377					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GTGGAGCTGACGGCTCCTAAG	0.587													ENSG00000204560																																					0													44.0	46.0	45.0					6																	30632764		1511	2709	4220	SO:0001819	synonymous_variant	0			-	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1131G>T	6.37:g.30632764C>A			O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P377	ENST00000376442.3	37	c.1131	CCDS4685.1	6																																																																																			-	DHX16	-	NULL		0.587	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	HGNC	protein_coding	OTTHUMT00000076076.2	0	0	0	43	43	119	0.00	0.00	C	NM_003587		30632764	-1	5	12	44	81	tier1	no_errors	ENST00000376442	ensembl	human	known	74_37	silent	10.00	12.90	SNP	0.000	A	5	44
LRRC16B	90668	genome.wustl.edu	37	14	24538169	24538169	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr14:24538169G>A	ENST00000342740.5	+	38	4130	c.3976G>A	c.(3976-3978)Gtc>Atc	p.V1326I	CPNE6_ENST00000537691.1_5'Flank|LRRC16B_ENST00000334420.7_Missense_Mutation_p.V379I|CPNE6_ENST00000397016.2_5'Flank|CPNE6_ENST00000216775.2_5'Flank	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1326						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGAGCCCGAAGTCCAAGGTCT	0.607													ENSG00000186648																																					0													10.0	8.0	9.0					14																	24538169		2162	4225	6387	SO:0001583	missense	0			-	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3976G>A	14.37:g.24538169G>A	ENSP00000340467:p.Val1326Ile		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.V1326I	ENST00000342740.5	37	c.3976	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	3.888	-0.024651	0.07589	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.59502	0.26;0.26	5.04	2.19	0.27852	.	0.566297	0.14734	N	0.301587	T	0.25827	0.0629	N	0.03608	-0.345	0.19945	N	0.999946	B;B	0.25486	0.0;0.127	B;B	0.25291	0.001;0.059	T	0.29941	-0.9995	10	0.02654	T	1	-20.2507	7.143	0.25566	0.2842:0.0:0.7158:0.0	.	379;1326	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	I	1326;379	ENSP00000340467:V1326I;ENSP00000334701:V379I	ENSP00000334701:V379I	V	+	1	0	LRRC16B	23608009	0.995000	0.38212	0.775000	0.31657	0.949000	0.60115	1.261000	0.32980	0.721000	0.32231	0.561000	0.74099	GTC	-	LRRC16B	-	NULL		0.607	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	0	0	0	15	15	60	0.00	0.00	G	NM_138360		24538169	+1	4	7	7	34	tier1	no_errors	ENST00000342740	ensembl	human	known	74_37	missense	36.36	17.07	SNP	0.939	A	4	7
SIPA1L2	57568	genome.wustl.edu	37	1	232561478	232561478	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:232561478C>T	ENST00000366630.1	-	17	4845	c.4487G>A	c.(4486-4488)aGg>aAg	p.R1496K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1496K|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R570K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1496					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGACCCCCTCCTGTTGCTGCA	0.577													ENSG00000116991																																					0													67.0	80.0	76.0					1																	232561478		2191	4287	6478	SO:0001583	missense	0			-	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4487G>A	1.37:g.232561478C>T	ENSP00000355589:p.Arg1496Lys		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R1496K	ENST00000366630.1	37	c.4487	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.673327	0.96754	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.33216	1.42;1.42;1.42	5.66	5.66	0.87406	.	0.072630	0.53938	D	0.000048	T	0.53126	0.1777	L	0.56280	1.765	0.53688	D	0.999977	D;D	0.67145	0.992;0.996	P;D	0.76071	0.866;0.987	T	0.37337	-0.9710	10	0.39692	T	0.17	-33.7588	20.1225	0.97967	0.0:1.0:0.0:0.0	.	1496;570	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	K	1496;1496;570	ENSP00000355589:R1496K;ENSP00000262861:R1496K;ENSP00000309102:R570K	ENSP00000262861:R1496K	R	-	2	0	SIPA1L2	230628101	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.748000	0.68697	2.831000	0.97527	0.650000	0.86243	AGG	-	SIPA1L2	-	pfam_DUF3401		0.577	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	0	0	0	25	25	71	0.00	0.00	C	XM_045839		232561478	-1	11	17	36	54	tier1	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	23.40	23.94	SNP	1.000	T	11	36
CARS	833	genome.wustl.edu	37	11	3038427	3038427	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:3038427T>C	ENST00000397111.5	-	15	1822	c.1577A>G	c.(1576-1578)aAc>aGc	p.N526S	CARS_ENST00000380525.4_Missense_Mutation_p.N609S|CARS_ENST00000397114.3_Missense_Mutation_p.N516S|CARS_ENST00000401769.3_Missense_Mutation_p.N539S|CARS_ENST00000278224.9_Missense_Mutation_p.N526S			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	526					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CATATAGAGGTTGCACTGACT	0.537			T	ALK	ALCL								ENSG00000110619																									Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													107.0	85.0	92.0					11																	3038427		2202	4298	6500	SO:0001583	missense	0			-	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1577A>G	11.37:g.3038427T>C	ENSP00000380300:p.Asn526Ser		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tR/MSH_ligase,pfam_Methionyl/Leucyl_tR_Synth,superfamily_tRsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tR/MSH_ligase,tigrfam_Cys-tR-ligase	p.N609S	ENST00000397111.5	37	c.1826	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390514	0.82902	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	4.25	4.25	0.50352	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.78947	0.4364	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.989;1.0;1.0;0.989;1.0	P;P;D;D;P;D	0.97110	0.881;0.893;0.999;1.0;0.844;0.987	D	0.84909	0.0847	10	0.66056	D	0.02	-53.4236	13.5163	0.61543	0.0:0.0:0.0:1.0	.	539;609;526;526;609;516	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	S	609;526;526;516;539	ENSP00000369897:N609S;ENSP00000380300:N526S;ENSP00000278224:N526S;ENSP00000380303:N516S;ENSP00000384069:N539S	ENSP00000278224:N526S	N	-	2	0	CARS	2995003	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.416000	0.80143	1.783000	0.52377	0.374000	0.22700	AAC	-	CARS	-	superfamily_tRsynth_1a_anticodon-bd,tigrfam_Cys-tR-ligase		0.537	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	0	0	0	40	40	121	0.00	0.00	T	NM_001751		3038427	-1	8	16	41	74	tier1	no_errors	ENST00000380525	ensembl	human	known	74_37	missense	16.33	17.78	SNP	1.000	C	8	41
LRP1B	53353	genome.wustl.edu	37	2	142567933	142567933	+	Silent	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:142567933G>A	ENST00000389484.3	-	2	1091	c.120C>T	c.(118-120)caC>caT	p.H40H	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	40	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACGTGATCGTGGCAAAGAA	0.443										TSP Lung(27;0.18)			ENSG00000168702																									Colon(99;50 2074 2507 20106)												0													61.0	59.0	60.0					2																	142567933		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.120C>T	2.37:g.142567933G>A			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H40	ENST00000389484.3	37	c.120	CCDS2182.1	2																																																																																			-	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	0	0	0	29	29	80	0.00	0.00	G	NM_018557		142567933	-1	8	15	16	40	tier1	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	33.33	27.27	SNP	1.000	A	8	16
DENND2C	163259	genome.wustl.edu	37	1	115168618	115168618	+	5'UTR	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:115168618G>A	ENST00000393274.1	-	0	613				DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_5'UTR|DENND2C_ENST00000393277.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C						positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCAACTGGGTGAATGACAA	0.358													ENSG00000175984																																					0													59.0	58.0	58.0					1																	115168618		2203	4297	6500	SO:0001623	5_prime_UTR_variant	0			-		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.-13C>T	1.37:g.115168618G>A			B1AL26|Q5TCX6|Q6P3R3	R	SNP	-	NULL	ENST00000393274.1	37	NULL	CCDS58018.1	1																																																																																			-	DENND2C	-	-		0.358	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	0	0	0	9	9	164	0.00	0.00	G	NM_198459		115168618	-1	4	19	7	92	tier1	no_errors	ENST00000493549	ensembl	human	known	74_37	rna	36.36	17.12	SNP	1.000	A	4	7
ITGB6	3694	genome.wustl.edu	37	2	160980365	160980365	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:160980365G>C	ENST00000283249.2	-	12	2155	c.1918C>G	c.(1918-1920)Caa>Gaa	p.Q640E	ITGB6_ENST00000428609.2_Missense_Mutation_p.Q598E|ITGB6_ENST00000409872.1_Missense_Mutation_p.Q640E|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	640					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTCGGGCTTGGCCAGCTGCT	0.448													ENSG00000115221																																					0													159.0	138.0	145.0					2																	160980365		2203	4300	6503	SO:0001583	missense	0			-		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1918C>G	2.37:g.160980365G>C	ENSP00000283249:p.Gln640Glu		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.Q640E	ENST00000283249.2	37	c.1918	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	G	0.719	-0.784307	0.02907	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	T;T;T	0.81330	-1.48;-1.48;-1.48	5.74	4.85	0.62838	Integrin beta subunit, tail (2);	0.342160	0.31709	N	0.007190	T	0.66066	0.2752	N	0.21448	0.665	0.28780	N	0.899875	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48636	-0.9018	10	0.05525	T	0.97	.	14.9376	0.70970	0.0:0.0:0.7267:0.2733	.	598;640	E9PEE8;P18564	.;ITB6_HUMAN	E	640;598;640	ENSP00000283249:Q640E;ENSP00000408024:Q598E;ENSP00000386367:Q640E	ENSP00000283249:Q640E	Q	-	1	0	ITGB6	160688611	1.000000	0.71417	0.978000	0.43139	0.495000	0.33615	3.220000	0.51207	1.542000	0.49330	0.561000	0.74099	CAA	-	ITGB6	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail		0.448	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	0	0	1	30	30	105	0.00	0.94	G	NM_000888		160980365	-1	14	7	27	61	tier1	no_errors	ENST00000283249	ensembl	human	known	74_37	missense	34.15	10.29	SNP	0.991	C	14	27
TTN	7273	genome.wustl.edu	37	2	179584151	179584151	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:179584151C>A	ENST00000591111.1	-	81	23239	c.23015G>T	c.(23014-23016)cGc>cTc	p.R7672L	TTN_ENST00000589042.1_Missense_Mutation_p.R7989L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6745L			Q8WZ42	TITIN_HUMAN	titin	13216	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R6745H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGCTTGCGGATGAAGGA	0.512													ENSG00000155657																																					1	Substitution - Missense(1)	ovary(1)											79.0	81.0	80.0					2																	179584151		1909	4124	6033	SO:0001583	missense	0			-	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23015G>T	2.37:g.179584151C>A	ENSP00000465570:p.Arg7672Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R6745L	ENST00000591111.1	37	c.20234		2	.	.	.	.	.	.	.	.	.	.	C	12.59	1.985090	0.35036	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.76292	0.3967	L	0.42744	1.35	0.80722	D	1	D	0.63046	0.992	P	0.60236	0.871	T	0.76429	-0.2962	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	7672	Q8WZ42	TITIN_HUMAN	L	6745	ENSP00000343764:R6745L	ENSP00000343764:R6745L	R	-	2	0	TTN	179292396	0.947000	0.32204	1.000000	0.80357	0.989000	0.77384	1.414000	0.34736	2.894000	0.99253	0.655000	0.94253	CGC	-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom		0.512	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	37	37	149	0.00	0.00	C	NM_133378		179584151	-1	9	30	40	79	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	18.37	27.03	SNP	0.989	A	9	40
MTTP	4547	genome.wustl.edu	37	4	100530103	100530103	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:100530103C>A	ENST00000265517.5	+	12	1941	c.1738C>A	c.(1738-1740)Caa>Aaa	p.Q580K	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.Q580K|MTTP_ENST00000511045.1_Missense_Mutation_p.Q607K			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	580	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CGCCATTGTTCAAGACATCCT	0.403													ENSG00000138823																																					0													134.0	129.0	131.0					4																	100530103		2203	4300	6503	SO:0001583	missense	0			-		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1738C>A	4.37:g.100530103C>A	ENSP00000265517:p.Gln580Lys		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q580K	ENST00000265517.5	37	c.1738	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189049	0.38707	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.66995	-0.24;-0.24;-0.24	5.0	4.15	0.48705	Lipid transport protein, N-terminal (2);Vitellinogen, superhelical (2);	0.165052	0.56097	D	0.000039	T	0.60340	0.2261	L	0.58669	1.825	0.52501	D	0.999958	B;B	0.23735	0.025;0.09	B;B	0.28385	0.031;0.089	T	0.56450	-0.7977	10	0.02654	T	1	-28.3572	15.6762	0.77326	0.0:0.8624:0.1376:0.0	.	607;580	E9PBP6;P55157	.;MTP_HUMAN	K	607;580;580	ENSP00000427679:Q607K;ENSP00000400821:Q580K;ENSP00000265517:Q580K	ENSP00000265517:Q580K	Q	+	1	0	MTTP	100749126	1.000000	0.71417	0.781000	0.31783	0.846000	0.48090	4.402000	0.59722	1.210000	0.43336	-0.176000	0.13171	CAA	-	MTTP	-	superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.403	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	0	0	0	9	9	105	0.00	0.00	C			100530103	+1	5	21	7	60	tier1	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	41.67	25.93	SNP	1.000	A	5	7
NTN4	59277	genome.wustl.edu	37	12	96059706	96059706	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:96059706C>G	ENST00000343702.4	-	9	2078	c.1630G>C	c.(1630-1632)Gtc>Ctc	p.V544L	NTN4_ENST00000344911.4_Missense_Mutation_p.V507L|NTN4_ENST00000538383.1_Missense_Mutation_p.V507L|NTN4_ENST00000553059.1_Missense_Mutation_p.V521L|PGAM1P5_ENST00000552554.1_RNA	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	544	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTCACATTGACCTCAACATGA	0.338													ENSG00000074527																																					0													106.0	98.0	101.0					12																	96059706		2203	4300	6503	SO:0001583	missense	0			-	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1630G>C	12.37:g.96059706C>G	ENSP00000340998:p.Val544Leu		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.V544L	ENST00000343702.4	37	c.1630	CCDS9054.1	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530119	0.85706	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.91	5.91	0.95273	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.55213	1.73	0.54753	D	0.999981	D;D	0.89917	1.0;0.987	D;P	0.87578	0.998;0.889	T	0.02705	-1.1121	10	0.33141	T	0.24	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	521;544	Q9HB63-2;Q9HB63	.;NET4_HUMAN	L	544;507;507;521	ENSP00000340998:V544L;ENSP00000339436:V507L;ENSP00000444432:V507L;ENSP00000447292:V521L	ENSP00000340998:V544L	V	-	1	0	NTN4	94583837	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.070000	0.76763	2.802000	0.96397	0.655000	0.94253	GTC	-	NTN4	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.338	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	0	0	0	26	26	112	0.00	0.00	C	NM_021229		96059706	-1	21	35	26	69	tier1	no_errors	ENST00000343702	ensembl	human	known	74_37	missense	44.68	33.65	SNP	1.000	G	21	26
FRK	2444	genome.wustl.edu	37	6	116288797	116288797	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:116288797C>T	ENST00000606080.1	-	4	1162	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	FRK_ENST00000538210.1_Missense_Mutation_p.R97Q	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	AGATCCCAATCGCTTCAGAAG	0.448													ENSG00000111816																																					0													165.0	152.0	156.0					6																	116288797		2203	4300	6503	SO:0001583	missense	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.716G>A	6.37:g.116288797C>T	ENSP00000476145:p.Arg239Gln		B4DY49|Q13128|Q9NTR5	Missense_Mutation	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.R239Q	ENST00000606080.1	37	c.716	CCDS5103.1	6	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740858	0.49151	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.26067	1.76;1.76	5.36	3.46	0.39613	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.227351	0.28301	N	0.015843	T	0.06416	0.0165	L	0.33624	1.015	0.33377	D	0.574293	B	0.28439	0.212	B	0.18561	0.022	T	0.19224	-1.0312	10	0.49607	T	0.09	.	2.3622	0.04310	0.2672:0.4916:0.0:0.2412	.	239	P42685	FRK_HUMAN	Q	239;97	ENSP00000357615:R239Q;ENSP00000443075:R97Q	ENSP00000357615:R239Q	R	-	2	0	FRK	116395490	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.751000	0.47508	2.657000	0.90304	0.650000	0.86243	CGA	-	FRK	-	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,pfscan_Prot_kinase_dom		0.448	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	0	0	0	46	46	141	0.00	0.00	C	NM_002031		116288797	-1	9	37	52	113	tier1	no_errors	ENST00000606080	ensembl	human	known	74_37	missense	14.75	24.67	SNP	0.997	T	9	52
LILRB1	10859	genome.wustl.edu	37	19	55146164	55146164	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr19:55146164T>G	ENST00000396331.1	+	11	1790	c.1433T>G	c.(1432-1434)cTc>cGc	p.L478R	LILRB1_ENST00000396327.3_Missense_Mutation_p.L479R|LILRB1_ENST00000396332.4_Missense_Mutation_p.L478R|LILRB1_ENST00000434867.2_Missense_Mutation_p.L478R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.L478R|LILRB1_ENST00000396315.1_Missense_Mutation_p.L479R|LILRB1_ENST00000396317.1_Missense_Mutation_p.L462R|LILRB1_ENST00000324602.7_Missense_Mutation_p.L479R|LILRB1_ENST00000427581.2_Missense_Mutation_p.L528R|LILRB1_ENST00000418536.2_Missense_Mutation_p.L462R|LILRB1_ENST00000448689.1_Missense_Mutation_p.L478R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	478					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ctcctcctcctcctcttcctc	0.612										HNSCC(37;0.09)			ENSG00000104972																																					0													133.0	113.0	120.0					19																	55146164		2203	4300	6503	SO:0001583	missense	0			-	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1433T>G	19.37:g.55146164T>G	ENSP00000379622:p.Leu478Arg		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L479R	ENST00000396331.1	37	c.1436	CCDS42617.1	19	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582818	0.28268	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00580	6.53;6.74;6.43;6.53;6.56;6.56;6.53;6.53;6.66;6.74;6.56	0.822	0.822	0.18806	.	3.215830	0.01930	N	0.041152	T	0.02342	0.0072	M	0.82323	2.585	0.09310	N	1	B;B;P;B;D;D	0.60160	0.102;0.049;0.923;0.022;0.973;0.987	B;B;P;B;P;P	0.59825	0.052;0.027;0.504;0.032;0.864;0.794	T	0.38023	-0.9680	10	0.87932	D	0	.	3.8571	0.08981	0.0:0.0:0.0:1.0	.	462;478;479;478;479;478	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	R	478;462;478;478;479;479;478;478;528;462;479	ENSP00000379614:L478R;ENSP00000391514:L462R;ENSP00000409968:L478R;ENSP00000379622:L478R;ENSP00000379618:L479R;ENSP00000315997:L479R;ENSP00000405243:L478R;ENSP00000379623:L478R;ENSP00000395004:L528R;ENSP00000379610:L462R;ENSP00000379608:L479R	ENSP00000315997:L479R	L	+	2	0	LILRB1	59837976	0.002000	0.14202	0.010000	0.14722	0.039000	0.13416	-0.091000	0.11146	0.598000	0.29829	0.155000	0.16302	CTC	-	LILRB1	-	NULL		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	HGNC	protein_coding	OTTHUMT00000140796.4	0	0	0	36	36	171	0.00	0.00	T			55146164	+1	5	16	47	87	tier1	no_errors	ENST00000324602	ensembl	human	known	74_37	missense	9.62	15.53	SNP	0.012	G	5	47
HIVEP3	59269	genome.wustl.edu	37	1	42046088	42046088	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:42046088T>A	ENST00000372583.1	-	4	5266	c.4381A>T	c.(4381-4383)Aaa>Taa	p.K1461*	HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.K1461*|HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.K1461*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.K1461*|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1461					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGCTCAAGTTTTTCATCTGCC	0.522													ENSG00000127124																																					0													105.0	107.0	107.0					1																	42046088		2203	4300	6503	SO:0001587	stop_gained	0			-	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4381A>T	1.37:g.42046088T>A	ENSP00000361664:p.Lys1461*		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K1461*	ENST00000372583.1	37	c.4381	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	T	49	16.018718	0.99852	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	5.37	5.37	0.77165	.	0.226096	0.31102	N	0.008254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0063	11.2316	0.48916	0.0:0.0:0.1531:0.8469	.	.	.	.	X	1461	.	ENSP00000247584:K1461X	K	-	1	0	HIVEP3	41818675	0.760000	0.28428	0.997000	0.53966	0.997000	0.91878	2.900000	0.48687	2.254000	0.74563	0.533000	0.62120	AAA	-	HIVEP3	-	NULL		0.522	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	0	0	0	52	52	114	0.00	0.00	T	NM_024503		42046088	-1	15	19	67	79	tier1	no_errors	ENST00000247584	ensembl	human	known	74_37	nonsense	18.29	19.39	SNP	0.900	A	15	67
DNAH17	8632	genome.wustl.edu	37	17	76506478	76506478	+	Silent	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr17:76506478C>A	ENST00000585328.1	-	27	4339	c.4215G>T	c.(4213-4215)tcG>tcT	p.S1405S	DNAH17_ENST00000389840.5_Silent_p.S1404S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1404	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTCCATGCCCGACTCCTTCA	0.582													ENSG00000187775																																					0													174.0	176.0	176.0					17																	76506478		2111	4232	6343	SO:0001819	synonymous_variant	0			-	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4215G>T	17.37:g.76506478C>A			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.S1404	ENST00000585328.1	37	c.4212		17																																																																																			-	DH17	-	pfam_Dynein_heavy_dom-2		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DH17	HGNC	protein_coding	OTTHUMT00000318962.2	0	0	0	27	27	95	0.00	0.00	C	NM_173628		76506478	-1	10	12	19	92	tier1	no_errors	ENST00000389840	ensembl	human	known	74_37	silent	34.48	11.54	SNP	0.013	A	10	19
TUBB2B	347733	genome.wustl.edu	37	6	3225063	3225063	+	Silent	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:3225063G>T	ENST00000259818.7	-	4	1451	c.1260C>A	c.(1258-1260)tcC>tcA	p.S420S	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	420					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCTGGTACTCGGACACCAGGT	0.642													ENSG00000137285																																					0													47.0	34.0	39.0					6																	3225063		2202	4282	6484	SO:0001819	synonymous_variant	0			-	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.1260C>A	6.37:g.3225063G>T			A8K068	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.S420	ENST00000259818.7	37	c.1260	CCDS4485.1	6																																																																																			-	TUBB2B	-	superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin		0.642	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2B	HGNC	protein_coding	OTTHUMT00000039680.2	0	0	0	26	26	16	0.00	0.00	G	NM_178012		3225063	-1	9	5	36	24	tier1	no_errors	ENST00000259818	ensembl	human	known	74_37	silent	20.00	17.24	SNP	0.493	T	9	36
C7orf31	136895	genome.wustl.edu	37	7	25194754	25194754	+	Silent	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:25194754G>A	ENST00000409280.1	-	6	779	c.471C>T	c.(469-471)ggC>ggT	p.G157G	C7orf31_ENST00000283905.3_Silent_p.G157G			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	157										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGAACATGGCGCCGCGACAGA	0.502													ENSG00000153790																																					0													125.0	130.0	128.0					7																	25194754		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.471C>T	7.37:g.25194754G>A			A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP	NULL	p.G157	ENST00000409280.1	37	c.471	CCDS5394.1	7																																																																																			-	C7orf31	-	NULL		0.502	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	HGNC	protein_coding	OTTHUMT00000326929.1	0	0	0	39	39	88	0.00	0.00	G	NM_138811		25194754	-1	16	20	38	82	tier1	no_errors	ENST00000283905	ensembl	human	known	74_37	silent	29.63	19.61	SNP	0.006	A	16	38
MBD1	4152	genome.wustl.edu	37	18	47796413	47796413	+	3'UTR	SNP	C	C	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr18:47796413C>G	ENST00000591416.1	-	0	3707				MBD1_ENST00000349085.2_Intron|MBD1_ENST00000269468.5_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.D541H|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000585672.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TCATATAGATCATTGTCAAAA	0.398													ENSG00000141644																																					0													123.0	121.0	121.0					18																	47796413		876	1991	2867	SO:0001624	3_prime_UTR_variant	0			-	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.*1458G>C	18.37:g.47796413C>G			A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_D-bd,superfamily_D-bd_dom,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd,pfscan_Znf_CXXC	p.D541H	ENST00000591416.1	37	c.1621	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	C	2.550	-0.304231	0.05495	.	.	ENSG00000141644	ENST00000339998	D	0.95853	-3.83	3.94	0.202	0.15190	.	.	.	.	.	D	0.90480	0.7018	.	.	.	0.09310	N	0.999993	P	0.39624	0.681	B	0.34242	0.178	T	0.82810	-0.0273	8	0.72032	D	0.01	.	6.177	0.20449	0.0:0.5536:0.0:0.4464	.	541	Q9UIS9-6	.	H	541	ENSP00000339546:D541H	ENSP00000339546:D541H	D	-	1	0	MBD1	46050411	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	-0.034000	0.12225	0.010000	0.14839	0.655000	0.94253	GAT	-	MBD1	-	NULL		0.398	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	0	0	0	27	27	100	0.00	0.00	C	NM_015846		47796413	-1	8	8	27	65	tier1	no_errors	ENST00000339998	ensembl	human	known	74_37	missense	22.86	10.96	SNP	0.000	G	8	27
FAM135B	51059	genome.wustl.edu	37	8	139323106	139323106	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr8:139323106A>C	ENST00000395297.1	-	3	305	c.135T>G	c.(133-135)agT>agG	p.S45R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	45										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGATGGAGGCACTCAGTCTGT	0.552										HNSCC(54;0.14)			ENSG00000147724																																					0													84.0	81.0	82.0					8																	139323106		2003	4168	6171	SO:0001583	missense	0			-	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.135T>G	8.37:g.139323106A>C	ENSP00000378710:p.Ser45Arg		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S45R	ENST00000395297.1	37	c.135	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250388	0.59212	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.15139	2.45	5.1	-3.61	0.04556	.	1.242550	0.06046	U	0.655675	T	0.28300	0.0699	L	0.36672	1.1	0.27108	N	0.962456	D	0.71674	0.998	D	0.80764	0.994	T	0.41858	-0.9485	10	0.37606	T	0.19	-10.0084	10.7916	0.46436	0.4818:0.0:0.5182:0.0	.	45	Q49AJ0	F135B_HUMAN	R	45	ENSP00000378710:S45R	ENSP00000160713:S45R	S	-	3	2	FAM135B	139392288	0.942000	0.31987	0.976000	0.42696	0.993000	0.82548	-0.220000	0.09215	-0.632000	0.05553	0.533000	0.62120	AGT	-	FAM135B	-	NULL		0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	0	0	0	22	22	74	0.00	0.00	A	NM_015912		139323106	-1	4	12	22	62	tier1	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	15.38	16.00	SNP	0.982	C	4	22
FUNDC2P2	388965	genome.wustl.edu	37	2	84518513	84518513	+	RNA	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:84518513C>A	ENST00000331369.5	+	0	707									FUN14 domain containing 2 pseudogene 2																		CCTGCTGTGGCAAATCCGAGT	0.493													ENSG00000182814																																					0																																												0			-			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84518513C>A				R	SNP	-	NULL	ENST00000331369.5	37	NULL		2																																																																																			-	FUNDC2P2	-	-		0.493	FUNDC2P2-001	KNOWN	basic	processed_transcript	FUNDC2P2	HGNC	pseudogene	OTTHUMT00000333681.1	0	0	0	13	13	62	0.00	0.00	C	NR_003663		84518513	+1	10	11	13	28	tier1	no_errors	ENST00000331369	ensembl	human	known	74_37	rna	43.48	28.21	SNP	0.059	A	10	13
ASRGL1	80150	genome.wustl.edu	37	11	62105471	62105471	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:62105471C>T	ENST00000415229.2	+	2	237	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	RP11-703H8.7_ENST00000400902.4_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.H8Y|ASRGL1_ENST00000535727.1_5'UTR	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	8					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CGTAGTGGTCCACGGCGGCGG	0.657													ENSG00000162174																																					0													18.0	15.0	16.0					11																	62105471		2201	4296	6497	SO:0001583	missense	0			-		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.22C>T	11.37:g.62105471C>T	ENSP00000400057:p.His8Tyr		B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	pfam_Peptidase_T2	p.H8Y	ENST00000415229.2	37	c.22	CCDS8019.1	11	.	.	.	.	.	.	.	.	.	.	c	18.23	3.578898	0.65878	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.88896	-2.44;-2.44	4.36	4.36	0.52297	.	0.114193	0.64402	D	0.000015	D	0.96815	0.8960	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97292	0.9925	10	0.62326	D	0.03	-20.4722	12.2532	0.54610	0.0:1.0:0.0:0.0	.	8	Q7L266	ASGL1_HUMAN	Y	8	ENSP00000400057:H8Y;ENSP00000301776:H8Y	ENSP00000301776:H8Y	H	+	1	0	ASRGL1	61862047	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	4.627000	0.61276	2.255000	0.74692	0.555000	0.69702	CAC	-	ASRGL1	-	pfam_Peptidase_T2		0.657	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASRGL1	HGNC	protein_coding	OTTHUMT00000394865.1	0	0	0	35	35	62	0.00	0.00	C	NM_001083926		62105471	+1	6	16	23	45	tier1	no_errors	ENST00000301776	ensembl	human	known	74_37	missense	20.69	26.23	SNP	1.000	T	6	23
FAM46D	169966	genome.wustl.edu	37	X	79699000	79699000	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chrX:79699000T>C	ENST00000308293.5	+	3	1201	c.962T>C	c.(961-963)aTt>aCt	p.I321T	FAM46D_ENST00000538312.1_Missense_Mutation_p.I321T	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	321										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGAAGACAGATTCTCCACCTG	0.403													ENSG00000174016																																					0													134.0	112.0	119.0					X																	79699000		2203	4299	6502	SO:0001583	missense	0			-	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.962T>C	X.37:g.79699000T>C	ENSP00000308575:p.Ile321Thr		B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	pfam_DUF1693	p.I321T	ENST00000308293.5	37	c.962	CCDS14446.1	X	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.459074	0.00173	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.18174	2.23;2.23	4.35	3.44	0.39384	Domain of unknown function DUF1693 (1);	0.060971	0.64402	N	0.000004	T	0.01976	0.0062	N	0.00017	-2.845	0.29192	N	0.875777	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	10	0.02654	T	1	-3.9343	10.3311	0.43823	0.0:0.8987:0.0:0.1013	.	321	Q8NEK8	FA46D_HUMAN	T	321	ENSP00000443410:I321T;ENSP00000308575:I321T	ENSP00000308575:I321T	I	+	2	0	FAM46D	79585656	1.000000	0.71417	0.795000	0.32087	0.009000	0.06853	5.333000	0.65917	0.827000	0.34685	-0.251000	0.11542	ATT	-	FAM46D	-	pfam_DUF1693		0.403	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	HGNC	protein_coding	OTTHUMT00000057338.1	0	0	0	15	15	34	0.00	0.00	T	NM_152630		79699000	+1	7	13	19	46	tier1	no_errors	ENST00000308293	ensembl	human	known	74_37	missense	26.92	22.03	SNP	0.997	C	7	19
TP53	7157	genome.wustl.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr17:7578370C>T	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_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.?(54)|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)	CAGCTGCTCACCATCGCTATC	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"""	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)											48.0	46.0	47.0					17																	7578370		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+1G>A	17.37:g.7578370C>T			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	SNP	-	e4+1	ENST00000269305.4	37	c.559+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774230	0.31411	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.	-	TP53	-	-		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	21	21	71	0.00	0.00	C	NM_000546	Intron	7578370	-1	11	23	17	25	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	39.29	47.92	SNP	1.000	T	11	17
CLCA2	9635	genome.wustl.edu	37	1	86913240	86913240	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:86913240C>T	ENST00000370565.4	+	11	1925	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	588					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCTCTGCAAGCCCTGAAAGTG	0.483													ENSG00000137975																									Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													151.0	146.0	148.0					1																	86913240		2203	4300	6503	SO:0001583	missense	0			-		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1763C>T	1.37:g.86913240C>T	ENSP00000359596:p.Ala588Val		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.A588V	ENST00000370565.4	37	c.1763	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738206	0.30774	.	.	ENSG00000137975	ENST00000370565	T	0.30448	1.53	5.61	4.7	0.59300	Domain of unknown function DUF1973 (1);	0.201250	0.42294	D	0.000727	T	0.12732	0.0309	L	0.56396	1.775	0.31943	N	0.610716	B	0.30763	0.294	B	0.31614	0.133	T	0.09314	-1.0680	10	0.17369	T	0.5	-9.8726	7.4261	0.27100	0.0:0.7125:0.1538:0.1337	.	588	Q9UQC9	CLCA2_HUMAN	V	588	ENSP00000359596:A588V	ENSP00000359596:A588V	A	+	2	0	CLCA2	86685828	0.266000	0.24112	0.996000	0.52242	0.764000	0.43329	0.347000	0.20014	2.653000	0.90120	0.655000	0.94253	GCC	-	CLCA2	-	pfam_DUF1973,tigrfam_CaCC_prot		0.483	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	0	0	0	34	34	153	0.00	0.00	C	NM_006536		86913240	+1	6	19	44	109	tier1	no_errors	ENST00000370565	ensembl	human	known	74_37	missense	12.00	14.84	SNP	0.914	T	6	44
POU5F2	134187	genome.wustl.edu	37	5	93076580	93076580	+	Silent	SNP	C	C	T	rs552948117		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr5:93076580C>T	ENST00000510627.4	-	1	763	c.690G>A	c.(688-690)caG>caA	p.Q230Q	POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	230					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TAGGGCACCGCTGGAAGAATT	0.537													ENSG00000248483	C|||	1	0.000199681	0.0	0.0	5008	,	,		17965	0.0		0.001	False		,,,				2504	0.0																0													68.0	67.0	67.0					5																	93076580		1973	4178	6151	SO:0001819	synonymous_variant	0			-		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.690G>A	5.37:g.93076580C>T			Q15169|Q6MZL7|Q8N748	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.Q230	ENST00000510627.4	37	c.690	CCDS59489.1	5																																																																																			-	POU5F2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.537	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	0	0	0	30	30	102	0.00	0.00	C	NM_153216		93076580	-1	5	14	36	47	tier1	no_errors	ENST00000510627	ensembl	human	known	74_37	silent	12.20	22.95	SNP	0.996	T	5	36
OR4A47	403253	genome.wustl.edu	37	11	48510958	48510958	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:48510958G>T	ENST00000446524.1	+	1	690	c.614G>T	c.(613-615)tGc>tTc	p.C205F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGACTGGCTTGCACTATTGTG	0.443													ENSG00000237388																																					0													110.0	107.0	108.0					11																	48510958		2201	4298	6499	SO:0001583	missense	0			-	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.614G>T	11.37:g.48510958G>T	ENSP00000412752:p.Cys205Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C205F	ENST00000446524.1	37	c.614	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	12.44	1.938139	0.34189	.	.	ENSG00000237388	ENST00000446524	T	0.27720	1.65	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.43765	0.1262	L	0.31476	0.935	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.32214	-0.9915	10	0.87932	D	0	.	14.873	0.70474	0.0:0.0:1.0:0.0	.	205	Q6IF82	O4A47_HUMAN	F	205	ENSP00000412752:C205F	ENSP00000412752:C205F	C	+	2	0	OR4A47	48467534	0.001000	0.12720	0.022000	0.16811	0.776000	0.43924	1.045000	0.30341	2.082000	0.62665	0.205000	0.17691	TGC	-	OR4A47	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	HGNC	protein_coding	OTTHUMT00000390559.1	0	0	0	18	18	43	0.00	0.00	G	NM_001005512		48510958	+1	7	7	28	30	tier1	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	20.00	18.92	SNP	0.032	T	7	28
G6PC2	57818	genome.wustl.edu	37	2	169764394	169764394	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:169764394C>A	ENST00000375363.3	+	5	965	c.873C>A	c.(871-873)agC>agA	p.S291R	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	291					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ACACACTGAGCTTCCGGTTGC	0.493													ENSG00000152254																																					0													128.0	123.0	125.0					2																	169764394		2203	4300	6503	SO:0001583	missense	0			-	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.873C>A	2.37:g.169764394C>A	ENSP00000364512:p.Ser291Arg		E9PAX2|Q6AHZ0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.S291R	ENST00000375363.3	37	c.873	CCDS2230.1	2	.	.	.	.	.	.	.	.	.	.	C	10.55	1.383042	0.25031	.	.	ENSG00000152254	ENST00000375363	T	0.76709	-1.04	5.98	2.89	0.33648	.	0.269559	0.37809	N	0.001922	T	0.60405	0.2266	L	0.37750	1.13	0.80722	D	1	P	0.39216	0.664	B	0.34242	0.178	T	0.52675	-0.8544	10	0.15952	T	0.53	-6.8791	6.9045	0.24301	0.0:0.5991:0.0:0.4009	.	291	Q9NQR9	G6PC2_HUMAN	R	291	ENSP00000364512:S291R	ENSP00000364512:S291R	S	+	3	2	G6PC2	169472640	0.999000	0.42202	0.996000	0.52242	0.129000	0.20672	0.730000	0.26043	0.875000	0.35847	0.655000	0.94253	AGC	-	G6PC2	-	pirsf_Glucose-6-phosphatase		0.493	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC2	HGNC	protein_coding	OTTHUMT00000255234.2	0	0	0	39	39	97	0.00	0.00	C	NM_021176		169764394	+1	11	13	43	55	tier1	no_errors	ENST00000375363	ensembl	human	known	74_37	missense	20.37	19.12	SNP	0.997	A	11	43
ARCN1	372	genome.wustl.edu	37	11	118454689	118454689	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:118454689A>G	ENST00000264028.4	+	4	708	c.613A>G	c.(613-615)Att>Gtt	p.I205V	ARCN1_ENST00000359415.4_Missense_Mutation_p.I246V|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.I117V	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	205					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGAGACCATCATTGAAACTGA	0.468													ENSG00000095139																																					0													96.0	90.0	92.0					11																	118454689		2200	4295	6495	SO:0001583	missense	0			-	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.613A>G	11.37:g.118454689A>G	ENSP00000264028:p.Ile205Val		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.I205V	ENST00000264028.4	37	c.613	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597785	0.28445	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.49720	0.77;0.77;0.77	5.89	5.89	0.94794	.	0.096179	0.64402	D	0.000001	T	0.29882	0.0747	N	0.11818	0.18	0.51767	D	0.999935	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.15694	-1.0428	10	0.10636	T	0.68	-6.3768	15.9724	0.80031	1.0:0.0:0.0:0.0	.	117;246;205	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	V	117;246;205	ENSP00000376599:I117V;ENSP00000352385:I246V;ENSP00000264028:I205V	ENSP00000264028:I205V	I	+	1	0	ARCN1	117959899	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.520000	0.60524	2.257000	0.74773	0.460000	0.39030	ATT	-	ARCN1	-	NULL		0.468	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	0	0	0	12	12	96	0.00	0.00	A			118454689	+1	5	23	24	78	tier1	no_errors	ENST00000264028	ensembl	human	known	74_37	missense	17.24	22.77	SNP	1.000	G	5	24
HPD	3242	genome.wustl.edu	37	12	122284821	122284821	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:122284821C>T	ENST00000289004.4	-	11	813	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000543163.1_Missense_Mutation_p.G221R	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	260					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CCAGCGCCCCCGTTATAGTCC	0.562													ENSG00000158104																																					0													86.0	76.0	79.0					12																	122284821		2203	4300	6503	SO:0001583	missense	0			-	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.778G>A	12.37:g.122284821C>T	ENSP00000289004:p.Gly260Arg		A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase	p.G260R	ENST00000289004.4	37	c.778	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108492	0.56291	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.70045	-0.45;-0.45	5.55	5.55	0.83447	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.64630	1.985	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.76049	-0.3101	10	0.42905	T	0.14	-41.0596	19.5083	0.95130	0.0:1.0:0.0:0.0	.	260	P32754	HPPD_HUMAN	R	260;257;221	ENSP00000289004:G260R;ENSP00000441677:G221R	ENSP00000289004:G260R	G	-	1	0	HPD	120769204	1.000000	0.71417	0.923000	0.36655	0.163000	0.22366	7.466000	0.80914	2.600000	0.87896	0.655000	0.94253	GGG	-	HPD	-	pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase		0.562	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	HGNC	protein_coding	OTTHUMT00000402184.1	0	0	0	20	20	89	0.00	0.00	C	NM_002150		122284821	-1	15	37	32	79	tier1	no_errors	ENST00000289004	ensembl	human	known	74_37	missense	31.91	31.90	SNP	1.000	T	15	32
DCC	1630	genome.wustl.edu	37	18	50450188	50450188	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr18:50450188G>C	ENST00000442544.2	+	4	1425	c.809G>C	c.(808-810)aGt>aCt	p.S270T	DCC_ENST00000412726.1_Missense_Mutation_p.S118T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	270	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTCCACCAAGTTTTACCTGG	0.393													ENSG00000187323																																					0													141.0	115.0	124.0					18																	50450188		2203	4300	6503	SO:0001583	missense	0			-	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.809G>C	18.37:g.50450188G>C	ENSP00000389140:p.Ser270Thr			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S270T	ENST00000442544.2	37	c.809	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422310	0.25639	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.68181	-0.31;-0.31	5.74	4.87	0.63330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228496	0.42821	D	0.000650	T	0.39517	0.1081	N	0.12920	0.275	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.31668	-0.9935	10	0.02654	T	1	.	5.0138	0.14326	0.0795:0.1455:0.6249:0.1502	.	118;270	E7EQM8;P43146	.;DCC_HUMAN	T	270;203;118	ENSP00000389140:S270T;ENSP00000397322:S118T	ENSP00000304146:S203T	S	+	2	0	DCC	48704186	0.993000	0.37304	0.991000	0.47740	0.910000	0.53928	0.601000	0.24119	1.437000	0.47472	0.650000	0.86243	AGT	-	DCC	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.393	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	0	0	0	33	33	143	0.00	0.00	G	NM_005215		50450188	+1	4	28	46	115	tier1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	8.00	19.58	SNP	0.994	C	4	46
FAIM3	9214	genome.wustl.edu	37	1	207095211	207095211	+	5'UTR	SNP	G	G	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:207095211G>C	ENST00000367091.3	-	0	132				FAIM3_ENST00000442471.2_5'UTR|FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000420007.2_5'UTR	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3						cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GTCCCTTCTAGAGTGCAAGGT	0.517													ENSG00000162894																																					0													75.0	69.0	71.0					1																	207095211		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.-12C>G	1.37:g.207095211G>C			A8K7J2|B7Z6Z0|D9MWM3	R	SNP	-	NULL	ENST00000367091.3	37	NULL	CCDS1473.1	1																																																																																			-	FAIM3	-	-		0.517	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	HGNC	protein_coding	OTTHUMT00000088677.1	0	0	0	32	32	168	0.00	0.00	G	NM_005449		207095211	-1	11	25	28	65	tier1	no_errors	ENST00000528654	ensembl	human	known	74_37	rna	28.21	27.78	SNP	0.003	C	11	28
LYN	4067	genome.wustl.edu	37	8	56922483	56922483	+	Silent	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr8:56922483C>T	ENST00000519728.1	+	13	1649	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	LYN_ENST00000520220.2_Silent_p.D430D	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CTAATGCCGACGTGATGACCG	0.498													ENSG00000254087																																					0													60.0	58.0	59.0					8																	56922483		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1353C>T	8.37:g.56922483C>T			A0AVQ5	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.D451	ENST00000519728.1	37	c.1353	CCDS6162.1	8																																																																																			-	LYN	-	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,pfscan_Prot_kinase_dom		0.498	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	0	0	0	13	13	43	0.00	0.00	C	NM_002350		56922483	+1	20	11	19	45	tier1	no_errors	ENST00000519728	ensembl	human	known	74_37	silent	51.28	19.64	SNP	0.042	T	20	19
GTF3C5	9328	genome.wustl.edu	37	9	135927532	135927532	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr9:135927532C>T	ENST00000372097.5	+	5	1177	c.854C>T	c.(853-855)cCc>cTc	p.P285L	GTF3C5_ENST00000372095.5_Missense_Mutation_p.P160L|GTF3C5_ENST00000372099.6_Missense_Mutation_p.P276L|GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P285L	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	285					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GTCTTGCTTCCCTTCATAGCC	0.557													ENSG00000148308																																					0													334.0	247.0	276.0					9																	135927532		2203	4300	6503	SO:0001583	missense	0			-	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.854C>T	9.37:g.135927532C>T	ENSP00000361169:p.Pro285Leu		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	pfam_TF_IIIC_su-5	p.P285L	ENST00000372097.5	37	c.854	CCDS6958.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.855184|4.855184	0.91355|0.91355	.|.	.|.	ENSG00000148308|ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000439697|ENST00000434175	T;T;T|.	0.54866|.	0.55;0.55;0.55|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78168|0.78168	0.4241|0.4241	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.994;1.0|.	T|T	0.82257|0.82257	-0.0547|-0.0547	10|7	0.87932|0.87932	D|D	0|0	-0.8027|-0.8027	16.9734|16.9734	0.86306|0.86306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	160;285;285|.	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8|.	.;.;TF3C5_HUMAN|.	L|S	285;238;276;160;135;285;160|57	ENSP00000361169:P285L;ENSP00000361171:P276L;ENSP00000361180:P285L|.	ENSP00000361161:P135L|ENSP00000387697:P57S	P|P	+|+	2|1	0|0	GTF3C5|GTF3C5	134917353|134917353	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.956000|0.956000	0.61745|0.61745	7.273000|7.273000	0.78527|0.78527	2.250000|2.250000	0.74265|0.74265	0.643000|0.643000	0.83706|0.83706	CCC|CCT	-	GTF3C5	-	pfam_TF_IIIC_su-5		0.557	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	0	0	0	32	32	77	0.00	0.00	C	NM_001122823		135927532	+1	19	28	39	76	tier1	no_errors	ENST00000372108	ensembl	human	known	74_37	missense	32.76	26.92	SNP	1.000	T	19	39
NXF4	55999	genome.wustl.edu	37	X	101822963	101822963	+	RNA	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chrX:101822963G>A	ENST00000360035.2	+	0	2716					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						AAGCCAACTGGTAGATCCAAG	0.458													ENSG00000196970																																					0																																												0			-	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101822963G>A				R	SNP	-	NULL	ENST00000360035.2	37	NULL		X																																																																																			-	NXF4	-	-		0.458	NXF4-001	KNOWN	basic	processed_transcript	NXF4	HGNC	pseudogene	OTTHUMT00000095720.1	0	0	0	16	16	78	0.00	0.00	G			101822963	+1	9	9	11	81	tier1	no_errors	ENST00000360035	ensembl	human	known	74_37	rna	45.00	10.00	SNP	0.000	A	9	11
OSBPL5	114879	genome.wustl.edu	37	11	3113683	3113683	+	Silent	SNP	G	G	T	rs141473758		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:3113683G>T	ENST00000263650.7	-	19	2397	c.2238C>A	c.(2236-2238)ggC>ggA	p.G746G	OSBPL5_ENST00000525498.1_Silent_p.G657G|OSBPL5_ENST00000542243.1_Silent_p.G377G|OSBPL5_ENST00000348039.5_Silent_p.G678G|OSBPL5_ENST00000389989.3_Silent_p.G678G|OSBPL5_ENST00000478260.1_Silent_p.G200G	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	746					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCCCTGGGCTGCCCAGGAAGG	0.692											OREG0020694	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000021762																																					0													20.0	18.0	19.0					11																	3113683		2189	4289	6478	SO:0001819	synonymous_variant	0			-	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2238C>A	11.37:g.3113683G>T		608	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G746	ENST00000263650.7	37	c.2238	CCDS31344.1	11																																																																																			-	OSBPL5	-	NULL		0.692	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	0	0	0	88	88	14	0.00	0.00	G			3113683	-1	13	3	116	22	tier1	no_errors	ENST00000263650	ensembl	human	known	74_37	silent	10.08	12.00	SNP	1.000	T	13	116
TBC1D30	23329	genome.wustl.edu	37	12	65225912	65225912	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:65225912C>T	ENST00000229088.6	+	6	911	c.911C>T	c.(910-912)aCa>aTa	p.T304I	TBC1D30_ENST00000539867.1_Missense_Mutation_p.T141I|TBC1D30_ENST00000542120.1_Missense_Mutation_p.T27I			Q9Y2I9	TBC30_HUMAN	TBC1 domain family, member 30	304	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)	ciliary basal body (GO:0036064)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			NS(3)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	5						CTTCACCGCACAGGCTGTAGT	0.433													ENSG00000111490																																					0																																										SO:0001583	missense	0			-	AB023201	CCDS53813.1	12q14.3	2013-07-10			ENSG00000111490	ENSG00000111490			29164	protein-coding gene	gene with protein product		615077				12618308, 17646400	Standard	NM_015279		Approved	KIAA0984	uc010sst.2	Q9Y2I9	OTTHUMG00000168824	ENST00000229088.6:c.911C>T	12.37:g.65225912C>T	ENSP00000229088:p.Thr304Ile		B3KP01|B9A6M9|E7EMW4|F5GYJ9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T304I	ENST00000229088.6	37	c.911		12	.	.	.	.	.	.	.	.	.	.	c	25.1	4.602774	0.87157	.	.	ENSG00000111490	ENST00000229088;ENST00000542120;ENST00000539867;ENST00000455166;ENST00000544457;ENST00000411580;ENST00000539120	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.93	4.93	0.64822	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.67118	-0.5751	9	.	.	.	-21.0825	18.3377	0.90294	0.0:1.0:0.0:0.0	.	141;304;141	F5GYJ9;Q9Y2I9;E7EMW4	.;TBC30_HUMAN;.	I	304;27;141;141;99;99;27	ENSP00000229088:T304I;ENSP00000440640:T27I;ENSP00000440207:T141I;ENSP00000442442:T27I	.	T	+	2	0	TBC1D30	63512179	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.047000	0.76599	2.553000	0.86117	0.563000	0.77884	ACA	-	TBC1D30	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.433	TBC1D30-201	KNOWN	basic	protein_coding	TBC1D30	HGNC	protein_coding		0	0	0	29	29	86	0.00	0.00	C	XM_037557		65225912	+1	8	15	51	102	tier1	no_errors	ENST00000229088	ensembl	human	known	74_37	missense	13.56	12.82	SNP	1.000	T	8	51
SEMA3A	10371	genome.wustl.edu	37	7	83739786	83739786	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:83739786C>T	ENST00000265362.4	-	4	767	c.453G>A	c.(451-453)gaG>gaA	p.E151E	SEMA3A_ENST00000436949.1_Splice_Site_p.E151E	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	151	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCAGCGTTACCTCAGGATGAT	0.373													ENSG00000075213																																					0													87.0	84.0	85.0					7																	83739786		2203	4300	6503	SO:0001630	splice_region_variant	0			-	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.453+1G>A	7.37:g.83739786C>T				Silent	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.E151	ENST00000265362.4	37	c.453	CCDS5599.1	7																																																																																			-	SEMA3A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.373	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	0	0	0	15	15	96	0.00	0.00	C	NM_006080	Silent	83739786	-1	6	12	30	51	tier1	no_errors	ENST00000265362	ensembl	human	known	74_37	silent	16.67	18.75	SNP	1.000	T	6	30
AFAP1	60312	genome.wustl.edu	37	4	7780398	7780398	+	Intron	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:7780398G>A	ENST00000360265.4	-	12	1880				AFAP1_ENST00000513842.1_Intron|AFAP1_ENST00000358461.2_Intron|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000420658.1_Intron|AFAP1_ENST00000382543.3_Intron			Q8N556	AFAP1_HUMAN	actin filament associated protein 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTGACCCCAAGCTGGCACTCA	0.567													ENSG00000272620																																					0																																										SO:0001627	intron_variant	0			-	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1645+90C>T	4.37:g.7780398G>A			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	R	SNP	-	NULL	ENST00000360265.4	37	NULL	CCDS3397.1	4																																																																																			-	AFAP1-AS1	-	-		0.567	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1-AS1	HGNC	protein_coding	OTTHUMT00000246842.2	0	0	0	18	18	75	0.00	0.00	G	NM_021638		7780398	+1	4	18	17	48	tier1	no_errors	ENST00000608442	ensembl	human	known	74_37	rna	19.05	27.27	SNP	0.000	A	4	17
NBPF6	653149	genome.wustl.edu	37	1	108918849	108918849	+	Intron	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:108918849G>A	ENST00000444143.2	+	1	183				NBPF5P_ENST00000357046.4_RNA|NBPF6_ENST00000294652.8_Intron			Q5VWK0	NBPF6_HUMAN	neuroblastoma breakpoint family, member 6							cytoplasm (GO:0005737)				endometrium(2)	2						GCAGTTCCGAGACCTCAAAGA	0.478													ENSG00000243967																																					0																																										SO:0001627	intron_variant	0			-		CCDS44184.1	1p13.3	2013-01-17				ENSG00000186086		"""neuroblastoma breakpoint family"""	31988	protein-coding gene	gene with protein product		613996				16079250	Standard	NM_001143987		Approved		uc009wep.3	Q5VWK0	OTTHUMG00000039830	ENST00000444143.2:c.-36+246G>A	1.37:g.108918849G>A			A4QN25	R	SNP	-	NULL	ENST00000444143.2	37	NULL	CCDS44184.1	1																																																																																			-	NBPF5P	-	-		0.478	NBPF6-203	KNOWN	basic|CCDS	protein_coding	NBPF5P	HGNC	protein_coding	OTTHUMT00000276886.3	0	0	0	59	59	71	0.00	0.00	G	XM_926213		108918849	+1	15	8	71	48	tier1	no_errors	ENST00000357046	ensembl	human	known	74_37	rna	17.44	14.29	SNP	0.027	A	15	71
SHROOM3	57619	genome.wustl.edu	37	4	77414532	77414532	+	Intron	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:77414532G>A	ENST00000296043.6	+	1	1121				AC112249.1_ENST00000408191.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3						actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			atttagctgggagtcctgtat	0.338													ENSG00000221118																																					0																																										SO:0001627	intron_variant	0			-	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.168+57159G>A	4.37:g.77414532G>A			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	R	SNP	-	NULL	ENST00000296043.6	37	NULL	CCDS3579.2	4																																																																																			-	AC112249.1	-	-		0.338	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221118	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000252408.2	0	0	0	34	34	113	0.00	0.00	G	NM_020859		77414532	-1	13	15	38	104	tier1	no_errors	ENST00000408191	ensembl	human	novel	74_37	rna	25.49	12.61	SNP	0.005	A	13	38
IFT52	51098	genome.wustl.edu	37	20	42271199	42271199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr20:42271199C>T	ENST00000373030.3	+	13	1331	c.1201C>T	c.(1201-1203)Cag>Tag	p.Q401*	IFT52_ENST00000373039.4_Nonsense_Mutation_p.Q401*|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	401					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAAGGACCAACAGGATGCCAA	0.448													ENSG00000101052																																					0													160.0	140.0	147.0					20																	42271199		2203	4300	6503	SO:0001587	stop_gained	0			-	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1201C>T	20.37:g.42271199C>T	ENSP00000362121:p.Gln401*		B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Nonsense_Mutation	SNP	pfam_ABC_transp_unknown	p.Q401*	ENST00000373030.3	37	c.1201	CCDS33470.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.231442	0.98150	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.36	5.36	0.76844	.	0.240402	0.41294	D	0.000912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-15.837	18.2537	0.90012	0.0:1.0:0.0:0.0	.	.	.	.	X	401	.	ENSP00000362121:Q401X	Q	+	1	0	IFT52	41704613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.397000	0.44477	2.682000	0.91365	0.650000	0.86243	CAG	-	IFT52	-	NULL		0.448	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	HGNC	protein_coding	OTTHUMT00000079317.1	0	0	0	35	35	182	0.00	0.00	C	NM_016004		42271199	+1	11	40	24	130	tier1	no_errors	ENST00000373030	ensembl	human	known	74_37	nonsense	31.43	23.53	SNP	1.000	T	11	24
DSPP	1834	genome.wustl.edu	37	4	88537344	88537344	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:88537344G>A	ENST00000282478.7	+	4	3563	c.3530G>A	c.(3529-3531)aGc>aAc	p.S1177N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.S1177N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1177	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agcagtgacagcagcaatagc	0.562													ENSG00000152591																																					0													52.0	72.0	65.0					4																	88537344		1633	2898	4531	SO:0001583	missense	0			-	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3530G>A	4.37:g.88537344G>A	ENSP00000282478:p.Ser1177Asn		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.S1177N	ENST00000282478.7	37	c.3530	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	g	0.255	-1.003573	0.02128	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87809	-2.3;-2.3	2.34	1.48	0.22813	.	0.953605	0.08550	U	0.929197	T	0.78515	0.4295	L	0.38175	1.15	0.09310	N	1	B	0.23540	0.087	B	0.28784	0.094	T	0.61068	-0.7137	10	0.11794	T	0.64	-5.9401	5.0651	0.14578	0.1784:0.0:0.8216:0.0	.	1177	Q9NZW4	DSPP_HUMAN	N	1177	ENSP00000382213:S1177N;ENSP00000282478:S1177N	ENSP00000282478:S1177N	S	+	2	0	DSPP	88756368	0.915000	0.31059	0.016000	0.15963	0.027000	0.11550	2.050000	0.41297	0.556000	0.29098	0.298000	0.19748	AGC	-	DSPP	-	NULL		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	0	0	0	45	45	16	0.00	0.00	G	NM_014208		88537344	+1	8	2	39	10	tier1	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	17.02	16.67	SNP	0.201	A	8	39
ATG2B	55102	genome.wustl.edu	37	14	96792222	96792222	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr14:96792222T>G	ENST00000359933.4	-	15	3094	c.2201A>C	c.(2200-2202)cAt>cCt	p.H734P	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	734					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGCAGGACTATGTGAATCATC	0.353													ENSG00000066739																																					0													88.0	79.0	82.0					14																	96792222		1929	4129	6058	SO:0001583	missense	0			-	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2201A>C	14.37:g.96792222T>G	ENSP00000353010:p.His734Pro		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.H734P	ENST00000359933.4	37	c.2201	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495097	0.26774	.	.	ENSG00000066739	ENST00000359933	T	0.09350	2.99	5.6	5.6	0.85130	.	0.000000	0.38326	U	0.001723	T	0.07773	0.0195	L	0.27053	0.805	0.44447	D	0.99737	P	0.34909	0.475	B	0.34722	0.188	T	0.38757	-0.9646	10	0.27082	T	0.32	.	8.266	0.31815	0.0:0.1478:0.0:0.8522	.	734	Q96BY7	ATG2B_HUMAN	P	734	ENSP00000353010:H734P	ENSP00000353010:H734P	H	-	2	0	ATG2B	95861975	1.000000	0.71417	0.980000	0.43619	0.907000	0.53573	2.687000	0.46976	2.143000	0.66587	0.460000	0.39030	CAT	-	ATG2B	-	NULL		0.353	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	0	0	0	23	23	152	0.00	0.00	T	NM_018036		96792222	-1	16	46	32	96	tier1	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	33.33	32.39	SNP	1.000	G	16	32
GRM5	2915	genome.wustl.edu	37	11	88583213	88583213	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:88583213C>G	ENST00000305447.4	-	2	921	c.772G>C	c.(772-774)Gat>Cat	p.D258H	GRM5_ENST00000305432.5_Missense_Mutation_p.D258H|GRM5_ENST00000455756.2_Missense_Mutation_p.D258H|GRM5_ENST00000393297.1_Missense_Mutation_p.D258H|GRM5_ENST00000418177.2_Missense_Mutation_p.D258H	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	258					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.D258N(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGCAGCTTATCAAAGCTCTGC	0.522													ENSG00000168959																																					2	Substitution - Missense(2)	lung(2)											35.0	36.0	35.0					11																	88583213		2201	4296	6497	SO:0001583	missense	0			-	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.772G>C	11.37:g.88583213C>G	ENSP00000306138:p.Asp258His		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.D258H	ENST00000305447.4	37	c.772	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499973	0.85176	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91358	0.7274	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.96;0.998	D	0.91072	0.4893	9	.	.	.	.	19.1659	0.93557	0.0:1.0:0.0:0.0	.	258;258	P41594-2;P41594	.;GRM5_HUMAN	H	258	ENSP00000402912:D258H;ENSP00000405690:D258H;ENSP00000305905:D258H;ENSP00000306138:D258H;ENSP00000376975:D258H	.	D	-	1	0	GRM5	88222861	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.145000	0.77365	2.528000	0.85240	0.563000	0.77884	GAT	-	GRM5	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt		0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	0	0	0	35	35	48	0.00	0.00	C	NM_000842		88583213	-1	14	12	47	30	tier1	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	22.95	28.57	SNP	1.000	G	14	47
NEFM	4741	genome.wustl.edu	37	8	24774766	24774766	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr8:24774766G>T	ENST00000221166.5	+	3	2180	c.1398G>T	c.(1396-1398)aaG>aaT	p.K466N	NEFM_ENST00000518131.1_Missense_Mutation_p.K466N|NEFM_ENST00000433454.2_Missense_Mutation_p.K90N|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.K466N			P07197	NFM_HUMAN	neurofilament, medium polypeptide	466	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGATGAGAAGTCAGAAATGG	0.468													ENSG00000104722																																					0													71.0	71.0	71.0					8																	24774766		2203	4300	6503	SO:0001583	missense	0			-	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1398G>T	8.37:g.24774766G>T	ENSP00000221166:p.Lys466Asn		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_D-bd,superfamily_Prefoldin,prints_Keratin_I	p.K466N	ENST00000221166.5	37	c.1398	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722252	0.30503	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94862	-1.81;-1.81;-1.8;-3.54	4.63	1.52	0.23074	.	0.000000	0.47093	D	0.000241	D	0.96034	0.8708	M	0.83953	2.67	0.43317	D	0.995334	D;D	0.69078	0.991;0.997	P;P	0.60789	0.831;0.879	D	0.94489	0.7700	10	0.87932	D	0	.	9.2321	0.37444	0.2888:0.0:0.7112:0.0	.	466;466	E7EMV2;P07197	.;NFM_HUMAN	N	466;466;466;90	ENSP00000221166:K466N;ENSP00000427872:K466N;ENSP00000410137:K466N;ENSP00000412295:K90N	ENSP00000221166:K466N	K	+	3	2	NEFM	24830671	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.697000	0.37784	0.044000	0.15775	-0.363000	0.07495	AAG	-	NEFM	-	NULL		0.468	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	0	0	0	26	26	149	0.00	0.00	G	NM_005382		24774766	+1	9	30	25	74	tier1	no_errors	ENST00000221166	ensembl	human	known	74_37	missense	26.47	28.85	SNP	1.000	T	9	25
CFAP58	159686	genome.wustl.edu	37	10	106209901	106209901	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:106209901A>G	ENST00000369704.3	+	17	2583	c.2449A>G	c.(2449-2451)Aat>Gat	p.N817D		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		817						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAACTTACCAATGAGCTCCA	0.328													ENSG00000120051																																					0													78.0	82.0	80.0					10																	106209901		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000369704.3:c.2449A>G	10.37:g.106209901A>G	ENSP00000358718:p.Asn817Asp		D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.N817D	ENST00000369704.3	37	c.2449	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661055	0.29515	.	.	ENSG00000120051	ENST00000369704	T	0.47177	0.85	5.76	5.76	0.90799	.	0.258042	0.44483	D	0.000442	T	0.38957	0.1060	L	0.41356	1.27	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25152	-1.0140	10	0.11182	T	0.66	-12.3532	16.0745	0.80960	1.0:0.0:0.0:0.0	.	817	Q5T655	CC147_HUMAN	D	817	ENSP00000358718:N817D	ENSP00000358718:N817D	N	+	1	0	CCDC147	106199891	0.997000	0.39634	0.931000	0.37212	0.605000	0.37080	3.521000	0.53472	2.201000	0.70794	0.528000	0.53228	AAT	-	CCDC147	-	NULL		0.328	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	0	0	0	19	19	110	0.00	0.00	A			106209901	+1	9	17	24	76	tier1	no_errors	ENST00000369704	ensembl	human	known	74_37	missense	27.27	18.28	SNP	1.000	G	9	24
TRIM46	80128	genome.wustl.edu	37	1	155159745	155159745	+	IGR	SNP	G	G	A	rs572153326		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:155159745G>A	ENST00000334634.4	+	0	3061				MUC1_ENST00000368392.3_Missense_Mutation_p.R226C|MUC1_ENST00000368390.3_Missense_Mutation_p.R217C|MUC1_ENST00000438413.1_Missense_Mutation_p.R191C|MUC1_ENST00000368395.1_Missense_Mutation_p.R437C|MUC1_ENST00000368389.2_Missense_Mutation_p.R130C|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368398.3_Missense_Mutation_p.R192C|MUC1_ENST00000368393.3_Missense_Mutation_p.A194V|MUC1_ENST00000343256.5_Missense_Mutation_p.R165C|MUC1_ENST00000337604.5_Missense_Mutation_p.R235C|MUC1_ENST00000342482.4_Missense_Mutation_p.R128C|RP11-201K10.3_ENST00000473363.2_Missense_Mutation_p.R2C|MUC1_ENST00000338684.5_Missense_Mutation_p.R186C|MUC1_ENST00000368396.4_Missense_Mutation_p.R121C|MUC1_ENST00000457295.2_Missense_Mutation_p.R226C	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCACATAGCGCCCATGGGTG	0.597													ENSG00000185499																																					0													96.0	97.0	97.0					1																	155159745		2203	4300	6503	SO:0001628	intergenic_variant	0			-		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155159745G>A			A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.R437C	ENST00000334634.4	37	c.1309	CCDS1097.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.884434|4.884434	0.91814|0.91814	.|.	.|.	ENSG00000185499|ENSG00000185499	ENST00000368393|ENST00000368395;ENST00000338684;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000425082;ENST00000368389;ENST00000368396;ENST00000343256;ENST00000342482;ENST00000368398;ENST00000368390;ENST00000337604	T|T;T;T;T;T;T;T;T;T;T;T;T	0.57107|0.31510	0.42|1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	.|0.000000	.|0.38897	.|N	.|0.001531	T|T	0.44932|0.44932	0.1317|0.1317	M|M	0.79475|0.79475	2.455|2.455	0.25155|0.25155	N|N	0.990392|0.990392	D;D;D;D;D;D|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.64830|0.89917	0.978;0.994;0.989;0.978;0.994;0.994|1.0;1.0;1.0;0.997;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0;0.998;1.0;1.0;0.997	B;P;P;B;P;P|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D	0.53649|0.91635	0.389;0.731;0.543;0.389;0.731;0.731|0.997;0.999;0.996;0.962;0.969;0.988;0.999;0.997;0.988;0.997;0.969;0.996;0.996;0.996;0.996;0.886;0.999;0.981;0.983;0.996;0.996;0.999;0.996;0.994;0.969;0.983;0.997;0.996;0.969;0.972;0.886;0.978;0.969;0.991;0.983;0.988;0.995;0.962	T|T	0.32745|0.32745	-0.9895|-0.9895	9|10	0.87932|0.87932	D|D	0|0	-24.8661|-24.8661	12.7814|12.7814	0.57479|0.57479	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	176;124;215;194;115;154|174;1226;226;232;1214;235;1205;175;191;244;186;121;523;523;437;244;201;139;217;203;200;107;205;179;151;192;165;121;112;235;226;128;119;130;192;191;177;217	B6ECB2;Q7Z539;A5YRU7;A6ZID9;A5YRV4;Q7Z538|B6ECB3;P15941-2;Q7Z547;A6ZID5;P15941-3;P15941-8;P15941-4;A6ZIE3;Q7Z546;B6ECA3;A5YRV1;A6ZIE5;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID7;A6ZIE6;P15941-7;A6ZID6;A5YRV0;A6ZIF0;A5YRU8;A5YRV2;A6ZIE4;P15941-6;P15941-10;Q7Z550;Q7Z551;B1AVR0;Q0VAP5;Q7Z548;Q7Z549;B1AVQ8;A6ZIE0;B1AVQ7;A6ZIE2;Q0VAP6	.;.;.;.;.;.|.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V|C	194|437;186;226;191;226;523;130;121;165;128;192;217;235	ENSP00000357378:A194V|ENSP00000357380:R437C;ENSP00000343482:R186C;ENSP00000357377:R226C;ENSP00000389098:R191C;ENSP00000388172:R226C;ENSP00000357374:R130C;ENSP00000357381:R121C;ENSP00000339690:R165C;ENSP00000342814:R128C;ENSP00000357383:R192C;ENSP00000357375:R217C;ENSP00000338983:R235C	ENSP00000357378:A194V|ENSP00000338983:R235C	A|R	-|-	2|1	0|0	MUC1|MUC1	153426369|153426369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	3.750000|3.750000	0.55157|0.55157	2.372000|2.372000	0.80975|0.80975	0.557000|0.557000	0.71058|0.71058	GCG|CGC	-	MUC1	-	NULL		0.597	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC1	HGNC	protein_coding	OTTHUMT00000086728.1	0	0	0	26	26	129	0.00	0.00	G	NM_025058		155159745	-1	4	24	19	67	tier1	no_errors	ENST00000368395	ensembl	human	known	74_37	missense	17.39	26.37	SNP	1.000	A	4	19
SLITRK3	22865	genome.wustl.edu	37	3	164906374	164906374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr3:164906374delG	ENST00000475390.1	-	2	2688	c.2245delC	c.(2245-2247)caafs	p.Q749fs	SLITRK3_ENST00000241274.3_Frame_Shift_Del_p.Q749fs			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	749					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGCACATTTGGGTAACCGGG	0.592										HNSCC(40;0.11)			ENSG00000121871																																					0													76.0	75.0	75.0					3																	164906374		2203	4300	6503	SO:0001589	frameshift_variant	0				AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2245delC	3.37:g.164906374delG	ENSP00000420091:p.Gln749fs		Q1RMY6	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q749fs	ENST00000475390.1	37	c.2245	CCDS3197.1	3																																																																																				SLITRK3	-	NULL		0.592	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	0	0	0	31	31	77	0.00	0.00	G	NM_014926		164906374	-1	8	16	15	50	tier1	no_errors	ENST00000241274	ensembl	human	known	74_37	frame_shift_del	34.78	24.24	DEL	1.000	-	8	15
BHLHE23	128408	genome.wustl.edu	37	20	61637484	61637484	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr20:61637484C>T	ENST00000370346.2	-	1	903	c.595G>A	c.(595-597)Gcc>Acc	p.A199T		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						GGCCCCAGGGCGGCGCCTGCG	0.736													ENSG00000125533																																					0													4.0	5.0	4.0					20																	61637484		2008	3988	5996	SO:0001583	missense	0			-	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"""Basic helix-loop-helix proteins"""	16093	protein-coding gene	gene with protein product		609331	"""basic helix-loop-helix domain containing, class B, 4"""	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.595G>A	20.37:g.61637484C>T	ENSP00000359371:p.Ala199Thr		B2RP69	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A199T	ENST00000370346.2	37	c.595	CCDS33507.1	20	.	.	.	.	.	.	.	.	.	.	C	11.75	1.733205	0.30684	.	.	ENSG00000125533	ENST00000370346	D	0.97529	-4.42	3.5	2.52	0.30459	.	0.000000	0.85682	U	0.000000	D	0.91938	0.7447	L	0.45137	1.4	0.58432	D	0.999991	P	0.45902	0.868	B	0.25506	0.061	D	0.88125	0.2834	10	0.40728	T	0.16	-2.51	11.5405	0.50663	0.0:0.817:0.183:0.0	.	199	Q8NDY6	BHE23_HUMAN	T	199	ENSP00000359371:A199T	ENSP00000359371:A199T	A	-	1	0	BHLHE23	61107929	0.101000	0.21875	0.228000	0.23943	0.084000	0.17831	0.475000	0.22164	0.414000	0.25790	0.491000	0.48974	GCC	-	BHLHE23	-	NULL		0.736	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE23	HGNC	protein_coding	OTTHUMT00000080095.2	0	0	0	11	11	7	0.00	0.00	C	NM_080606		61637484	-1	4	4	6	7	tier1	no_errors	ENST00000370346	ensembl	human	known	74_37	missense	40.00	36.36	SNP	0.994	T	4	6
FBRS	64319	genome.wustl.edu	37	16	30680597	30680598	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:30680597_30680598insT	ENST00000287468.5	+	12	1277_1278	c.1014_1015insT	c.(1015-1017)tttfs	p.F339fs	FBRS_ENST00000395073.2_Frame_Shift_Ins_p.F251fs|FBRS_ENST00000356166.6_Frame_Shift_Ins_p.F859fs|FBRS_ENST00000568722.1_Frame_Shift_Ins_p.F251fs	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	339										ovary(1)	1			Colorectal(24;0.103)			TTCACCTGCTGTTTGAGAGGCC	0.733													ENSG00000156860																																					0																																										SO:0001589	frameshift_variant	0				AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1017dupT	16.37:g.30680600_30680600dupT	ENSP00000287468:p.Phe339fs		B4DP86|Q96CI9|Q9H9X4	Frame_Shift_Ins	INS	prints_AUTS2	p.E859fs	ENST00000287468.5	37	c.2574_2575		16																																																																																				FBRS	-	NULL		0.733	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		0	0	0	36	36	11	0.00	0.00	-	NM_022452		30680598	+1	7	2	38	7	tier1	no_errors	ENST00000356166	ensembl	human	known	74_37	frame_shift_ins	15.56	22.22	INS	0.995:0.999	T	7	38
SCOC	60592	genome.wustl.edu	37	4	141294859	141294859	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:141294859C>A	ENST00000608372.1	+	1	196	c.169C>A	c.(169-171)Cct>Act	p.P57T	SCOC_ENST00000506597.1_Missense_Mutation_p.P57T|SCOC_ENST00000394205.3_Intron|SCOC_ENST00000506322.1_Intron|SCOC_ENST00000394203.3_Intron|SCOC_ENST00000510586.1_5'UTR|RP11-425I13.3_ENST00000512692.2_RNA|SCOC_ENST00000394201.4_5'UTR|SCOC_ENST00000512749.1_Intron|SCOC_ENST00000338517.4_Intron|SCOC_ENST00000502535.1_5'Flank|RP11-425I13.3_ENST00000609616.1_RNA|RP11-425I13.3_ENST00000608178.1_RNA			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	57					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					TCTCCCGGCGCCTCAAGCGGA	0.721													ENSG00000153130																																					0													28.0	31.0	30.0					4																	141294859		692	1591	2283	SO:0001583	missense	0			-	AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"""short coiled coil protein"""			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.169C>A	4.37:g.141294859C>A	ENSP00000477352:p.Pro57Thr		B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	pfam_DUF2205_coiled-coil	p.P57T	ENST00000608372.1	37	c.169	CCDS54806.1	4	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371488	0.24771	.	.	ENSG00000153130	ENST00000394201;ENST00000506597	.	.	.	5.27	4.43	0.53597	.	1.002640	0.08039	N	0.994872	T	0.39064	0.1064	L	0.29908	0.895	0.31208	N	0.699039	B;B	0.30068	0.267;0.164	B;B	0.30029	0.11;0.06	T	0.41502	-0.9505	9	0.49607	T	0.09	-11.951	10.2289	0.43243	0.0:0.908:0.0:0.092	.	57;57	E9PB65;Q9UIL1	.;SCOC_HUMAN	T	57	.	ENSP00000377751:P57T	P	+	1	0	SCOC	141514309	0.003000	0.15002	0.003000	0.11579	0.012000	0.07955	1.233000	0.32648	1.357000	0.45904	0.563000	0.77884	CCT	-	SCOC	-	NULL		0.721	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCOC	HGNC	protein_coding	OTTHUMT00000257274.2	0	0	0	60	60	21	0.00	0.00	C			141294859	+1	19	3	53	8	tier1	no_errors	ENST00000608372	ensembl	human	known	74_37	missense	26.39	27.27	SNP	0.015	A	19	53
VAV1	7409	genome.wustl.edu	37	19	6833926	6833926	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr19:6833926T>A	ENST00000602142.1	+	19	1821	c.1739T>A	c.(1738-1740)cTa>cAa	p.L580Q	VAV1_ENST00000596764.1_Missense_Mutation_p.L548Q|VAV1_ENST00000539284.1_Missense_Mutation_p.L483Q|VAV1_ENST00000304076.2_Missense_Mutation_p.L580Q|VAV1_ENST00000599806.1_Missense_Mutation_p.L525Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	580					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGGACAAACTACATCGCAGG	0.537													ENSG00000141968																																					0													98.0	102.0	101.0					19																	6833926		2203	4300	6503	SO:0001583	missense	0			-		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1739T>A	19.37:g.6833926T>A	ENSP00000472929:p.Leu580Gln		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.L580Q	ENST00000602142.1	37	c.1739	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	T	5.722	0.317727	0.10845	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.76316	-0.04;-1.01	3.95	0.497	0.16902	.	2.234620	0.01848	N	0.035735	T	0.60366	0.2263	N	0.14661	0.345	0.28894	N	0.893695	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.48456	-0.9034	10	0.11794	T	0.64	.	5.9989	0.19509	0.0:0.5582:0.0:0.4418	.	483;580;525;580	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	580;483	ENSP00000302269:L580Q;ENSP00000443242:L483Q	ENSP00000302269:L580Q	L	+	2	0	VAV1	6784926	0.000000	0.05858	0.711000	0.30485	0.520000	0.34377	-1.015000	0.03637	-0.118000	0.11851	-0.415000	0.06103	CTA	-	VAV1	-	NULL		0.537	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	0	0	0	54	54	122	0.00	0.00	T			6833926	+1	9	11	93	124	tier1	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	8.74	8.15	SNP	0.680	A	9	93
KCNQ2	3785	genome.wustl.edu	37	20	62055553	62055553	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr20:62055553G>T	ENST00000359125.2	-	11	1398	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E	KCNQ2_ENST00000360480.3_Missense_Mutation_p.D398E|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D398E|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D408E|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D408E|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D408E|KCNQ2_ENST00000354587.3_Missense_Mutation_p.D398E	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	408					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCGGCGGGGGGTCCTTCCTTC	0.647													ENSG00000075043																																					0													29.0	29.0	29.0					20																	62055553		2128	4192	6320	SO:0001583	missense	0			-	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1224C>A	20.37:g.62055553G>T	ENSP00000352035:p.Asp408Glu		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.D398E	ENST00000359125.2	37	c.1194	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.721570	0.00700	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221	D;D;D;D;D;D;D;D;D;D;D	0.99032	-5.05;-5.23;-5.26;-4.98;-5.21;-5.1;-5.09;-5.17;-4.99;-5.13;-5.35	4.5	0.331	0.15933	.	0.330064	0.27122	N	0.020834	D	0.93232	0.7844	N	0.08118	0	0.24838	N	0.992489	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	D	0.87550	0.2464	10	0.13108	T	0.6	.	4.3277	0.11048	0.1304:0.6112:0.1281:0.1302	.	408;398;408;408;408	B4DEP4;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;KCNQ2_HUMAN	E	408;408;408;398;408;408;398;398;398;398;398	ENSP00000349789:D408E;ENSP00000352035:D408E;ENSP00000359246:D408E;ENSP00000346601:D398E;ENSP00000352718:D408E;ENSP00000399612:D408E;ENSP00000353668:D398E;ENSP00000339611:D398E;ENSP00000359244:D398E;ENSP00000359242:D398E;ENSP00000359241:D398E	ENSP00000339611:D398E	D	-	3	2	KCNQ2	61525997	0.838000	0.29461	0.995000	0.50966	0.073000	0.16967	-0.134000	0.10436	0.350000	0.24002	-1.313000	0.01306	GAC	-	KCNQ2	-	NULL		0.647	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	0	0	0	47	47	54	0.00	0.00	G	NM_172109		62055553	-1	12	5	45	46	tier1	no_errors	ENST00000354587	ensembl	human	known	74_37	missense	21.05	9.80	SNP	0.994	T	12	45
RBFOX1	54715	genome.wustl.edu	37	16	7760642	7760642	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:7760642G>T	ENST00000550418.1	+	16	2077	c.1089G>T	c.(1087-1089)ttG>ttT	p.L363F	RBFOX1_ENST00000547338.1_Missense_Mutation_p.L363F|RBFOX1_ENST00000340209.4_Missense_Mutation_p.L368F|RBFOX1_ENST00000553186.1_Missense_Mutation_p.L336F|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L384F|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000355637.4_3'UTR	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	363					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGCACCTTTGACTGATGCCA	0.408													ENSG00000078328																									Ovarian(157;934 2567 15163 39509)												0													227.0	200.0	209.0					16																	7760642		2197	4300	6497	SO:0001583	missense	0			-	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1089G>T	16.37:g.7760642G>T	ENSP00000450031:p.Leu363Phe		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_R-bd_Fox-1,pfscan_RRM_dom	p.L384F	ENST00000550418.1	37	c.1152	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801196	0.31869	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547338;ENST00000311745;ENST00000352951;ENST00000340209	T;T;T;T;T	0.34472	1.36;1.65;1.36;1.73;1.36	5.95	5.95	0.96441	.	0.155125	0.44688	D	0.000434	T	0.22551	0.0544	N	0.14661	0.345	0.52501	D	0.999955	B;B;P;P	0.41265	0.003;0.008;0.662;0.744	B;B;B;B	0.39258	0.007;0.007;0.295;0.212	T	0.05289	-1.0894	10	0.10111	T	0.7	-6.9584	15.8271	0.78718	0.0:0.1351:0.8649:0.0	.	357;384;336;363	F8WAC5;Q9NWB1-2;Q9NWB1-3;Q9NWB1	.;.;.;RFOX1_HUMAN	F	363;336;363;384;357;368	ENSP00000450031:L363F;ENSP00000447753:L336F;ENSP00000447717:L363F;ENSP00000309117:L384F;ENSP00000344196:L368F	ENSP00000309117:L384F	L	+	3	2	RBFOX1	7700643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.540000	0.73861	2.831000	0.97527	0.609000	0.83330	TTG	-	RBFOX1	-	pirsf_R-bd_Fox-1		0.408	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	0	0	0	45	45	98	0.00	0.00	G	NM_145891		7760642	+1	11	10	56	95	tier1	no_errors	ENST00000311745	ensembl	human	known	74_37	missense	16.42	9.52	SNP	1.000	T	11	56
HBD	3045	genome.wustl.edu	37	11	5254013	5254013	+	IGR	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:5254013G>T	ENST00000380299.3	-	0	785				HBD_ENST00000292901.3_Missense_Mutation_p.P111T	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta						blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGCCTCAGGAACCTTCTTA	0.388													ENSG00000223609																																					0													30.0	29.0	29.0					11																	5254013		874	1989	2863	SO:0001628	intergenic_variant	0			-	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674		11.37:g.5254013G>T			Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	p.P111T	ENST00000380299.3	37	c.331	CCDS31376.1	11	.	.	.	.	.	.	.	.	.	.	g	3.662	-0.069237	0.07228	.	.	ENSG00000223609	ENST00000292901	D	0.91686	-2.89	4.99	-4.31	0.03698	.	.	.	.	.	D	0.87755	0.6257	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.80269	-0.1453	6	0.87932	D	0	.	3.6943	0.08358	0.3877:0.0:0.2172:0.395	.	.	.	.	T	111	ENSP00000292901:P111T	ENSP00000292901:P111T	P	-	1	0	HBD	5210589	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.050000	0.11904	-0.408000	0.07565	-0.854000	0.03029	CCT	-	HBD	-	NULL		0.388	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBD	HGNC	protein_coding	OTTHUMT00000142970.1	0	0	2	36	36	112	0.00	1.75	G	NM_000519		5254013	-1	10	16	58	98	tier1	no_errors	ENST00000292901	ensembl	human	putative	74_37	missense	14.71	14.04	SNP	0.000	T	10	58
FAT3	120114	genome.wustl.edu	37	11	92532352	92532352	+	Missense_Mutation	SNP	G	G	A	rs199620788		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:92532352G>A	ENST00000298047.6	+	9	6190	c.6173G>A	c.(6172-6174)cGt>cAt	p.R2058H	FAT3_ENST00000409404.2_Missense_Mutation_p.R2058H|FAT3_ENST00000525166.1_Missense_Mutation_p.R1908H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2058	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGCCAGCCGTGAGCTGGAC	0.483										TCGA Ovarian(4;0.039)			ENSG00000165323	G|||	1	0.000199681	0.0	0.0	5008	,	,		19857	0.0		0.0	False		,,,				2504	0.001																0								G	HIS/ARG	1,3943		0,1,1971	62.0	66.0	65.0		6173	5.0	1.0	11		65	1,8339		0,1,4169	yes	missense	FAT3	NM_001008781.2	29	0,2,6140	AA,AG,GG		0.012,0.0254,0.0163	probably-damaging	2058/4558	92532352	2,12282	1972	4170	6142	SO:0001583	missense	0			-	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6173G>A	11.37:g.92532352G>A	ENSP00000298047:p.Arg2058His		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R2058H	ENST00000298047.6	37	c.6173		11	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648873	0.67358	2.54E-4	1.2E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51325	0.71;0.71;0.71	5.9	4.97	0.65823	.	.	.	.	.	T	0.66327	0.2778	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.70256	-0.4922	9	0.72032	D	0.01	.	16.3101	0.82865	0.0:0.0:0.8667:0.1333	.	2058	Q8TDW7-3	.	H	2058;2058;1908	ENSP00000298047:R2058H;ENSP00000387040:R2058H;ENSP00000432586:R1908H	ENSP00000298047:R2058H	R	+	2	0	FAT3	92172000	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.673000	0.68109	1.459000	0.47892	0.655000	0.94253	CGT	rs199620788	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		0	0	0	18	18	113	0.00	0.00	G	NM_001008781		92532352	+1	8	10	31	102	tier1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	20.51	8.93	SNP	1.000	A	8	31
FHOD3	80206	genome.wustl.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46													ENSG00000134775																																					0																																										SO:0001589	frameshift_variant	0				AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.R461fs	ENST00000359247.4	37	c.1371_1372		18																																																																																				FHOD3	-	NULL		0.460	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	0	0	2	38	38	107	0.00	1.83	AG	XM_371114		34261460	+1	5	8	46	67	tier1	no_errors	ENST00000257209	ensembl	human	known	74_37	frame_shift_del	9.80	10.67	DEL	0.879:1.000	-	5	46
COX6A2	1339	genome.wustl.edu	37	16	31439619	31439619	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:31439619G>A	ENST00000287490.4	-	1	130	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W		NM_005205.3	NP_005196.1	Q02221	CX6A2_HUMAN	cytochrome c oxidase subunit VIa polypeptide 2	10					generation of precursor metabolites and energy (GO:0006091)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(2)|lung(1)	5						GCCAAGCCCCGGGTCAGGGGC	0.692													ENSG00000156885																																					0													16.0	17.0	17.0					16																	31439619		2190	4297	6487	SO:0001583	missense	0			-	U66875, M83308	CCDS10712.1	16p11.12	2011-07-04			ENSG00000156885	ENSG00000156885	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2279	protein-coding gene	gene with protein product		602009				1327966, 9177785	Standard	NM_005205		Approved		uc002ebx.2	Q02221	OTTHUMG00000132463	ENST00000287490.4:c.28C>T	16.37:g.31439619G>A	ENSP00000287490:p.Arg10Trp		O00761|Q6GTW6	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,pirsf_Cyt_c_oxidase_su6a	p.R10W	ENST00000287490.4	37	c.28	CCDS10712.1	16	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821094	0.71028	.	.	ENSG00000156885	ENST00000287490	.	.	.	4.49	-0.346	0.12620	.	0.361143	0.27004	N	0.021405	T	0.63414	0.2509	.	.	.	0.26538	N	0.974135	D	0.89917	1.0	D	0.87578	0.998	T	0.57963	-0.7720	8	0.87932	D	0	-10.7204	10.9807	0.47492	0.0:0.0:0.3429:0.6571	.	10	Q02221	CX6A2_HUMAN	W	10	.	ENSP00000287490:R10W	R	-	1	2	COX6A2	31347120	0.001000	0.12720	0.445000	0.26908	0.976000	0.68499	-0.614000	0.05604	0.181000	0.19994	0.563000	0.77884	CGG	-	COX6A2	-	pirsf_Cyt_c_oxidase_su6a		0.692	COX6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX6A2	HGNC	protein_coding	OTTHUMT00000255626.2	0	0	0	60	60	14	0.00	0.00	G	NM_005205		31439619	-1	6	0	64	7	tier1	no_errors	ENST00000287490	ensembl	human	known	74_37	missense	8.57	0.00	SNP	0.426	A	6	64
ST14	6768	genome.wustl.edu	37	11	130060353	130060353	+	Silent	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:130060353C>T	ENST00000278742.5	+	7	1057	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	213					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCGCAGACAGCTGCAGCTTTG	0.697													ENSG00000149418																																					0													29.0	35.0	33.0					11																	130060353		2189	4277	6466	SO:0001819	synonymous_variant	0			-	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.639C>T	11.37:g.130060353C>T			Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.S213	ENST00000278742.5	37	c.639	CCDS8487.1	11																																																																																			-	ST14	-	pirsf_Peptidase_S1A_matripase,superfamily_CUB_dom		0.697	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	0	0	0	69	69	6	0.00	0.00	C			130060353	+1	18	0	95	6	tier1	no_errors	ENST00000278742	ensembl	human	known	74_37	silent	15.93	0.00	SNP	1.000	T	18	95
PDXDC2P	283970	genome.wustl.edu	37	16	70011737	70011737	+	RNA	SNP	T	T	C	rs199849939	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:70011737T>C	ENST00000531894.1	-	0	2724				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										CAGGGCCCATTTGCTATTACA	0.438													ENSG00000226232	t|||	927	0.185104	0.0227	0.3228	5008	,	,		20508	0.0833		0.4046	False		,,,				2504	0.1861																0																																												0			-			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70011737T>C			A8K9Z5	R	SNP	-	NULL	ENST00000531894.1	37	NULL		16																																																																																			rs199849939	RP11-419C5.2	-	-		0.438	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000226232	Clone_based_vega_gene	processed_transcript	OTTHUMT00000395258.1	0	0	0	29	29	1	0.00	0.00	T			70011737	-1	7	0	14	0	tier1	no_errors	ENST00000525562	ensembl	human	known	74_37	rna	33.33	0.00	SNP	0.002	C	7	14
AC018630.1	0	genome.wustl.edu	37	12	11187132	11187133	+	In_Frame_Ins	INS	-	-	TTG	rs371394829		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:11187132_11187133insTTG	ENST00000601123.1	+	1	46_47	c.46_47insTTG	c.(46-48)tct>tTTGct	p.16_16S>FA	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron																							attattattttctaaacattca	0.277													ENSG00000268301																																					0																																										SO:0001652	inframe_insertion	0																															Exception_encountered	12.37:g.11187132_11187133insTTG	ENSP00000473087:p.Ser16delinsPheAla			In_Frame_Ins	INS	NULL	p.S16in_frame_insFA	ENST00000601123.1	37	c.46_47		12																																																																																				AC018630.1	-	NULL		0.277	AC018630.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268301	Clone_based_ensembl_gene	protein_coding		0	0	0	11	11	1	0.00	0.00	-			11187133	+1	8	0	11	0	tier1	no_errors	ENST00000601123	ensembl	human	novel	74_37	in_frame_ins	42.11	0.00	INS	0.012:0.013	TTG	8	11
TPRXL	348825	genome.wustl.edu	37	3	14105886	14105897	+	In_Frame_Del	DEL	CAGCAGCAGCCC	CAGCAGCAGCCC	-	rs111691316		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	CAGCAGCAGCCC	CAGCAGCAGCCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr3:14105886_14105897delCAGCAGCAGCCC	ENST00000424053.1	+	3	757_768	c.210_221delCAGCAGCAGCCC	c.(208-222)agcagcagcagcccc>agc	p.SSSP71del	TPRXL_ENST00000326972.8_In_Frame_Del_p.SSSP71del|TPRXL_ENST00000532753.1_Intron|TPRXL_ENST00000429201.1_In_Frame_Del_p.SSSP71del			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.									endometrium(1)	1						gcagccccagcagcagcagccccagcagcagc	0.67													ENSG00000180438																																					0																																										SO:0001651	inframe_deletion	0				AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	ENST00000424053.1:c.210_221delCAGCAGCAGCCC	3.37:g.14105886_14105897delCAGCAGCAGCCC	ENSP00000400448:p.Ser71_Pro74del		Q8NAM5	In_Frame_Del	DEL	NULL	p.PSSS74in_frame_del	ENST00000424053.1	37	c.210_221		3																																																																																				TPRXL	-	NULL		0.670	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	HGNC	protein_coding	OTTHUMT00000340436.1	0	0	0	2	2	2	0.00	0.00	CAGCAGCAGCCC	NR_002223		14105897	+1	0	0	0	0	tier1	no_errors	ENST00000326972	ensembl	human	known	74_37	in_frame_del	0.00	0.00	DEL	0.880:0.801:0.741:0.671:0.265:0.182:0.069:0.024:0.005:0.003:0.001:0.000	-	0	0
KRTAP10-11	386678	genome.wustl.edu	37	21	46067079	46067079	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr21:46067079C>A	ENST00000334670.8	+	1	749	c.704C>A	c.(703-705)tCc>tAc	p.S235Y	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	235	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						AGACCCTCCTCCTCTGTGTCC	0.652													ENSG00000243489																																					0													117.0	127.0	123.0					21																	46067079		2203	4300	6503	SO:0001583	missense	0			-	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.704C>A	21.37:g.46067079C>A	ENSP00000334197:p.Ser235Tyr		A2RRF9	Missense_Mutation	SNP	NULL	p.S235Y	ENST00000334670.8	37	c.704	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	c	17.31	3.356639	0.61293	.	.	ENSG00000243489;ENSG00000205439	ENST00000334670;ENST00000546091	T	0.01505	4.82	2.94	2.94	0.34122	.	.	.	.	.	T	0.06962	0.0177	L	0.56199	1.76	0.36195	D	0.850361	D	0.89917	1.0	D	0.74674	0.984	T	0.28554	-1.0040	9	0.87932	D	0	.	12.1689	0.54146	0.0:1.0:0.0:0.0	.	235	P60412	KR10B_HUMAN	Y	235;8	ENSP00000334197:S235Y	ENSP00000334197:S235Y	S	+	2	0	KRTAP12-3;KRTAP10-11	44891507	0.834000	0.29399	0.862000	0.33874	0.903000	0.53119	0.570000	0.23653	1.617000	0.50277	0.456000	0.33151	TCC	-	KRTAP10-11	-	NULL		0.652	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	HGNC	protein_coding	OTTHUMT00000128029.1	0	0	0	89	89	4	0.00	0.00	C	NM_198692		46067079	+1	31	2	82	3	tier1	no_errors	ENST00000334670	ensembl	human	known	74_37	missense	27.43	40.00	SNP	1.000	A	31	82
ZPBP	11055	genome.wustl.edu	37	7	50070806	50070806	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:50070806C>G	ENST00000046087.2	-	5	657	c.588G>C	c.(586-588)caG>caC	p.Q196H	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.Q195H	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	196					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGCTTAAAATCTGAAGAAGTT	0.353													ENSG00000042813																																					0													57.0	61.0	60.0					7																	50070806		2203	4299	6502	SO:0001583	missense	0			-	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.588G>C	7.37:g.50070806C>G	ENSP00000046087:p.Gln196His		A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	pfam_Sp38-bd,pfscan_Ig-like_dom	p.Q196H	ENST00000046087.2	37	c.588	CCDS5509.1	7	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083914	0.55861	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.54675	0.56;0.56	5.17	4.28	0.50868	.	0.100687	0.44097	D	0.000496	T	0.66297	0.2775	M	0.68317	2.08	0.36384	D	0.8621	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.971	T	0.72330	-0.4326	9	.	.	.	-9.5571	9.6886	0.40114	0.0:0.835:0.0:0.165	.	195;196	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	H	196;195	ENSP00000046087:Q196H;ENSP00000402071:Q195H	.	Q	-	3	2	ZPBP	50041352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.906000	0.28517	1.291000	0.44653	0.655000	0.94253	CAG	-	ZPBP	-	pfam_Sp38-bd		0.353	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	HGNC	protein_coding	OTTHUMT00000251374.1	0	0	0	30	30	78	0.00	0.00	C	NM_007009		50070806	-1	6	2	34	54	tier1	no_errors	ENST00000046087	ensembl	human	known	74_37	missense	15.00	3.57	SNP	1.000	G	6	34
DSCAM	1826	genome.wustl.edu	37	21	41385110	41385110	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr21:41385110G>T	ENST00000400454.1	-	33	6367	c.5890C>A	c.(5890-5892)Cag>Aag	p.Q1964K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1964				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCCCCGGCTGCCACGACTGT	0.652													ENSG00000171587																									Melanoma(134;970 1778 1785 21664 32388)												0													25.0	28.0	27.0					21																	41385110		1935	4138	6073	SO:0001583	missense	0			-	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5890C>A	21.37:g.41385110G>T	ENSP00000383303:p.Gln1964Lys		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q1964K	ENST00000400454.1	37	c.5890	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	.	16.67	3.186549	0.57909	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59638	0.25;0.26	5.39	5.39	0.77823	.	0.125645	0.56097	D	0.000029	T	0.52517	0.1739	L	0.44542	1.39	0.50813	D	0.999897	B	0.29037	0.231	B	0.24541	0.054	T	0.51180	-0.8738	10	0.46703	T	0.11	.	19.17	0.93574	0.0:0.0:1.0:0.0	.	1964	O60469	DSCAM_HUMAN	K	1964;1698	ENSP00000383303:Q1964K;ENSP00000385342:Q1698K	ENSP00000383303:Q1964K	Q	-	1	0	DSCAM	40306980	1.000000	0.71417	0.997000	0.53966	0.796000	0.44982	9.183000	0.94887	2.521000	0.84997	0.557000	0.71058	CAG	-	DSCAM	-	NULL		0.652	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	0	0	0	29	29	52	0.00	0.00	G	NM_001389		41385110	-1	17	2	40	32	tier1	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	29.82	5.88	SNP	1.000	T	17	40
